Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001510	HP:0001510	Growth delay	0	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0001510	Growth delay	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0001510	Growth delay	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0001510	Growth delay	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0001510	Growth delay	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0001510	Growth delay	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0001510	Growth delay	0	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0001510	Growth delay	0	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0001510	Growth delay	0	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0001510	Growth delay	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0001510	Growth delay	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0001510	Growth delay	0	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0001510	Growth delay	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0001510	Growth delay	0	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0001510	Growth delay	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0001510	Growth delay	0	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0001510	Growth delay	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0001510	Growth delay	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0001510	Growth delay	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0001510	Growth delay	0	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0001510	Growth delay	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0001510	Growth delay	0	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0001510	Growth delay	0	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0001510	Growth delay	0	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0001510	Growth delay	0	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0001510	Growth delay	0	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0001510	Growth delay	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0001510	Growth delay	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0001510	Growth delay	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0001510	Growth delay	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0001510	Growth delay	0	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0001510	Growth delay	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0001510	Growth delay	0	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0001510	Growth delay	0	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0001510	Growth delay	0	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0001510	Growth delay	0	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0001510	Growth delay	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0001510	Growth delay	0	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0001510	Growth delay	0	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0001510	Growth delay	0	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0001510	Growth delay	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0001510	Growth delay	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0001510	Growth delay	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0001510	Growth delay	0	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0001510	Growth delay	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0001510	Growth delay	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0001510	Growth delay	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0001510	Growth delay	0	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0001510	Growth delay	0	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0001510	Growth delay	0	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0001510	Growth delay	0	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0001510	Growth delay	0	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0001510	Growth delay	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0001510	Growth delay	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0001510	Growth delay	0	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0001510	Growth delay	0	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0001510	Growth delay	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0001510	Growth delay	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0001510	Growth delay	0	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0001510	Growth delay	0	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0001510	Growth delay	0	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0001510	Growth delay	0	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0001510	Growth delay	0	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0001510	Growth delay	0	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0001510	Growth delay	0	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0001510	Growth delay	0	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0001510	Growth delay	0	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0001510	Growth delay	0	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0001510	Growth delay	0	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0001510	Growth delay	0	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0001510	Growth delay	0	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0001510	Growth delay	0	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0001510	Growth delay	0	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0001510	Growth delay	0	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0001510	Growth delay	0	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0001510	Growth delay	0	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0001510	Growth delay	0	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0001510	Growth delay	0	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0001510	Growth delay	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0001510	Growth delay	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0001510	Growth delay	0	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0001510	Growth delay	0	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0001510	Growth delay	0	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0001510	Growth delay	0	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0001510	Growth delay	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0001510	Growth delay	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0001510	Growth delay	0	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0001510	Growth delay	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0001510	Growth delay	0	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0001510	Growth delay	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0001510	Growth delay	0	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0001510	Growth delay	0	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0001510	Growth delay	0	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0001510	Growth delay	0	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0001510	Growth delay	0	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0001510	Growth delay	0	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0001510	Growth delay	0	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0001510	Growth delay	0	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0001510	Growth delay	0	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0001510	Growth delay	0	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0001510	Growth delay	0	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0001510	Growth delay	0	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0001510	Growth delay	0	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0001510	Growth delay	0	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0001510	Growth delay	0	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0001510	Growth delay	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0001510	Growth delay	0	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0001510	Growth delay	0	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0001510	Growth delay	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0001510	Growth delay	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0001510	Growth delay	0	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0001510	Growth delay	0	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0001510	Growth delay	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0001510	Growth delay	0	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0001510	Growth delay	0	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0001510	Growth delay	0	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0001510	Growth delay	0	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0001510	Growth delay	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0001510	Growth delay	0	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0001510	Growth delay	0	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0001510	Growth delay	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0001510	Growth delay	0	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0001510	Growth delay	0	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0001510	Growth delay	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0001510	Growth delay	0	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0001510	Growth delay	0	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0001510	Growth delay	0	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0001510	Growth delay	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0001510	Growth delay	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0001510	Growth delay	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0001510	Growth delay	0	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0001510	Growth delay	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0001510	Growth delay	0	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0001510	Growth delay	0	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0001510	Growth delay	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0001510	Growth delay	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0001510	Growth delay	0	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0001510	Growth delay	0	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0001510	Growth delay	0	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0001510	Growth delay	0	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0001510	Growth delay	0	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0001510	Growth delay	0	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0001510	Growth delay	0	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0001510	Growth delay	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0001510	Growth delay	0	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0001510	Growth delay	0	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0001510	Growth delay	0	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0001510	Growth delay	0	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0001510	Growth delay	0	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0001510	Growth delay	0	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0001510	Growth delay	0	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0001510	Growth delay	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0001510	Growth delay	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0001510	Growth delay	0	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0001510	Growth delay	0	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0001510	Growth delay	0	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0001510	Growth delay	0	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0001510	Growth delay	0	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0001510	Growth delay	0	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0001510	Growth delay	0	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0001510	Growth delay	0	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0001510	Growth delay	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0001510	Growth delay	0	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0001510	Growth delay	0	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0001510	Growth delay	0	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0001510	Growth delay	0	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0001510	Growth delay	0	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0001510	Growth delay	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0001510	Growth delay	0	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0001510	Growth delay	0	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0000823	Delayed puberty	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0004322	Short stature	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008897	Postnatal growth retardation	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0000823	Delayed puberty	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0004322	Short stature	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008897	Postnatal growth retardation	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0000823	Delayed puberty	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0004322	Short stature	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008897	Postnatal growth retardation	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0000823	Delayed puberty	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0004322	Short stature	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008897	Postnatal growth retardation	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0000823	Delayed puberty	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0004322	Short stature	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008897	Postnatal growth retardation	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0000823	Delayed puberty	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0004322	Short stature	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0001511	Intrauterine growth retardation	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008897	Postnatal growth retardation	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0000823	Delayed puberty	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0004322	Short stature	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0001511	Intrauterine growth retardation	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008897	Postnatal growth retardation	1	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0000823	Delayed puberty	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0004322	Short stature	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008897	Postnatal growth retardation	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0000823	Delayed puberty	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0004322	Short stature	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008897	Postnatal growth retardation	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0000823	Delayed puberty	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0004322	Short stature	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008897	Postnatal growth retardation	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0000823	Delayed puberty	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0004322	Short stature	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0001511	Intrauterine growth retardation	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008897	Postnatal growth retardation	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0000823	Delayed puberty	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0004322	Short stature	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008897	Postnatal growth retardation	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0000823	Delayed puberty	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0004322	Short stature	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008897	Postnatal growth retardation	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0000823	Delayed puberty	1	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0004322	Short stature	1	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0001511	Intrauterine growth retardation	1	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008897	Postnatal growth retardation	1	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0000823	Delayed puberty	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0004322	Short stature	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0001511	Intrauterine growth retardation	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008897	Postnatal growth retardation	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0000823	Delayed puberty	1	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0004322	Short stature	1	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008897	Postnatal growth retardation	1	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0000823	Delayed puberty	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0004322	Short stature	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008897	Postnatal growth retardation	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0000823	Delayed puberty	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0004322	Short stature	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008897	Postnatal growth retardation	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0000823	Delayed puberty	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0004322	Short stature	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008897	Postnatal growth retardation	1	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0000823	Delayed puberty	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0004322	Short stature	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008897	Postnatal growth retardation	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0000823	Delayed puberty	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0004322	Short stature	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008897	Postnatal growth retardation	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0000823	Delayed puberty	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0004322	Short stature	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008897	Postnatal growth retardation	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0000823	Delayed puberty	1	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0004322	Short stature	1	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0001511	Intrauterine growth retardation	1	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008897	Postnatal growth retardation	1	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0000823	Delayed puberty	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0004322	Short stature	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0001511	Intrauterine growth retardation	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008897	Postnatal growth retardation	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0000823	Delayed puberty	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0004322	Short stature	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0001511	Intrauterine growth retardation	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008897	Postnatal growth retardation	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0000823	Delayed puberty	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0004322	Short stature	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008897	Postnatal growth retardation	1	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0000823	Delayed puberty	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0004322	Short stature	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0000823	Delayed puberty	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0004322	Short stature	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0000823	Delayed puberty	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0004322	Short stature	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0000823	Delayed puberty	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0004322	Short stature	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0000823	Delayed puberty	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0004322	Short stature	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0000823	Delayed puberty	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0004322	Short stature	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0001511	Intrauterine growth retardation	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008897	Postnatal growth retardation	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0000823	Delayed puberty	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0004322	Short stature	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008897	Postnatal growth retardation	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0000823	Delayed puberty	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0004322	Short stature	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008897	Postnatal growth retardation	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0000823	Delayed puberty	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0004322	Short stature	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008897	Postnatal growth retardation	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0000823	Delayed puberty	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0004322	Short stature	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008897	Postnatal growth retardation	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0000823	Delayed puberty	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0004322	Short stature	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008897	Postnatal growth retardation	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0000823	Delayed puberty	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0004322	Short stature	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008897	Postnatal growth retardation	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0000823	Delayed puberty	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0004322	Short stature	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008897	Postnatal growth retardation	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0000823	Delayed puberty	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0004322	Short stature	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0001511	Intrauterine growth retardation	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008897	Postnatal growth retardation	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0000823	Delayed puberty	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0004322	Short stature	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0001511	Intrauterine growth retardation	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008897	Postnatal growth retardation	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0000823	Delayed puberty	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0004322	Short stature	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008897	Postnatal growth retardation	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0000823	Delayed puberty	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0004322	Short stature	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008897	Postnatal growth retardation	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0000823	Delayed puberty	1	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0004322	Short stature	1	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008897	Postnatal growth retardation	1	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0000823	Delayed puberty	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0004322	Short stature	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008897	Postnatal growth retardation	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0000823	Delayed puberty	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0004322	Short stature	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0001511	Intrauterine growth retardation	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008897	Postnatal growth retardation	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0000823	Delayed puberty	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0004322	Short stature	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0001511	Intrauterine growth retardation	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008897	Postnatal growth retardation	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0000823	Delayed puberty	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0004322	Short stature	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008897	Postnatal growth retardation	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0000823	Delayed puberty	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0004322	Short stature	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008897	Postnatal growth retardation	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0000823	Delayed puberty	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0004322	Short stature	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008897	Postnatal growth retardation	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0000823	Delayed puberty	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0004322	Short stature	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008897	Postnatal growth retardation	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0000823	Delayed puberty	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0004322	Short stature	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008897	Postnatal growth retardation	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0000823	Delayed puberty	1	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0004322	Short stature	1	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008897	Postnatal growth retardation	1	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0000823	Delayed puberty	1	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0004322	Short stature	1	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008897	Postnatal growth retardation	1	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0000823	Delayed puberty	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0004322	Short stature	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008897	Postnatal growth retardation	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0000823	Delayed puberty	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0004322	Short stature	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0001511	Intrauterine growth retardation	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008897	Postnatal growth retardation	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0000823	Delayed puberty	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0004322	Short stature	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0001511	Intrauterine growth retardation	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008897	Postnatal growth retardation	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0000823	Delayed puberty	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0004322	Short stature	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0001511	Intrauterine growth retardation	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008897	Postnatal growth retardation	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0000823	Delayed puberty	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0004322	Short stature	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0001511	Intrauterine growth retardation	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008897	Postnatal growth retardation	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0000823	Delayed puberty	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0004322	Short stature	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0001511	Intrauterine growth retardation	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008897	Postnatal growth retardation	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0000823	Delayed puberty	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0004322	Short stature	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0001511	Intrauterine growth retardation	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008897	Postnatal growth retardation	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0000823	Delayed puberty	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0004322	Short stature	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008897	Postnatal growth retardation	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0000823	Delayed puberty	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0004322	Short stature	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008897	Postnatal growth retardation	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0000823	Delayed puberty	1	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0004322	Short stature	1	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008897	Postnatal growth retardation	1	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0000823	Delayed puberty	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0004322	Short stature	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008897	Postnatal growth retardation	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0000823	Delayed puberty	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0004322	Short stature	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008897	Postnatal growth retardation	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0000823	Delayed puberty	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0004322	Short stature	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008897	Postnatal growth retardation	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0000823	Delayed puberty	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0004322	Short stature	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0001511	Intrauterine growth retardation	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008897	Postnatal growth retardation	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0000823	Delayed puberty	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0004322	Short stature	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0001511	Intrauterine growth retardation	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008897	Postnatal growth retardation	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0000823	Delayed puberty	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0004322	Short stature	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008897	Postnatal growth retardation	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0000823	Delayed puberty	1	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0004322	Short stature	1	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008897	Postnatal growth retardation	1	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0000823	Delayed puberty	1	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0004322	Short stature	1	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008897	Postnatal growth retardation	1	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0000823	Delayed puberty	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0004322	Short stature	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008897	Postnatal growth retardation	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0000823	Delayed puberty	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0004322	Short stature	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008897	Postnatal growth retardation	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0000823	Delayed puberty	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0004322	Short stature	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008897	Postnatal growth retardation	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0000823	Delayed puberty	1	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0004322	Short stature	1	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008897	Postnatal growth retardation	1	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0000823	Delayed puberty	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0004322	Short stature	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008897	Postnatal growth retardation	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0000823	Delayed puberty	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0004322	Short stature	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008897	Postnatal growth retardation	1	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0000823	Delayed puberty	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0004322	Short stature	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008897	Postnatal growth retardation	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0000823	Delayed puberty	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0004322	Short stature	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008897	Postnatal growth retardation	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0000823	Delayed puberty	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0004322	Short stature	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008897	Postnatal growth retardation	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0000823	Delayed puberty	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0004322	Short stature	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008897	Postnatal growth retardation	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0000823	Delayed puberty	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0004322	Short stature	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008897	Postnatal growth retardation	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0000823	Delayed puberty	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0004322	Short stature	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008897	Postnatal growth retardation	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0000823	Delayed puberty	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0004322	Short stature	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008897	Postnatal growth retardation	1	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0000823	Delayed puberty	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0004322	Short stature	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008897	Postnatal growth retardation	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0000823	Delayed puberty	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0004322	Short stature	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008897	Postnatal growth retardation	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0000823	Delayed puberty	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0004322	Short stature	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008897	Postnatal growth retardation	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0000823	Delayed puberty	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0004322	Short stature	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008897	Postnatal growth retardation	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0000823	Delayed puberty	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0004322	Short stature	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008897	Postnatal growth retardation	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0000823	Delayed puberty	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0004322	Short stature	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008897	Postnatal growth retardation	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0000823	Delayed puberty	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0004322	Short stature	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008897	Postnatal growth retardation	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0000823	Delayed puberty	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0004322	Short stature	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008897	Postnatal growth retardation	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0000823	Delayed puberty	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0004322	Short stature	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008897	Postnatal growth retardation	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0000823	Delayed puberty	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0004322	Short stature	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008897	Postnatal growth retardation	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0000823	Delayed puberty	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0004322	Short stature	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008897	Postnatal growth retardation	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0000823	Delayed puberty	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0004322	Short stature	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008897	Postnatal growth retardation	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0000823	Delayed puberty	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0004322	Short stature	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008897	Postnatal growth retardation	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0000823	Delayed puberty	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0004322	Short stature	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008897	Postnatal growth retardation	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0000823	Delayed puberty	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0004322	Short stature	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008897	Postnatal growth retardation	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0000823	Delayed puberty	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0004322	Short stature	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008897	Postnatal growth retardation	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0000823	Delayed puberty	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0004322	Short stature	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008897	Postnatal growth retardation	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0000823	Delayed puberty	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0004322	Short stature	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008897	Postnatal growth retardation	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0000823	Delayed puberty	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0004322	Short stature	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008897	Postnatal growth retardation	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0000823	Delayed puberty	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0004322	Short stature	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0001511	Intrauterine growth retardation	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008897	Postnatal growth retardation	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0000823	Delayed puberty	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0004322	Short stature	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008897	Postnatal growth retardation	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0000823	Delayed puberty	1	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0004322	Short stature	1	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008897	Postnatal growth retardation	1	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0000823	Delayed puberty	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0004322	Short stature	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008897	Postnatal growth retardation	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0000823	Delayed puberty	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0004322	Short stature	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008897	Postnatal growth retardation	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0000823	Delayed puberty	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0004322	Short stature	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008897	Postnatal growth retardation	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0000823	Delayed puberty	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0004322	Short stature	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008897	Postnatal growth retardation	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0000823	Delayed puberty	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0004322	Short stature	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008897	Postnatal growth retardation	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0000823	Delayed puberty	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0004322	Short stature	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008897	Postnatal growth retardation	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0000823	Delayed puberty	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0004322	Short stature	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008897	Postnatal growth retardation	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0000823	Delayed puberty	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0004322	Short stature	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008897	Postnatal growth retardation	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0000823	Delayed puberty	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0004322	Short stature	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008897	Postnatal growth retardation	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0000823	Delayed puberty	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0004322	Short stature	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008897	Postnatal growth retardation	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0000823	Delayed puberty	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0004322	Short stature	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008897	Postnatal growth retardation	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0000823	Delayed puberty	1	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0004322	Short stature	1	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008897	Postnatal growth retardation	1	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0000823	Delayed puberty	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0004322	Short stature	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008897	Postnatal growth retardation	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0000823	Delayed puberty	1	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0004322	Short stature	1	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008897	Postnatal growth retardation	1	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0000823	Delayed puberty	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0004322	Short stature	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008897	Postnatal growth retardation	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0000823	Delayed puberty	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0004322	Short stature	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008897	Postnatal growth retardation	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0000823	Delayed puberty	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0004322	Short stature	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008897	Postnatal growth retardation	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0000823	Delayed puberty	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0004322	Short stature	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008897	Postnatal growth retardation	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0000823	Delayed puberty	1	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0004322	Short stature	1	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008897	Postnatal growth retardation	1	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0000823	Delayed puberty	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0004322	Short stature	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008897	Postnatal growth retardation	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0000823	Delayed puberty	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0004322	Short stature	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008897	Postnatal growth retardation	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0000823	Delayed puberty	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0004322	Short stature	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008897	Postnatal growth retardation	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0000823	Delayed puberty	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0004322	Short stature	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008897	Postnatal growth retardation	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0000823	Delayed puberty	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0004322	Short stature	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008897	Postnatal growth retardation	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0000823	Delayed puberty	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0004322	Short stature	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008897	Postnatal growth retardation	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0000823	Delayed puberty	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0004322	Short stature	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008897	Postnatal growth retardation	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0000823	Delayed puberty	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0004322	Short stature	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008897	Postnatal growth retardation	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0000823	Delayed puberty	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0004322	Short stature	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0000823	Delayed puberty	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0004322	Short stature	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0000823	Delayed puberty	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0004322	Short stature	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0000823	Delayed puberty	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0004322	Short stature	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0000823	Delayed puberty	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0004322	Short stature	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0000823	Delayed puberty	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0004322	Short stature	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0000823	Delayed puberty	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0004322	Short stature	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0000823	Delayed puberty	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0004322	Short stature	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0000823	Delayed puberty	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0004322	Short stature	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008897	Postnatal growth retardation	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0000823	Delayed puberty	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0004322	Short stature	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008897	Postnatal growth retardation	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0000823	Delayed puberty	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0004322	Short stature	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008897	Postnatal growth retardation	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0000823	Delayed puberty	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0004322	Short stature	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008897	Postnatal growth retardation	1	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0000823	Delayed puberty	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0004322	Short stature	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008897	Postnatal growth retardation	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0000823	Delayed puberty	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0004322	Short stature	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008897	Postnatal growth retardation	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0000823	Delayed puberty	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0004322	Short stature	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008897	Postnatal growth retardation	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0000823	Delayed puberty	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0004322	Short stature	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008897	Postnatal growth retardation	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0000823	Delayed puberty	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0004322	Short stature	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008897	Postnatal growth retardation	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0000823	Delayed puberty	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0004322	Short stature	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008897	Postnatal growth retardation	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0000823	Delayed puberty	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0004322	Short stature	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008897	Postnatal growth retardation	1	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0000823	Delayed puberty	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0004322	Short stature	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0001511	Intrauterine growth retardation	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008897	Postnatal growth retardation	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0000823	Delayed puberty	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0004322	Short stature	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008897	Postnatal growth retardation	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0000823	Delayed puberty	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0004322	Short stature	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008897	Postnatal growth retardation	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0000823	Delayed puberty	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0004322	Short stature	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008897	Postnatal growth retardation	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0000823	Delayed puberty	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0004322	Short stature	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008897	Postnatal growth retardation	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0000823	Delayed puberty	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0004322	Short stature	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008897	Postnatal growth retardation	1	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0000823	Delayed puberty	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0004322	Short stature	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008897	Postnatal growth retardation	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0000823	Delayed puberty	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0004322	Short stature	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008897	Postnatal growth retardation	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0000823	Delayed puberty	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0004322	Short stature	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008897	Postnatal growth retardation	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0000823	Delayed puberty	1	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0004322	Short stature	1	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0001511	Intrauterine growth retardation	1	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008897	Postnatal growth retardation	1	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0000823	Delayed puberty	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0004322	Short stature	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0001511	Intrauterine growth retardation	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008897	Postnatal growth retardation	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0000823	Delayed puberty	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0004322	Short stature	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0001511	Intrauterine growth retardation	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008897	Postnatal growth retardation	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0000823	Delayed puberty	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0004322	Short stature	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0001511	Intrauterine growth retardation	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008897	Postnatal growth retardation	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0000823	Delayed puberty	1	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0004322	Short stature	1	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0001511	Intrauterine growth retardation	1	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008897	Postnatal growth retardation	1	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0000823	Delayed puberty	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0004322	Short stature	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0001511	Intrauterine growth retardation	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008897	Postnatal growth retardation	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0000823	Delayed puberty	1	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0004322	Short stature	1	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0001511	Intrauterine growth retardation	1	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008897	Postnatal growth retardation	1	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0000823	Delayed puberty	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0004322	Short stature	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0001511	Intrauterine growth retardation	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008897	Postnatal growth retardation	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0000823	Delayed puberty	1	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0004322	Short stature	1	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0001511	Intrauterine growth retardation	1	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008897	Postnatal growth retardation	1	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0000823	Delayed puberty	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0004322	Short stature	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0001511	Intrauterine growth retardation	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008897	Postnatal growth retardation	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0000823	Delayed puberty	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0004322	Short stature	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0001511	Intrauterine growth retardation	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008897	Postnatal growth retardation	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0000823	Delayed puberty	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0004322	Short stature	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008897	Postnatal growth retardation	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0025453	Delayed adrenarche	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0012569	Delayed menarche	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0025515	Delayed thelarche	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008929	Asymmetric short stature	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003498	Disproportionate short stature	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0000839	Pituitary dwarfism	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003508	Proportionate short stature	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0025453	Delayed adrenarche	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0012569	Delayed menarche	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0025515	Delayed thelarche	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008929	Asymmetric short stature	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003498	Disproportionate short stature	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0000839	Pituitary dwarfism	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003508	Proportionate short stature	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0025453	Delayed adrenarche	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0012569	Delayed menarche	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0025515	Delayed thelarche	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008929	Asymmetric short stature	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003498	Disproportionate short stature	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0000839	Pituitary dwarfism	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003508	Proportionate short stature	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0025453	Delayed adrenarche	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0012569	Delayed menarche	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0025515	Delayed thelarche	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008929	Asymmetric short stature	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003498	Disproportionate short stature	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0000839	Pituitary dwarfism	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003508	Proportionate short stature	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0025453	Delayed adrenarche	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0012569	Delayed menarche	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0025515	Delayed thelarche	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008929	Asymmetric short stature	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003498	Disproportionate short stature	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0000839	Pituitary dwarfism	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003508	Proportionate short stature	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0025453	Delayed adrenarche	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0012569	Delayed menarche	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0025515	Delayed thelarche	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008929	Asymmetric short stature	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003498	Disproportionate short stature	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0000839	Pituitary dwarfism	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003508	Proportionate short stature	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0025453	Delayed adrenarche	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0012569	Delayed menarche	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0025515	Delayed thelarche	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008929	Asymmetric short stature	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003498	Disproportionate short stature	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0000839	Pituitary dwarfism	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003508	Proportionate short stature	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0025453	Delayed adrenarche	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0012569	Delayed menarche	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0025515	Delayed thelarche	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008929	Asymmetric short stature	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003498	Disproportionate short stature	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0000839	Pituitary dwarfism	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003508	Proportionate short stature	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0025453	Delayed adrenarche	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0012569	Delayed menarche	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0025515	Delayed thelarche	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008929	Asymmetric short stature	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003498	Disproportionate short stature	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0000839	Pituitary dwarfism	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003508	Proportionate short stature	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0025453	Delayed adrenarche	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0012569	Delayed menarche	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0025515	Delayed thelarche	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008929	Asymmetric short stature	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003498	Disproportionate short stature	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0000839	Pituitary dwarfism	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003508	Proportionate short stature	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0025453	Delayed adrenarche	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0012569	Delayed menarche	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0025515	Delayed thelarche	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008929	Asymmetric short stature	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003498	Disproportionate short stature	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0000839	Pituitary dwarfism	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003508	Proportionate short stature	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0025453	Delayed adrenarche	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0012569	Delayed menarche	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0025515	Delayed thelarche	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008929	Asymmetric short stature	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003498	Disproportionate short stature	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0000839	Pituitary dwarfism	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003508	Proportionate short stature	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0025453	Delayed adrenarche	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0012569	Delayed menarche	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0025515	Delayed thelarche	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008929	Asymmetric short stature	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003498	Disproportionate short stature	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0000839	Pituitary dwarfism	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003508	Proportionate short stature	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0025453	Delayed adrenarche	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0012569	Delayed menarche	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0025515	Delayed thelarche	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008929	Asymmetric short stature	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003498	Disproportionate short stature	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0000839	Pituitary dwarfism	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003508	Proportionate short stature	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0025453	Delayed adrenarche	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0012569	Delayed menarche	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0025515	Delayed thelarche	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008929	Asymmetric short stature	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003498	Disproportionate short stature	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0000839	Pituitary dwarfism	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003508	Proportionate short stature	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0025453	Delayed adrenarche	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0012569	Delayed menarche	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0025515	Delayed thelarche	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008929	Asymmetric short stature	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003498	Disproportionate short stature	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0000839	Pituitary dwarfism	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003508	Proportionate short stature	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0025453	Delayed adrenarche	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0012569	Delayed menarche	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0025515	Delayed thelarche	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008929	Asymmetric short stature	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003498	Disproportionate short stature	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0000839	Pituitary dwarfism	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003508	Proportionate short stature	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0025453	Delayed adrenarche	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0012569	Delayed menarche	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0025515	Delayed thelarche	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008929	Asymmetric short stature	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003498	Disproportionate short stature	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0000839	Pituitary dwarfism	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003508	Proportionate short stature	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0025453	Delayed adrenarche	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0012569	Delayed menarche	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0025515	Delayed thelarche	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008929	Asymmetric short stature	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003498	Disproportionate short stature	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0000839	Pituitary dwarfism	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003508	Proportionate short stature	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0025453	Delayed adrenarche	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0012569	Delayed menarche	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0025515	Delayed thelarche	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008929	Asymmetric short stature	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003498	Disproportionate short stature	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0000839	Pituitary dwarfism	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003508	Proportionate short stature	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0025453	Delayed adrenarche	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0012569	Delayed menarche	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0025515	Delayed thelarche	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008929	Asymmetric short stature	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003498	Disproportionate short stature	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0000839	Pituitary dwarfism	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003508	Proportionate short stature	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0025453	Delayed adrenarche	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0012569	Delayed menarche	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0025515	Delayed thelarche	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008929	Asymmetric short stature	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003498	Disproportionate short stature	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0000839	Pituitary dwarfism	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003508	Proportionate short stature	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0025453	Delayed adrenarche	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0012569	Delayed menarche	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0025515	Delayed thelarche	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008929	Asymmetric short stature	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003498	Disproportionate short stature	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0000839	Pituitary dwarfism	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003508	Proportionate short stature	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0025453	Delayed adrenarche	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0012569	Delayed menarche	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0025515	Delayed thelarche	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008929	Asymmetric short stature	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003498	Disproportionate short stature	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0000839	Pituitary dwarfism	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003508	Proportionate short stature	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0025453	Delayed adrenarche	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0012569	Delayed menarche	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0025515	Delayed thelarche	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008929	Asymmetric short stature	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003498	Disproportionate short stature	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0000839	Pituitary dwarfism	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003508	Proportionate short stature	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0025453	Delayed adrenarche	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0012569	Delayed menarche	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0025515	Delayed thelarche	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008929	Asymmetric short stature	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003498	Disproportionate short stature	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0000839	Pituitary dwarfism	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003508	Proportionate short stature	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0025453	Delayed adrenarche	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0012569	Delayed menarche	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0025515	Delayed thelarche	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008929	Asymmetric short stature	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003498	Disproportionate short stature	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003508	Proportionate short stature	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0025453	Delayed adrenarche	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0012569	Delayed menarche	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0025515	Delayed thelarche	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008929	Asymmetric short stature	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003498	Disproportionate short stature	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003508	Proportionate short stature	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0025453	Delayed adrenarche	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0012569	Delayed menarche	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0025515	Delayed thelarche	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008929	Asymmetric short stature	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003498	Disproportionate short stature	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003508	Proportionate short stature	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0025453	Delayed adrenarche	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0012569	Delayed menarche	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0025515	Delayed thelarche	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008929	Asymmetric short stature	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003498	Disproportionate short stature	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003508	Proportionate short stature	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0025453	Delayed adrenarche	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0012569	Delayed menarche	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0025515	Delayed thelarche	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008929	Asymmetric short stature	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003498	Disproportionate short stature	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003508	Proportionate short stature	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0025453	Delayed adrenarche	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0012569	Delayed menarche	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0025515	Delayed thelarche	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008929	Asymmetric short stature	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003498	Disproportionate short stature	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0000839	Pituitary dwarfism	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003508	Proportionate short stature	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0025453	Delayed adrenarche	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0012569	Delayed menarche	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0025515	Delayed thelarche	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008929	Asymmetric short stature	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003498	Disproportionate short stature	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0000839	Pituitary dwarfism	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003508	Proportionate short stature	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0025453	Delayed adrenarche	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0012569	Delayed menarche	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0025515	Delayed thelarche	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008929	Asymmetric short stature	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003498	Disproportionate short stature	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0000839	Pituitary dwarfism	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003508	Proportionate short stature	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0025453	Delayed adrenarche	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0012569	Delayed menarche	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0025515	Delayed thelarche	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008929	Asymmetric short stature	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003498	Disproportionate short stature	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0000839	Pituitary dwarfism	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003508	Proportionate short stature	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0025453	Delayed adrenarche	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0012569	Delayed menarche	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0025515	Delayed thelarche	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008929	Asymmetric short stature	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003498	Disproportionate short stature	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0000839	Pituitary dwarfism	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003508	Proportionate short stature	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0025453	Delayed adrenarche	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0012569	Delayed menarche	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0025515	Delayed thelarche	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008929	Asymmetric short stature	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003498	Disproportionate short stature	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0000839	Pituitary dwarfism	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003508	Proportionate short stature	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0025453	Delayed adrenarche	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0012569	Delayed menarche	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0025515	Delayed thelarche	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008929	Asymmetric short stature	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003498	Disproportionate short stature	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0000839	Pituitary dwarfism	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003508	Proportionate short stature	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0025453	Delayed adrenarche	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0012569	Delayed menarche	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0025515	Delayed thelarche	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008929	Asymmetric short stature	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003498	Disproportionate short stature	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0000839	Pituitary dwarfism	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003508	Proportionate short stature	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0025453	Delayed adrenarche	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0012569	Delayed menarche	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0025515	Delayed thelarche	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008929	Asymmetric short stature	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003498	Disproportionate short stature	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0000839	Pituitary dwarfism	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003508	Proportionate short stature	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0025453	Delayed adrenarche	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0012569	Delayed menarche	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0025515	Delayed thelarche	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008929	Asymmetric short stature	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003498	Disproportionate short stature	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0000839	Pituitary dwarfism	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003508	Proportionate short stature	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0025453	Delayed adrenarche	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0012569	Delayed menarche	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0025515	Delayed thelarche	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008929	Asymmetric short stature	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003498	Disproportionate short stature	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0000839	Pituitary dwarfism	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003508	Proportionate short stature	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0025453	Delayed adrenarche	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0012569	Delayed menarche	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0025515	Delayed thelarche	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008929	Asymmetric short stature	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003498	Disproportionate short stature	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0000839	Pituitary dwarfism	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003508	Proportionate short stature	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0025453	Delayed adrenarche	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0012569	Delayed menarche	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0025515	Delayed thelarche	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008929	Asymmetric short stature	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003498	Disproportionate short stature	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0000839	Pituitary dwarfism	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003508	Proportionate short stature	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0025453	Delayed adrenarche	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0012569	Delayed menarche	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0025515	Delayed thelarche	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008929	Asymmetric short stature	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003498	Disproportionate short stature	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0000839	Pituitary dwarfism	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003508	Proportionate short stature	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0025453	Delayed adrenarche	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0012569	Delayed menarche	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0025515	Delayed thelarche	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008929	Asymmetric short stature	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003498	Disproportionate short stature	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0000839	Pituitary dwarfism	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003508	Proportionate short stature	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0025453	Delayed adrenarche	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0012569	Delayed menarche	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0025515	Delayed thelarche	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008929	Asymmetric short stature	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003498	Disproportionate short stature	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0000839	Pituitary dwarfism	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003508	Proportionate short stature	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0025453	Delayed adrenarche	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0012569	Delayed menarche	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0025515	Delayed thelarche	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008929	Asymmetric short stature	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003498	Disproportionate short stature	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0000839	Pituitary dwarfism	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003508	Proportionate short stature	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0025453	Delayed adrenarche	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0012569	Delayed menarche	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0025515	Delayed thelarche	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008929	Asymmetric short stature	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003498	Disproportionate short stature	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0000839	Pituitary dwarfism	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003508	Proportionate short stature	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0025453	Delayed adrenarche	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0012569	Delayed menarche	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0025515	Delayed thelarche	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008929	Asymmetric short stature	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003498	Disproportionate short stature	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0000839	Pituitary dwarfism	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003508	Proportionate short stature	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0025453	Delayed adrenarche	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0012569	Delayed menarche	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0025515	Delayed thelarche	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008929	Asymmetric short stature	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003498	Disproportionate short stature	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0000839	Pituitary dwarfism	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003508	Proportionate short stature	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0025453	Delayed adrenarche	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0012569	Delayed menarche	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0025515	Delayed thelarche	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008929	Asymmetric short stature	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003498	Disproportionate short stature	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0000839	Pituitary dwarfism	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003508	Proportionate short stature	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0025453	Delayed adrenarche	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0012569	Delayed menarche	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0025515	Delayed thelarche	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008929	Asymmetric short stature	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003498	Disproportionate short stature	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0000839	Pituitary dwarfism	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003508	Proportionate short stature	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0025453	Delayed adrenarche	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0012569	Delayed menarche	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0025515	Delayed thelarche	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008929	Asymmetric short stature	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003498	Disproportionate short stature	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0000839	Pituitary dwarfism	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003508	Proportionate short stature	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0025453	Delayed adrenarche	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0012569	Delayed menarche	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0025515	Delayed thelarche	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008929	Asymmetric short stature	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003498	Disproportionate short stature	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0000839	Pituitary dwarfism	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003508	Proportionate short stature	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0025453	Delayed adrenarche	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0012569	Delayed menarche	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0025515	Delayed thelarche	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008929	Asymmetric short stature	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003498	Disproportionate short stature	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0000839	Pituitary dwarfism	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003508	Proportionate short stature	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0025453	Delayed adrenarche	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0012569	Delayed menarche	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0025515	Delayed thelarche	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008929	Asymmetric short stature	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003498	Disproportionate short stature	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0000839	Pituitary dwarfism	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003508	Proportionate short stature	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0025453	Delayed adrenarche	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0012569	Delayed menarche	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0025515	Delayed thelarche	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008929	Asymmetric short stature	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003498	Disproportionate short stature	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0000839	Pituitary dwarfism	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003508	Proportionate short stature	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0025453	Delayed adrenarche	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0012569	Delayed menarche	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0025515	Delayed thelarche	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008929	Asymmetric short stature	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003498	Disproportionate short stature	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0000839	Pituitary dwarfism	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003508	Proportionate short stature	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0025453	Delayed adrenarche	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0012569	Delayed menarche	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0025515	Delayed thelarche	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008929	Asymmetric short stature	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003498	Disproportionate short stature	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0000839	Pituitary dwarfism	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003508	Proportionate short stature	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0025453	Delayed adrenarche	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0012569	Delayed menarche	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0025515	Delayed thelarche	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008929	Asymmetric short stature	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003498	Disproportionate short stature	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0000839	Pituitary dwarfism	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003508	Proportionate short stature	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0025453	Delayed adrenarche	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0012569	Delayed menarche	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0025515	Delayed thelarche	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008929	Asymmetric short stature	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003498	Disproportionate short stature	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0000839	Pituitary dwarfism	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003508	Proportionate short stature	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0025453	Delayed adrenarche	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0012569	Delayed menarche	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0025515	Delayed thelarche	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008929	Asymmetric short stature	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003498	Disproportionate short stature	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0000839	Pituitary dwarfism	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003508	Proportionate short stature	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0025453	Delayed adrenarche	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0012569	Delayed menarche	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0025515	Delayed thelarche	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008929	Asymmetric short stature	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003498	Disproportionate short stature	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0000839	Pituitary dwarfism	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003508	Proportionate short stature	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0025453	Delayed adrenarche	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0012569	Delayed menarche	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0025515	Delayed thelarche	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008929	Asymmetric short stature	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003498	Disproportionate short stature	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0000839	Pituitary dwarfism	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003508	Proportionate short stature	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0025453	Delayed adrenarche	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0012569	Delayed menarche	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0025515	Delayed thelarche	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008929	Asymmetric short stature	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003498	Disproportionate short stature	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0000839	Pituitary dwarfism	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003508	Proportionate short stature	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0025453	Delayed adrenarche	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0012569	Delayed menarche	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0025515	Delayed thelarche	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008929	Asymmetric short stature	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003498	Disproportionate short stature	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0000839	Pituitary dwarfism	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003508	Proportionate short stature	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0025453	Delayed adrenarche	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0012569	Delayed menarche	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0025515	Delayed thelarche	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008929	Asymmetric short stature	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003498	Disproportionate short stature	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0000839	Pituitary dwarfism	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003508	Proportionate short stature	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0025453	Delayed adrenarche	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0012569	Delayed menarche	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0025515	Delayed thelarche	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008929	Asymmetric short stature	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003498	Disproportionate short stature	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0000839	Pituitary dwarfism	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003508	Proportionate short stature	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0025453	Delayed adrenarche	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0012569	Delayed menarche	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0025515	Delayed thelarche	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008929	Asymmetric short stature	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003498	Disproportionate short stature	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0000839	Pituitary dwarfism	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003508	Proportionate short stature	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0025453	Delayed adrenarche	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0012569	Delayed menarche	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0025515	Delayed thelarche	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008929	Asymmetric short stature	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003498	Disproportionate short stature	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0000839	Pituitary dwarfism	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003508	Proportionate short stature	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0025453	Delayed adrenarche	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0012569	Delayed menarche	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0025515	Delayed thelarche	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008929	Asymmetric short stature	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003498	Disproportionate short stature	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0000839	Pituitary dwarfism	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003508	Proportionate short stature	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0025453	Delayed adrenarche	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0012569	Delayed menarche	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0025515	Delayed thelarche	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008929	Asymmetric short stature	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003498	Disproportionate short stature	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0000839	Pituitary dwarfism	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003508	Proportionate short stature	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0025453	Delayed adrenarche	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0012569	Delayed menarche	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0025515	Delayed thelarche	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008929	Asymmetric short stature	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003498	Disproportionate short stature	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0000839	Pituitary dwarfism	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003508	Proportionate short stature	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0025453	Delayed adrenarche	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0012569	Delayed menarche	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0025515	Delayed thelarche	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008929	Asymmetric short stature	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003498	Disproportionate short stature	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0000839	Pituitary dwarfism	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003508	Proportionate short stature	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0025453	Delayed adrenarche	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0012569	Delayed menarche	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0025515	Delayed thelarche	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008929	Asymmetric short stature	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003498	Disproportionate short stature	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0000839	Pituitary dwarfism	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003508	Proportionate short stature	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0025453	Delayed adrenarche	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0012569	Delayed menarche	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0025515	Delayed thelarche	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008929	Asymmetric short stature	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003498	Disproportionate short stature	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0000839	Pituitary dwarfism	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003508	Proportionate short stature	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0025453	Delayed adrenarche	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0012569	Delayed menarche	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0025515	Delayed thelarche	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008929	Asymmetric short stature	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003498	Disproportionate short stature	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0000839	Pituitary dwarfism	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003508	Proportionate short stature	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0025453	Delayed adrenarche	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0012569	Delayed menarche	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0025515	Delayed thelarche	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008929	Asymmetric short stature	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003498	Disproportionate short stature	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0000839	Pituitary dwarfism	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003508	Proportionate short stature	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0025453	Delayed adrenarche	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0012569	Delayed menarche	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0025515	Delayed thelarche	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008929	Asymmetric short stature	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003498	Disproportionate short stature	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0000839	Pituitary dwarfism	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003508	Proportionate short stature	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0025453	Delayed adrenarche	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0012569	Delayed menarche	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0025515	Delayed thelarche	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008929	Asymmetric short stature	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003498	Disproportionate short stature	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0000839	Pituitary dwarfism	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003508	Proportionate short stature	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0025453	Delayed adrenarche	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0012569	Delayed menarche	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0025515	Delayed thelarche	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008929	Asymmetric short stature	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003498	Disproportionate short stature	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0000839	Pituitary dwarfism	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003508	Proportionate short stature	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0025453	Delayed adrenarche	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0012569	Delayed menarche	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0025515	Delayed thelarche	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008929	Asymmetric short stature	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003498	Disproportionate short stature	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0000839	Pituitary dwarfism	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003508	Proportionate short stature	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0025453	Delayed adrenarche	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0012569	Delayed menarche	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0025515	Delayed thelarche	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008929	Asymmetric short stature	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003498	Disproportionate short stature	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0000839	Pituitary dwarfism	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003508	Proportionate short stature	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0025453	Delayed adrenarche	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0012569	Delayed menarche	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0025515	Delayed thelarche	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008929	Asymmetric short stature	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003498	Disproportionate short stature	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0000839	Pituitary dwarfism	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003508	Proportionate short stature	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0025453	Delayed adrenarche	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0012569	Delayed menarche	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0025515	Delayed thelarche	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008929	Asymmetric short stature	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003498	Disproportionate short stature	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0000839	Pituitary dwarfism	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003508	Proportionate short stature	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0025453	Delayed adrenarche	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0012569	Delayed menarche	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0025515	Delayed thelarche	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008929	Asymmetric short stature	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003498	Disproportionate short stature	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0000839	Pituitary dwarfism	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003508	Proportionate short stature	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0025453	Delayed adrenarche	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0012569	Delayed menarche	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0025515	Delayed thelarche	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008929	Asymmetric short stature	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003498	Disproportionate short stature	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0000839	Pituitary dwarfism	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003508	Proportionate short stature	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0025453	Delayed adrenarche	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0012569	Delayed menarche	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0025515	Delayed thelarche	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008929	Asymmetric short stature	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003498	Disproportionate short stature	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0000839	Pituitary dwarfism	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003508	Proportionate short stature	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0025453	Delayed adrenarche	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0012569	Delayed menarche	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0025515	Delayed thelarche	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008929	Asymmetric short stature	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003498	Disproportionate short stature	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0000839	Pituitary dwarfism	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003508	Proportionate short stature	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0025453	Delayed adrenarche	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0012569	Delayed menarche	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0025515	Delayed thelarche	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008929	Asymmetric short stature	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003498	Disproportionate short stature	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0000839	Pituitary dwarfism	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003508	Proportionate short stature	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0025453	Delayed adrenarche	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0012569	Delayed menarche	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0025515	Delayed thelarche	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008929	Asymmetric short stature	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003498	Disproportionate short stature	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0000839	Pituitary dwarfism	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003508	Proportionate short stature	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0025453	Delayed adrenarche	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0012569	Delayed menarche	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0025515	Delayed thelarche	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008929	Asymmetric short stature	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003498	Disproportionate short stature	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0000839	Pituitary dwarfism	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003508	Proportionate short stature	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0025453	Delayed adrenarche	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0012569	Delayed menarche	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0025515	Delayed thelarche	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008929	Asymmetric short stature	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003498	Disproportionate short stature	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0000839	Pituitary dwarfism	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003508	Proportionate short stature	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0025453	Delayed adrenarche	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0012569	Delayed menarche	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0025515	Delayed thelarche	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008929	Asymmetric short stature	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003498	Disproportionate short stature	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0000839	Pituitary dwarfism	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003508	Proportionate short stature	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0025453	Delayed adrenarche	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0012569	Delayed menarche	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0025515	Delayed thelarche	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008929	Asymmetric short stature	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003498	Disproportionate short stature	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0000839	Pituitary dwarfism	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003508	Proportionate short stature	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0025453	Delayed adrenarche	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0012569	Delayed menarche	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0025515	Delayed thelarche	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008929	Asymmetric short stature	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003498	Disproportionate short stature	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0000839	Pituitary dwarfism	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003508	Proportionate short stature	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0025453	Delayed adrenarche	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0012569	Delayed menarche	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0025515	Delayed thelarche	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008929	Asymmetric short stature	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003498	Disproportionate short stature	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0000839	Pituitary dwarfism	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003508	Proportionate short stature	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0025453	Delayed adrenarche	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0012569	Delayed menarche	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0025515	Delayed thelarche	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008929	Asymmetric short stature	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003498	Disproportionate short stature	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0000839	Pituitary dwarfism	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003508	Proportionate short stature	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0025453	Delayed adrenarche	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0012569	Delayed menarche	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0025515	Delayed thelarche	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008929	Asymmetric short stature	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003498	Disproportionate short stature	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0000839	Pituitary dwarfism	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003508	Proportionate short stature	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0025453	Delayed adrenarche	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0012569	Delayed menarche	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0025515	Delayed thelarche	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008929	Asymmetric short stature	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003498	Disproportionate short stature	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0000839	Pituitary dwarfism	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003508	Proportionate short stature	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0025453	Delayed adrenarche	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0012569	Delayed menarche	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0025515	Delayed thelarche	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008929	Asymmetric short stature	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003498	Disproportionate short stature	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0000839	Pituitary dwarfism	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003508	Proportionate short stature	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0025453	Delayed adrenarche	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0012569	Delayed menarche	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0025515	Delayed thelarche	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008929	Asymmetric short stature	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003498	Disproportionate short stature	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0000839	Pituitary dwarfism	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003508	Proportionate short stature	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0025453	Delayed adrenarche	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0012569	Delayed menarche	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0025515	Delayed thelarche	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008929	Asymmetric short stature	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003498	Disproportionate short stature	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0000839	Pituitary dwarfism	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003508	Proportionate short stature	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0025453	Delayed adrenarche	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0012569	Delayed menarche	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0025515	Delayed thelarche	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008929	Asymmetric short stature	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003498	Disproportionate short stature	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0000839	Pituitary dwarfism	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003508	Proportionate short stature	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0025453	Delayed adrenarche	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0012569	Delayed menarche	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0025515	Delayed thelarche	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008929	Asymmetric short stature	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003498	Disproportionate short stature	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0000839	Pituitary dwarfism	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003508	Proportionate short stature	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0025453	Delayed adrenarche	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0012569	Delayed menarche	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0025515	Delayed thelarche	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008929	Asymmetric short stature	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003498	Disproportionate short stature	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0000839	Pituitary dwarfism	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003508	Proportionate short stature	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0025453	Delayed adrenarche	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0012569	Delayed menarche	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0025515	Delayed thelarche	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008929	Asymmetric short stature	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003498	Disproportionate short stature	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0000839	Pituitary dwarfism	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003508	Proportionate short stature	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0025453	Delayed adrenarche	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0012569	Delayed menarche	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0025515	Delayed thelarche	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008929	Asymmetric short stature	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003498	Disproportionate short stature	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0000839	Pituitary dwarfism	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003508	Proportionate short stature	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0025453	Delayed adrenarche	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0012569	Delayed menarche	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0025515	Delayed thelarche	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008929	Asymmetric short stature	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003498	Disproportionate short stature	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0000839	Pituitary dwarfism	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003508	Proportionate short stature	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0025453	Delayed adrenarche	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0012569	Delayed menarche	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0025515	Delayed thelarche	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008929	Asymmetric short stature	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003498	Disproportionate short stature	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0000839	Pituitary dwarfism	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003508	Proportionate short stature	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0025453	Delayed adrenarche	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0012569	Delayed menarche	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0025515	Delayed thelarche	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008929	Asymmetric short stature	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003498	Disproportionate short stature	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0000839	Pituitary dwarfism	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003508	Proportionate short stature	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0025453	Delayed adrenarche	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0012569	Delayed menarche	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0025515	Delayed thelarche	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008929	Asymmetric short stature	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003498	Disproportionate short stature	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0000839	Pituitary dwarfism	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003508	Proportionate short stature	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0025453	Delayed adrenarche	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0012569	Delayed menarche	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0025515	Delayed thelarche	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008929	Asymmetric short stature	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003498	Disproportionate short stature	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0000839	Pituitary dwarfism	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003508	Proportionate short stature	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0025453	Delayed adrenarche	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0012569	Delayed menarche	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0025515	Delayed thelarche	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008929	Asymmetric short stature	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003498	Disproportionate short stature	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0000839	Pituitary dwarfism	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003508	Proportionate short stature	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0025453	Delayed adrenarche	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0012569	Delayed menarche	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0025515	Delayed thelarche	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008929	Asymmetric short stature	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003498	Disproportionate short stature	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0000839	Pituitary dwarfism	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003508	Proportionate short stature	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0025453	Delayed adrenarche	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0012569	Delayed menarche	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0025515	Delayed thelarche	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008929	Asymmetric short stature	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003498	Disproportionate short stature	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0000839	Pituitary dwarfism	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003508	Proportionate short stature	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0025453	Delayed adrenarche	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0012569	Delayed menarche	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0025515	Delayed thelarche	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008929	Asymmetric short stature	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003498	Disproportionate short stature	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0000839	Pituitary dwarfism	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003508	Proportionate short stature	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0025453	Delayed adrenarche	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0012569	Delayed menarche	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0025515	Delayed thelarche	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008929	Asymmetric short stature	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003498	Disproportionate short stature	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0000839	Pituitary dwarfism	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003508	Proportionate short stature	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0025453	Delayed adrenarche	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0012569	Delayed menarche	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0025515	Delayed thelarche	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008929	Asymmetric short stature	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003498	Disproportionate short stature	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0000839	Pituitary dwarfism	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003508	Proportionate short stature	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0025453	Delayed adrenarche	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0012569	Delayed menarche	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0025515	Delayed thelarche	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008929	Asymmetric short stature	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003498	Disproportionate short stature	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0000839	Pituitary dwarfism	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003508	Proportionate short stature	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0025453	Delayed adrenarche	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0012569	Delayed menarche	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0025515	Delayed thelarche	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008929	Asymmetric short stature	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003498	Disproportionate short stature	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0000839	Pituitary dwarfism	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003508	Proportionate short stature	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0025453	Delayed adrenarche	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0012569	Delayed menarche	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0025515	Delayed thelarche	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008929	Asymmetric short stature	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003498	Disproportionate short stature	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0000839	Pituitary dwarfism	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003508	Proportionate short stature	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0025453	Delayed adrenarche	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0012569	Delayed menarche	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0025515	Delayed thelarche	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008929	Asymmetric short stature	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003498	Disproportionate short stature	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0000839	Pituitary dwarfism	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003508	Proportionate short stature	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0025453	Delayed adrenarche	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0012569	Delayed menarche	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0025515	Delayed thelarche	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008929	Asymmetric short stature	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003498	Disproportionate short stature	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0000839	Pituitary dwarfism	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003508	Proportionate short stature	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0025453	Delayed adrenarche	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0012569	Delayed menarche	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0025515	Delayed thelarche	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008929	Asymmetric short stature	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003498	Disproportionate short stature	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0000839	Pituitary dwarfism	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003508	Proportionate short stature	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0025453	Delayed adrenarche	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0012569	Delayed menarche	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0025515	Delayed thelarche	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008929	Asymmetric short stature	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003498	Disproportionate short stature	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0000839	Pituitary dwarfism	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003508	Proportionate short stature	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0025453	Delayed adrenarche	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0012569	Delayed menarche	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0025515	Delayed thelarche	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008929	Asymmetric short stature	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003498	Disproportionate short stature	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0000839	Pituitary dwarfism	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003508	Proportionate short stature	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0025453	Delayed adrenarche	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0012569	Delayed menarche	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0025515	Delayed thelarche	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008929	Asymmetric short stature	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003498	Disproportionate short stature	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0000839	Pituitary dwarfism	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003508	Proportionate short stature	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0025453	Delayed adrenarche	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0012569	Delayed menarche	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0025515	Delayed thelarche	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008929	Asymmetric short stature	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003498	Disproportionate short stature	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0000839	Pituitary dwarfism	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003508	Proportionate short stature	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0025453	Delayed adrenarche	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0012569	Delayed menarche	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0025515	Delayed thelarche	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008929	Asymmetric short stature	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003498	Disproportionate short stature	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0000839	Pituitary dwarfism	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003508	Proportionate short stature	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0025453	Delayed adrenarche	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0012569	Delayed menarche	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0025515	Delayed thelarche	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008929	Asymmetric short stature	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003498	Disproportionate short stature	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0000839	Pituitary dwarfism	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003508	Proportionate short stature	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0025453	Delayed adrenarche	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0012569	Delayed menarche	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0025515	Delayed thelarche	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008929	Asymmetric short stature	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003498	Disproportionate short stature	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0000839	Pituitary dwarfism	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003508	Proportionate short stature	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0025453	Delayed adrenarche	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0012569	Delayed menarche	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0025515	Delayed thelarche	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008929	Asymmetric short stature	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003498	Disproportionate short stature	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0000839	Pituitary dwarfism	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003508	Proportionate short stature	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0012569	Delayed menarche	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0025515	Delayed thelarche	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003508	Proportionate short stature	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0012569	Delayed menarche	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0025515	Delayed thelarche	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003508	Proportionate short stature	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0012569	Delayed menarche	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0025515	Delayed thelarche	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003508	Proportionate short stature	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0012569	Delayed menarche	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0025515	Delayed thelarche	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003508	Proportionate short stature	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0012569	Delayed menarche	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0025515	Delayed thelarche	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003508	Proportionate short stature	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0012569	Delayed menarche	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0025515	Delayed thelarche	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003508	Proportionate short stature	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0012569	Delayed menarche	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0025515	Delayed thelarche	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003508	Proportionate short stature	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0012569	Delayed menarche	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0025515	Delayed thelarche	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003508	Proportionate short stature	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0025453	Delayed adrenarche	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0012569	Delayed menarche	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0025515	Delayed thelarche	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008929	Asymmetric short stature	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003498	Disproportionate short stature	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0000839	Pituitary dwarfism	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003508	Proportionate short stature	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0025453	Delayed adrenarche	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0012569	Delayed menarche	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0025515	Delayed thelarche	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008929	Asymmetric short stature	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003498	Disproportionate short stature	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0000839	Pituitary dwarfism	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003508	Proportionate short stature	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0025453	Delayed adrenarche	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0012569	Delayed menarche	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0025515	Delayed thelarche	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008929	Asymmetric short stature	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003498	Disproportionate short stature	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0000839	Pituitary dwarfism	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003508	Proportionate short stature	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0025453	Delayed adrenarche	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0012569	Delayed menarche	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0025515	Delayed thelarche	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008929	Asymmetric short stature	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003498	Disproportionate short stature	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0000839	Pituitary dwarfism	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003508	Proportionate short stature	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0025453	Delayed adrenarche	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0012569	Delayed menarche	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0025515	Delayed thelarche	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008929	Asymmetric short stature	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003498	Disproportionate short stature	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0000839	Pituitary dwarfism	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003508	Proportionate short stature	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0025453	Delayed adrenarche	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0012569	Delayed menarche	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0025515	Delayed thelarche	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008929	Asymmetric short stature	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003498	Disproportionate short stature	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0000839	Pituitary dwarfism	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003508	Proportionate short stature	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0025453	Delayed adrenarche	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0012569	Delayed menarche	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0025515	Delayed thelarche	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008929	Asymmetric short stature	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003498	Disproportionate short stature	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0000839	Pituitary dwarfism	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003508	Proportionate short stature	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0025453	Delayed adrenarche	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0012569	Delayed menarche	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0025515	Delayed thelarche	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008929	Asymmetric short stature	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003498	Disproportionate short stature	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0000839	Pituitary dwarfism	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003508	Proportionate short stature	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0025453	Delayed adrenarche	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0012569	Delayed menarche	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0025515	Delayed thelarche	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008929	Asymmetric short stature	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003498	Disproportionate short stature	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0000839	Pituitary dwarfism	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003508	Proportionate short stature	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0025453	Delayed adrenarche	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0012569	Delayed menarche	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0025515	Delayed thelarche	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008929	Asymmetric short stature	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003498	Disproportionate short stature	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0000839	Pituitary dwarfism	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003508	Proportionate short stature	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0025453	Delayed adrenarche	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0012569	Delayed menarche	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0025515	Delayed thelarche	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008929	Asymmetric short stature	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003498	Disproportionate short stature	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0000839	Pituitary dwarfism	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003508	Proportionate short stature	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0025453	Delayed adrenarche	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0012569	Delayed menarche	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0025515	Delayed thelarche	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008929	Asymmetric short stature	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003498	Disproportionate short stature	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0000839	Pituitary dwarfism	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003508	Proportionate short stature	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0025453	Delayed adrenarche	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0012569	Delayed menarche	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0025515	Delayed thelarche	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008929	Asymmetric short stature	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003498	Disproportionate short stature	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0000839	Pituitary dwarfism	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003508	Proportionate short stature	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0025453	Delayed adrenarche	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0012569	Delayed menarche	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0025515	Delayed thelarche	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008929	Asymmetric short stature	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003498	Disproportionate short stature	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0000839	Pituitary dwarfism	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003508	Proportionate short stature	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0025453	Delayed adrenarche	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0012569	Delayed menarche	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0025515	Delayed thelarche	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008929	Asymmetric short stature	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003498	Disproportionate short stature	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0000839	Pituitary dwarfism	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003508	Proportionate short stature	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0025453	Delayed adrenarche	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0012569	Delayed menarche	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0025515	Delayed thelarche	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008929	Asymmetric short stature	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003498	Disproportionate short stature	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0000839	Pituitary dwarfism	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003508	Proportionate short stature	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0025453	Delayed adrenarche	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0012569	Delayed menarche	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0025515	Delayed thelarche	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008929	Asymmetric short stature	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003498	Disproportionate short stature	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0000839	Pituitary dwarfism	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003508	Proportionate short stature	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0025453	Delayed adrenarche	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0012569	Delayed menarche	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0025515	Delayed thelarche	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008929	Asymmetric short stature	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003498	Disproportionate short stature	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0000839	Pituitary dwarfism	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003508	Proportionate short stature	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0025453	Delayed adrenarche	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0012569	Delayed menarche	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0025515	Delayed thelarche	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008929	Asymmetric short stature	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003498	Disproportionate short stature	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0000839	Pituitary dwarfism	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003508	Proportionate short stature	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0025453	Delayed adrenarche	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0012569	Delayed menarche	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0025515	Delayed thelarche	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008929	Asymmetric short stature	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003498	Disproportionate short stature	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0000839	Pituitary dwarfism	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003508	Proportionate short stature	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0025453	Delayed adrenarche	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0012569	Delayed menarche	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0025515	Delayed thelarche	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008929	Asymmetric short stature	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003498	Disproportionate short stature	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0000839	Pituitary dwarfism	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003508	Proportionate short stature	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0025453	Delayed adrenarche	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0012569	Delayed menarche	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0025515	Delayed thelarche	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008929	Asymmetric short stature	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003498	Disproportionate short stature	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0000839	Pituitary dwarfism	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003508	Proportionate short stature	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0025453	Delayed adrenarche	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0012569	Delayed menarche	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0025515	Delayed thelarche	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008929	Asymmetric short stature	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003498	Disproportionate short stature	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0000839	Pituitary dwarfism	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003508	Proportionate short stature	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0025453	Delayed adrenarche	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0012569	Delayed menarche	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0025515	Delayed thelarche	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008929	Asymmetric short stature	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003498	Disproportionate short stature	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0000839	Pituitary dwarfism	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003508	Proportionate short stature	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0025453	Delayed adrenarche	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0012569	Delayed menarche	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0025515	Delayed thelarche	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008929	Asymmetric short stature	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003498	Disproportionate short stature	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0000839	Pituitary dwarfism	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003508	Proportionate short stature	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0025453	Delayed adrenarche	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0012569	Delayed menarche	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0025515	Delayed thelarche	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008929	Asymmetric short stature	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003498	Disproportionate short stature	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0000839	Pituitary dwarfism	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003508	Proportionate short stature	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0025453	Delayed adrenarche	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0012569	Delayed menarche	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0025515	Delayed thelarche	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008929	Asymmetric short stature	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003498	Disproportionate short stature	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0000839	Pituitary dwarfism	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003508	Proportionate short stature	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0025453	Delayed adrenarche	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0012569	Delayed menarche	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0025515	Delayed thelarche	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008929	Asymmetric short stature	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003498	Disproportionate short stature	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0000839	Pituitary dwarfism	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003508	Proportionate short stature	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0025453	Delayed adrenarche	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0012569	Delayed menarche	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0025515	Delayed thelarche	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008929	Asymmetric short stature	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003498	Disproportionate short stature	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0000839	Pituitary dwarfism	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003508	Proportionate short stature	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0025453	Delayed adrenarche	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0012569	Delayed menarche	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0025515	Delayed thelarche	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008929	Asymmetric short stature	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003498	Disproportionate short stature	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0000839	Pituitary dwarfism	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003508	Proportionate short stature	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0025453	Delayed adrenarche	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0012569	Delayed menarche	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0025515	Delayed thelarche	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008929	Asymmetric short stature	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003498	Disproportionate short stature	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0000839	Pituitary dwarfism	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003508	Proportionate short stature	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0025453	Delayed adrenarche	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0012569	Delayed menarche	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0025515	Delayed thelarche	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008929	Asymmetric short stature	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003498	Disproportionate short stature	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0000839	Pituitary dwarfism	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003508	Proportionate short stature	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003502	Mild short stature	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008848	Moderately short stature	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003510	Severe short stature	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003502	Mild short stature	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008848	Moderately short stature	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003510	Severe short stature	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003502	Mild short stature	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008848	Moderately short stature	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003510	Severe short stature	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003502	Mild short stature	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008848	Moderately short stature	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003510	Severe short stature	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003502	Mild short stature	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008848	Moderately short stature	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003510	Severe short stature	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003502	Mild short stature	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008848	Moderately short stature	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003510	Severe short stature	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003502	Mild short stature	3	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008848	Moderately short stature	3	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003510	Severe short stature	3	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003502	Mild short stature	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008848	Moderately short stature	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003510	Severe short stature	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003502	Mild short stature	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008848	Moderately short stature	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003510	Severe short stature	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003502	Mild short stature	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008848	Moderately short stature	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003510	Severe short stature	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003502	Mild short stature	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008848	Moderately short stature	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003510	Severe short stature	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003502	Mild short stature	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008848	Moderately short stature	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003510	Severe short stature	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003502	Mild short stature	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008848	Moderately short stature	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003510	Severe short stature	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003502	Mild short stature	3	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008848	Moderately short stature	3	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003510	Severe short stature	3	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003502	Mild short stature	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008848	Moderately short stature	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003510	Severe short stature	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003502	Mild short stature	3	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008848	Moderately short stature	3	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003510	Severe short stature	3	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003502	Mild short stature	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008848	Moderately short stature	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003510	Severe short stature	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003502	Mild short stature	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008848	Moderately short stature	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003510	Severe short stature	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003502	Mild short stature	3	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008848	Moderately short stature	3	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003510	Severe short stature	3	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003502	Mild short stature	3	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008848	Moderately short stature	3	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003510	Severe short stature	3	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003502	Mild short stature	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008848	Moderately short stature	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003510	Severe short stature	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003502	Mild short stature	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008848	Moderately short stature	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003510	Severe short stature	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003502	Mild short stature	3	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008848	Moderately short stature	3	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003510	Severe short stature	3	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003502	Mild short stature	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008848	Moderately short stature	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003510	Severe short stature	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003502	Mild short stature	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008848	Moderately short stature	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003510	Severe short stature	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003502	Mild short stature	3	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008848	Moderately short stature	3	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003510	Severe short stature	3	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003502	Mild short stature	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008848	Moderately short stature	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003510	Severe short stature	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003502	Mild short stature	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008848	Moderately short stature	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003510	Severe short stature	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003502	Mild short stature	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008848	Moderately short stature	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003510	Severe short stature	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003502	Mild short stature	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008848	Moderately short stature	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003510	Severe short stature	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003502	Mild short stature	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008848	Moderately short stature	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003510	Severe short stature	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003502	Mild short stature	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008848	Moderately short stature	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003510	Severe short stature	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003502	Mild short stature	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008848	Moderately short stature	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003510	Severe short stature	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003502	Mild short stature	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008848	Moderately short stature	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003510	Severe short stature	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003502	Mild short stature	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008848	Moderately short stature	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003510	Severe short stature	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003502	Mild short stature	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008848	Moderately short stature	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003510	Severe short stature	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003502	Mild short stature	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008848	Moderately short stature	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003510	Severe short stature	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003502	Mild short stature	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008848	Moderately short stature	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003510	Severe short stature	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003502	Mild short stature	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008848	Moderately short stature	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003510	Severe short stature	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003502	Mild short stature	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008848	Moderately short stature	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003510	Severe short stature	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003502	Mild short stature	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008848	Moderately short stature	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003510	Severe short stature	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003502	Mild short stature	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008848	Moderately short stature	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003510	Severe short stature	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003502	Mild short stature	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008848	Moderately short stature	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003510	Severe short stature	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003502	Mild short stature	3	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008848	Moderately short stature	3	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003510	Severe short stature	3	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003502	Mild short stature	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008848	Moderately short stature	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003510	Severe short stature	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003502	Mild short stature	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008848	Moderately short stature	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003510	Severe short stature	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003502	Mild short stature	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008848	Moderately short stature	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003510	Severe short stature	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003502	Mild short stature	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008848	Moderately short stature	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003510	Severe short stature	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003502	Mild short stature	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008848	Moderately short stature	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003510	Severe short stature	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003502	Mild short stature	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008848	Moderately short stature	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003510	Severe short stature	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003502	Mild short stature	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008848	Moderately short stature	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003510	Severe short stature	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003502	Mild short stature	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008848	Moderately short stature	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003510	Severe short stature	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003502	Mild short stature	3	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008848	Moderately short stature	3	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003510	Severe short stature	3	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003502	Mild short stature	3	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008848	Moderately short stature	3	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003510	Severe short stature	3	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003502	Mild short stature	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008848	Moderately short stature	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003510	Severe short stature	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003502	Mild short stature	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008848	Moderately short stature	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003510	Severe short stature	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003502	Mild short stature	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008848	Moderately short stature	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003510	Severe short stature	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003502	Mild short stature	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008848	Moderately short stature	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003510	Severe short stature	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003502	Mild short stature	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008848	Moderately short stature	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003510	Severe short stature	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003502	Mild short stature	3	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008848	Moderately short stature	3	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003510	Severe short stature	3	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003502	Mild short stature	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008848	Moderately short stature	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003510	Severe short stature	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003502	Mild short stature	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008848	Moderately short stature	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003510	Severe short stature	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003502	Mild short stature	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008848	Moderately short stature	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003510	Severe short stature	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003502	Mild short stature	3	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008848	Moderately short stature	3	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003510	Severe short stature	3	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003502	Mild short stature	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008848	Moderately short stature	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003510	Severe short stature	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003502	Mild short stature	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008848	Moderately short stature	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003510	Severe short stature	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003502	Mild short stature	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008848	Moderately short stature	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003510	Severe short stature	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003502	Mild short stature	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008848	Moderately short stature	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003510	Severe short stature	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003502	Mild short stature	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008848	Moderately short stature	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003510	Severe short stature	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003502	Mild short stature	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008848	Moderately short stature	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003510	Severe short stature	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003502	Mild short stature	3	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008848	Moderately short stature	3	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003510	Severe short stature	3	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003502	Mild short stature	3	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008848	Moderately short stature	3	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003510	Severe short stature	3	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003502	Mild short stature	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008848	Moderately short stature	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003510	Severe short stature	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003502	Mild short stature	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008848	Moderately short stature	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003510	Severe short stature	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003502	Mild short stature	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008848	Moderately short stature	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003510	Severe short stature	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003502	Mild short stature	3	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008848	Moderately short stature	3	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003510	Severe short stature	3	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003502	Mild short stature	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008848	Moderately short stature	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003510	Severe short stature	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003502	Mild short stature	3	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008848	Moderately short stature	3	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003510	Severe short stature	3	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003502	Mild short stature	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008848	Moderately short stature	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003510	Severe short stature	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003502	Mild short stature	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008848	Moderately short stature	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003510	Severe short stature	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003502	Mild short stature	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008848	Moderately short stature	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003510	Severe short stature	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003502	Mild short stature	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008848	Moderately short stature	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003510	Severe short stature	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003502	Mild short stature	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008848	Moderately short stature	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003510	Severe short stature	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003502	Mild short stature	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008848	Moderately short stature	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003510	Severe short stature	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003502	Mild short stature	3	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008848	Moderately short stature	3	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003510	Severe short stature	3	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003502	Mild short stature	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008848	Moderately short stature	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003510	Severe short stature	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003502	Mild short stature	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008848	Moderately short stature	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003510	Severe short stature	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003502	Mild short stature	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008848	Moderately short stature	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003510	Severe short stature	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003502	Mild short stature	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008848	Moderately short stature	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003510	Severe short stature	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003502	Mild short stature	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008848	Moderately short stature	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003510	Severe short stature	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003502	Mild short stature	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008848	Moderately short stature	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003510	Severe short stature	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003502	Mild short stature	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008848	Moderately short stature	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003510	Severe short stature	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003502	Mild short stature	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008848	Moderately short stature	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003510	Severe short stature	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003502	Mild short stature	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008848	Moderately short stature	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003510	Severe short stature	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003502	Mild short stature	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008848	Moderately short stature	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003510	Severe short stature	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003502	Mild short stature	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008848	Moderately short stature	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003510	Severe short stature	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003502	Mild short stature	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008848	Moderately short stature	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003510	Severe short stature	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003502	Mild short stature	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008848	Moderately short stature	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003510	Severe short stature	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003502	Mild short stature	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008848	Moderately short stature	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003510	Severe short stature	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003502	Mild short stature	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008848	Moderately short stature	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003510	Severe short stature	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003502	Mild short stature	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008848	Moderately short stature	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003510	Severe short stature	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003502	Mild short stature	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008848	Moderately short stature	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003510	Severe short stature	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003502	Mild short stature	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008848	Moderately short stature	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003510	Severe short stature	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003502	Mild short stature	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008848	Moderately short stature	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003510	Severe short stature	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003502	Mild short stature	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008848	Moderately short stature	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003510	Severe short stature	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003502	Mild short stature	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008848	Moderately short stature	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003510	Severe short stature	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003502	Mild short stature	3	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008848	Moderately short stature	3	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003510	Severe short stature	3	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003502	Mild short stature	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008848	Moderately short stature	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003510	Severe short stature	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003502	Mild short stature	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008848	Moderately short stature	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003510	Severe short stature	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003502	Mild short stature	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008848	Moderately short stature	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003510	Severe short stature	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003502	Mild short stature	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008848	Moderately short stature	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003510	Severe short stature	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003502	Mild short stature	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008848	Moderately short stature	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003510	Severe short stature	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003502	Mild short stature	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008848	Moderately short stature	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003510	Severe short stature	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003502	Mild short stature	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008848	Moderately short stature	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003510	Severe short stature	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003502	Mild short stature	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008848	Moderately short stature	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003510	Severe short stature	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003502	Mild short stature	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008848	Moderately short stature	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003510	Severe short stature	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003502	Mild short stature	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008848	Moderately short stature	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003510	Severe short stature	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003502	Mild short stature	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008848	Moderately short stature	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003510	Severe short stature	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003502	Mild short stature	3	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008848	Moderately short stature	3	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003510	Severe short stature	3	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003502	Mild short stature	3	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008848	Moderately short stature	3	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003510	Severe short stature	3	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003502	Mild short stature	3	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008848	Moderately short stature	3	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003510	Severe short stature	3	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003502	Mild short stature	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008848	Moderately short stature	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003510	Severe short stature	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003502	Mild short stature	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008848	Moderately short stature	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003510	Severe short stature	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003502	Mild short stature	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008848	Moderately short stature	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003510	Severe short stature	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003502	Mild short stature	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008848	Moderately short stature	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003510	Severe short stature	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003502	Mild short stature	3	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008848	Moderately short stature	3	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003510	Severe short stature	3	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003502	Mild short stature	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008848	Moderately short stature	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003510	Severe short stature	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003502	Mild short stature	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008848	Moderately short stature	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003510	Severe short stature	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003502	Mild short stature	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008848	Moderately short stature	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003510	Severe short stature	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003502	Mild short stature	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008848	Moderately short stature	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003510	Severe short stature	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003502	Mild short stature	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008848	Moderately short stature	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003510	Severe short stature	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003502	Mild short stature	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008848	Moderately short stature	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003510	Severe short stature	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003502	Mild short stature	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008848	Moderately short stature	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003510	Severe short stature	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003502	Mild short stature	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008848	Moderately short stature	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003510	Severe short stature	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003502	Mild short stature	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008848	Moderately short stature	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003510	Severe short stature	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003502	Mild short stature	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008848	Moderately short stature	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003510	Severe short stature	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003502	Mild short stature	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008848	Moderately short stature	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003510	Severe short stature	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003502	Mild short stature	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008848	Moderately short stature	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003510	Severe short stature	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003502	Mild short stature	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008848	Moderately short stature	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003510	Severe short stature	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003502	Mild short stature	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008848	Moderately short stature	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003510	Severe short stature	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003502	Mild short stature	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008848	Moderately short stature	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003510	Severe short stature	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003502	Mild short stature	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008848	Moderately short stature	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003510	Severe short stature	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003502	Mild short stature	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008848	Moderately short stature	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003510	Severe short stature	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003502	Mild short stature	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008848	Moderately short stature	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003510	Severe short stature	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003502	Mild short stature	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008848	Moderately short stature	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003510	Severe short stature	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003502	Mild short stature	3	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008848	Moderately short stature	3	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003510	Severe short stature	3	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003502	Mild short stature	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008848	Moderately short stature	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003510	Severe short stature	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003502	Mild short stature	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008848	Moderately short stature	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003510	Severe short stature	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003502	Mild short stature	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008848	Moderately short stature	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003510	Severe short stature	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003502	Mild short stature	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008848	Moderately short stature	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003510	Severe short stature	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003502	Mild short stature	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008848	Moderately short stature	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003510	Severe short stature	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003502	Mild short stature	3	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008848	Moderately short stature	3	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003510	Severe short stature	3	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003502	Mild short stature	3	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008848	Moderately short stature	3	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003510	Severe short stature	3	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003502	Mild short stature	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008848	Moderately short stature	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003510	Severe short stature	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003502	Mild short stature	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008848	Moderately short stature	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003510	Severe short stature	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003502	Mild short stature	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008848	Moderately short stature	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003510	Severe short stature	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003502	Mild short stature	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008848	Moderately short stature	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003510	Severe short stature	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003502	Mild short stature	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008848	Moderately short stature	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003510	Severe short stature	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003502	Mild short stature	3	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008848	Moderately short stature	3	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003510	Severe short stature	3	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003502	Mild short stature	3	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008848	Moderately short stature	3	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003510	Severe short stature	3	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003502	Mild short stature	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008848	Moderately short stature	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003510	Severe short stature	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003502	Mild short stature	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008848	Moderately short stature	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003510	Severe short stature	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003502	Mild short stature	3	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008848	Moderately short stature	3	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003510	Severe short stature	3	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003502	Mild short stature	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008848	Moderately short stature	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003510	Severe short stature	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003502	Mild short stature	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008848	Moderately short stature	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003510	Severe short stature	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003502	Mild short stature	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008848	Moderately short stature	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003510	Severe short stature	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003502	Mild short stature	3	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008848	Moderately short stature	3	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003510	Severe short stature	3	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003502	Mild short stature	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008848	Moderately short stature	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003510	Severe short stature	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003502	Mild short stature	3	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008848	Moderately short stature	3	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003510	Severe short stature	3	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003502	Mild short stature	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008848	Moderately short stature	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003510	Severe short stature	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003502	Mild short stature	3	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008848	Moderately short stature	3	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003510	Severe short stature	3	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003502	Mild short stature	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008848	Moderately short stature	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003510	Severe short stature	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003502	Mild short stature	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008848	Moderately short stature	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003510	Severe short stature	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003502	Mild short stature	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008848	Moderately short stature	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0003510	Severe short stature	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008905	Rhizomelia	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008845	Mesomelic short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0008905	Rhizomelia	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008845	Mesomelic short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0008905	Rhizomelia	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008845	Mesomelic short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0008905	Rhizomelia	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008845	Mesomelic short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0008905	Rhizomelia	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008845	Mesomelic short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0008905	Rhizomelia	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008845	Mesomelic short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0008905	Rhizomelia	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008845	Mesomelic short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0008905	Rhizomelia	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008845	Mesomelic short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0008905	Rhizomelia	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008845	Mesomelic short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0008905	Rhizomelia	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008845	Mesomelic short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0008905	Rhizomelia	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008845	Mesomelic short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0008905	Rhizomelia	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008845	Mesomelic short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0008905	Rhizomelia	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008845	Mesomelic short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0008905	Rhizomelia	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008845	Mesomelic short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0008905	Rhizomelia	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008845	Mesomelic short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0008905	Rhizomelia	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008845	Mesomelic short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0008905	Rhizomelia	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008845	Mesomelic short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0008905	Rhizomelia	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008845	Mesomelic short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0008905	Rhizomelia	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008845	Mesomelic short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0008905	Rhizomelia	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008845	Mesomelic short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0008905	Rhizomelia	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008845	Mesomelic short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0008905	Rhizomelia	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008845	Mesomelic short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0008905	Rhizomelia	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008845	Mesomelic short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0008905	Rhizomelia	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008845	Mesomelic short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0008905	Rhizomelia	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008845	Mesomelic short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0008905	Rhizomelia	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008845	Mesomelic short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0008905	Rhizomelia	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008845	Mesomelic short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0008905	Rhizomelia	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008845	Mesomelic short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0008905	Rhizomelia	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008845	Mesomelic short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0008905	Rhizomelia	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008845	Mesomelic short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0008905	Rhizomelia	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008845	Mesomelic short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0008905	Rhizomelia	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008845	Mesomelic short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0008905	Rhizomelia	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008845	Mesomelic short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0008905	Rhizomelia	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008845	Mesomelic short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0008905	Rhizomelia	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008845	Mesomelic short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0008905	Rhizomelia	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008845	Mesomelic short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0008905	Rhizomelia	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008845	Mesomelic short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0008905	Rhizomelia	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008845	Mesomelic short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0008905	Rhizomelia	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008845	Mesomelic short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0008905	Rhizomelia	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008845	Mesomelic short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0008905	Rhizomelia	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008845	Mesomelic short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0008905	Rhizomelia	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008845	Mesomelic short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0008905	Rhizomelia	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008845	Mesomelic short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0008905	Rhizomelia	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008845	Mesomelic short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0008905	Rhizomelia	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008845	Mesomelic short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0008905	Rhizomelia	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008845	Mesomelic short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0008905	Rhizomelia	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008845	Mesomelic short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0008905	Rhizomelia	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008845	Mesomelic short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0008905	Rhizomelia	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008845	Mesomelic short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0008905	Rhizomelia	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008845	Mesomelic short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0008905	Rhizomelia	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008845	Mesomelic short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0008905	Rhizomelia	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008845	Mesomelic short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0008905	Rhizomelia	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008845	Mesomelic short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0008905	Rhizomelia	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008845	Mesomelic short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0008905	Rhizomelia	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008845	Mesomelic short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0008905	Rhizomelia	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008845	Mesomelic short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0008905	Rhizomelia	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008845	Mesomelic short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0008905	Rhizomelia	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008845	Mesomelic short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0008905	Rhizomelia	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008845	Mesomelic short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0008905	Rhizomelia	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008845	Mesomelic short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0008905	Rhizomelia	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008845	Mesomelic short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0008905	Rhizomelia	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008845	Mesomelic short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0008905	Rhizomelia	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008845	Mesomelic short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0008905	Rhizomelia	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008845	Mesomelic short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0008905	Rhizomelia	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008845	Mesomelic short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0008905	Rhizomelia	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008845	Mesomelic short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0008905	Rhizomelia	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008845	Mesomelic short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0008905	Rhizomelia	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008845	Mesomelic short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0008905	Rhizomelia	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008845	Mesomelic short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0008905	Rhizomelia	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008845	Mesomelic short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0008905	Rhizomelia	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008845	Mesomelic short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0008905	Rhizomelia	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008845	Mesomelic short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0008905	Rhizomelia	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008845	Mesomelic short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0008905	Rhizomelia	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008845	Mesomelic short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0008905	Rhizomelia	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008845	Mesomelic short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0008905	Rhizomelia	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008845	Mesomelic short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0008905	Rhizomelia	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008845	Mesomelic short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0008905	Rhizomelia	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008845	Mesomelic short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0008905	Rhizomelia	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008845	Mesomelic short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0008905	Rhizomelia	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008845	Mesomelic short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0008905	Rhizomelia	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008845	Mesomelic short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0008905	Rhizomelia	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008845	Mesomelic short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0008905	Rhizomelia	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008845	Mesomelic short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0008905	Rhizomelia	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008845	Mesomelic short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0008905	Rhizomelia	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008845	Mesomelic short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0008905	Rhizomelia	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008845	Mesomelic short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0008905	Rhizomelia	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008845	Mesomelic short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0008905	Rhizomelia	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008845	Mesomelic short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0008905	Rhizomelia	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008845	Mesomelic short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0008905	Rhizomelia	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008845	Mesomelic short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0008905	Rhizomelia	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008845	Mesomelic short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0008905	Rhizomelia	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008845	Mesomelic short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0008905	Rhizomelia	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008845	Mesomelic short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0008905	Rhizomelia	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008845	Mesomelic short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0008905	Rhizomelia	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008845	Mesomelic short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0008905	Rhizomelia	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008845	Mesomelic short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0008905	Rhizomelia	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008845	Mesomelic short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0008905	Rhizomelia	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008845	Mesomelic short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0008905	Rhizomelia	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008845	Mesomelic short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0008905	Rhizomelia	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008845	Mesomelic short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0008905	Rhizomelia	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008845	Mesomelic short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0008905	Rhizomelia	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008845	Mesomelic short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0008905	Rhizomelia	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008845	Mesomelic short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0008905	Rhizomelia	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008845	Mesomelic short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0008905	Rhizomelia	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008845	Mesomelic short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0008905	Rhizomelia	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008845	Mesomelic short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0008905	Rhizomelia	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008845	Mesomelic short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0008905	Rhizomelia	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008845	Mesomelic short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0008905	Rhizomelia	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008845	Mesomelic short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0008905	Rhizomelia	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008845	Mesomelic short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0008905	Rhizomelia	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008845	Mesomelic short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0008905	Rhizomelia	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008845	Mesomelic short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0008905	Rhizomelia	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008845	Mesomelic short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0008905	Rhizomelia	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008845	Mesomelic short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0008905	Rhizomelia	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008845	Mesomelic short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0008905	Rhizomelia	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008845	Mesomelic short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0008905	Rhizomelia	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008845	Mesomelic short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0008905	Rhizomelia	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008845	Mesomelic short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0008905	Rhizomelia	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008845	Mesomelic short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0008905	Rhizomelia	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008845	Mesomelic short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0008905	Rhizomelia	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008845	Mesomelic short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0008905	Rhizomelia	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008845	Mesomelic short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0008905	Rhizomelia	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008845	Mesomelic short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0008905	Rhizomelia	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008845	Mesomelic short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0008905	Rhizomelia	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008845	Mesomelic short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0008905	Rhizomelia	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008845	Mesomelic short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0008905	Rhizomelia	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008845	Mesomelic short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0008905	Rhizomelia	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008845	Mesomelic short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0008905	Rhizomelia	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008845	Mesomelic short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0008905	Rhizomelia	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008845	Mesomelic short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0008905	Rhizomelia	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008845	Mesomelic short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0008905	Rhizomelia	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008845	Mesomelic short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0008905	Rhizomelia	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008845	Mesomelic short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0008905	Rhizomelia	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008845	Mesomelic short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0008905	Rhizomelia	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0008905	Rhizomelia	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0008905	Rhizomelia	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0008905	Rhizomelia	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0008905	Rhizomelia	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0008905	Rhizomelia	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0008905	Rhizomelia	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0008905	Rhizomelia	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0008905	Rhizomelia	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008845	Mesomelic short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0008905	Rhizomelia	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008845	Mesomelic short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0008905	Rhizomelia	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008845	Mesomelic short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0008905	Rhizomelia	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008845	Mesomelic short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0008905	Rhizomelia	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008845	Mesomelic short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0008905	Rhizomelia	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008845	Mesomelic short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0008905	Rhizomelia	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008845	Mesomelic short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0008905	Rhizomelia	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008845	Mesomelic short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0008905	Rhizomelia	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008845	Mesomelic short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0008905	Rhizomelia	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008845	Mesomelic short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0008905	Rhizomelia	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008845	Mesomelic short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0008905	Rhizomelia	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008845	Mesomelic short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0008905	Rhizomelia	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008845	Mesomelic short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0008905	Rhizomelia	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008845	Mesomelic short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0008905	Rhizomelia	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008845	Mesomelic short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0008905	Rhizomelia	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008845	Mesomelic short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0008905	Rhizomelia	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008845	Mesomelic short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0008905	Rhizomelia	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008845	Mesomelic short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0008905	Rhizomelia	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008845	Mesomelic short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0008905	Rhizomelia	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008845	Mesomelic short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0008905	Rhizomelia	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008845	Mesomelic short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0008905	Rhizomelia	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008845	Mesomelic short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0008905	Rhizomelia	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008845	Mesomelic short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0008905	Rhizomelia	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008845	Mesomelic short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0008905	Rhizomelia	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008845	Mesomelic short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0008905	Rhizomelia	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008845	Mesomelic short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0008905	Rhizomelia	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008845	Mesomelic short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0008905	Rhizomelia	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008845	Mesomelic short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0008905	Rhizomelia	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008845	Mesomelic short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0008905	Rhizomelia	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008845	Mesomelic short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0008905	Rhizomelia	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008845	Mesomelic short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0008905	Rhizomelia	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008845	Mesomelic short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	AHCY CL E G H	191	88618				ORPHA	1	255	343	180960
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	330	430	603741
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	263	13743	607206
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	142	21014	606410
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	430	866	605239
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	1925	886	300032
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	AVP CL E G H	551	30925				ORPHA	1	102	894	192340
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CAMKMT CL E G H	79823	163693				ORPHA	1	53	26276	609559
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	206	2665	125240
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CLCN7 CL E G H	1186	667				ORPHA	1	1009	2025	602727
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	97	16999	608757
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	COG4 CL E G H	25839	263501				ORPHA	1	339	18620	606976
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	3777	2214	120120
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CTNS CL E G H	1497	411629				ORPHA	1	778	2518	606272
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	215	2873	613213
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	538	2592	124080
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	538	2592	124080
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	412	2594	107910
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	181	2867	126064
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	210	3013	613326
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	581	3048	125670
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	94	32698	612772
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	EIF2S3 CL E G H	1968	85282				ORPHA	1	208	3267	300161
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	297	14415	605512
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ELP1 CL E G H	8518	1764				ORPHA	1	1752	5959	603722
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	633	3583	300515
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FOXG1 CL E G H	2290	261144				ORPHA	1	725	3811	164874
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	363	3974	606806
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	264	24861	611045
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	233	4289	300474
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	644	4392	139320
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	1048	4689	600179
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	104	4909	603825
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HLCS CL E G H	3141	79242				ORPHA	1	885	4976	609018
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	177	5013	141250
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	115	5209	614232
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	87	6005	605384
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	88	21071	612025
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	1401	30497	611254
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KRAS CL E G H	3845	3339				ORPHA	1	480	6407	190070
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KRT14 CL E G H	3861	89838				ORPHA	1	200	6416	148066
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	200	6416	148066
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	303	6442	148040
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LIG4 CL E G H	3981	99812				ORPHA	1	626	6601	601837
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LIPA CL E G H	3988	75233				ORPHA	1	561	6617	613497
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	1814	6636	150330
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	931	14450	605519
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	1840	1742	606453
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	422	6819	604860
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MMUT CL E G H	4594	289916				ORPHA	1	896	7526	609058
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	593	7190	603707
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	305	7193	603708
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	153	16002	609188
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	1363	7603	606540
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	990	29433	300524
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	257	7782	600492
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NHEJ1 CL E G H	79840	169079				ORPHA	1	223	25737	611290
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	196	14377	606470
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	543	2488	600584
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	742	14374	606636
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	917	16400	606416
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	815	7905	607100
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	1542	19104	607215
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	1389	7908	602716
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	1020	2567	300170
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	538	8574	601545
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PAH CL E G H	5053	79254				ORPHA	1	1446	8582	612349
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	805	8620	607108
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	694	8923	606879
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	596	8926	300798
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	40	28213	610662
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	761	23166	610316
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PPM1B CL E G H	5495	163693				ORPHA	1	45	9276	603770
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PREPL CL E G H	9581	163693				ORPHA	1	708	30228	609557
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	358	9817	179617
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	324	9891	604124
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	482	15864	610924
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RECQL4 CL E G H	9401	221016				ORPHA	1	4259	9949	603780
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	223	13429	300379
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	250	10360	603634
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	138	10383	603632
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	140	10535	607690
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	140	10535	607690
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	524	29242	613293
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	294	10906	601295
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	655	10983	603859
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	482	3018	126650
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC3A1 CL E G H	6519	163693				ORPHA	1	429	11025	104614
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	300	11030	603345
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	177	11040	601843
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	122	20318	608488
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SNX10 CL E G H	29887	667				ORPHA	1	147	14974	614780
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	246	11191	600898
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	198	11257	182125
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	303	11449	611224
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	360	11573	613018
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1		11577	300394
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TCIRG1 CL E G H	10312	667				ORPHA	1	1157	11647	604592
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	62	11796	190120
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1		27962	612374
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	928	28396	609884
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TNFSF11 CL E G H	8600	667				ORPHA	1	246	11926	602642
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TSPYL1 CL E G H	7259	168593				ORPHA	1	72	12382	604714
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	72	12382	604714
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	UBE3B CL E G H	89910	2707				ORPHA	1	316	13478	608047
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	33	26941	610554
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	VPS11 CL E G H	55823	466934				ORPHA	1	228	14583	608549
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	WNT4 CL E G H	54361	139466				ORPHA	1	73	12783	603490
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	697	12829	600375
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	XRCC4 CL E G H	7518	99812				ORPHA	1	129	12831	194363
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	185	12851	605066
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	334	21143	614064
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001510	HP:0001510	Growth delay	0	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0001510	Growth delay	0	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0001510	Growth delay	0	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0001510	Growth delay	0	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0001510	Growth delay	0	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0001510	Growth delay	0	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0001510	Growth delay	0	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0001510	Growth delay	0	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0001510	Growth delay	0	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0001510	Growth delay	0	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0001510	Growth delay	0	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0001510	Growth delay	0	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0001510	Growth delay	0	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0001510	Growth delay	0	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0001510	Growth delay	0	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0001510	Growth delay	0	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0001510	Growth delay	0	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0001510	Growth delay	0	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0001510	Growth delay	0	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0001510	Growth delay	0	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0001510	Growth delay	0	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0001510	Growth delay	0	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0001510	Growth delay	0	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0001510	Growth delay	0	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0001510	Growth delay	0	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0001510	Growth delay	0	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0001510	Growth delay	0	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0001510	Growth delay	0	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0001510	Growth delay	0	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0001510	Growth delay	0	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0001510	Growth delay	0	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0001510	Growth delay	0	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0001510	Growth delay	0	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0000823	Delayed puberty	1	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0004322	Short stature	1	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008897	Postnatal growth retardation	1	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0000823	Delayed puberty	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0004322	Short stature	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008897	Postnatal growth retardation	1	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0000823	Delayed puberty	1	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0004322	Short stature	1	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0001511	Intrauterine growth retardation	1	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008897	Postnatal growth retardation	1	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0000823	Delayed puberty	1	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0004322	Short stature	1	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0001511	Intrauterine growth retardation	1	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008897	Postnatal growth retardation	1	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0000823	Delayed puberty	1	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0004322	Short stature	1	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0001511	Intrauterine growth retardation	1	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008897	Postnatal growth retardation	1	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0000823	Delayed puberty	1	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0004322	Short stature	1	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0001511	Intrauterine growth retardation	1	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008897	Postnatal growth retardation	1	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0000823	Delayed puberty	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0004322	Short stature	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008897	Postnatal growth retardation	1	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0000823	Delayed puberty	1	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0004322	Short stature	1	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008897	Postnatal growth retardation	1	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0000823	Delayed puberty	1	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0004322	Short stature	1	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008897	Postnatal growth retardation	1	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0000823	Delayed puberty	1	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0004322	Short stature	1	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0001511	Intrauterine growth retardation	1	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008897	Postnatal growth retardation	1	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0000823	Delayed puberty	1	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0004322	Short stature	1	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0001511	Intrauterine growth retardation	1	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008897	Postnatal growth retardation	1	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0000823	Delayed puberty	1	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0004322	Short stature	1	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0001511	Intrauterine growth retardation	1	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008897	Postnatal growth retardation	1	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0000823	Delayed puberty	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0004322	Short stature	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008897	Postnatal growth retardation	1	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0000823	Delayed puberty	1	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0004322	Short stature	1	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0001511	Intrauterine growth retardation	1	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008897	Postnatal growth retardation	1	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0000823	Delayed puberty	1	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0004322	Short stature	1	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008897	Postnatal growth retardation	1	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0000823	Delayed puberty	1	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0004322	Short stature	1	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008897	Postnatal growth retardation	1	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0000823	Delayed puberty	1	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0004322	Short stature	1	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0001511	Intrauterine growth retardation	1	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008897	Postnatal growth retardation	1	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0000823	Delayed puberty	1	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0004322	Short stature	1	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0001511	Intrauterine growth retardation	1	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008897	Postnatal growth retardation	1	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0000823	Delayed puberty	1	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0004322	Short stature	1	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008897	Postnatal growth retardation	1	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0000823	Delayed puberty	1	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0004322	Short stature	1	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008897	Postnatal growth retardation	1	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0000823	Delayed puberty	1	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0004322	Short stature	1	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0001511	Intrauterine growth retardation	1	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008897	Postnatal growth retardation	1	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0000823	Delayed puberty	1	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0004322	Short stature	1	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008897	Postnatal growth retardation	1	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0000823	Delayed puberty	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0004322	Short stature	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008897	Postnatal growth retardation	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0000823	Delayed puberty	1	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0004322	Short stature	1	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0001511	Intrauterine growth retardation	1	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008897	Postnatal growth retardation	1	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0000823	Delayed puberty	1	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0004322	Short stature	1	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0001511	Intrauterine growth retardation	1	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008897	Postnatal growth retardation	1	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0000823	Delayed puberty	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0004322	Short stature	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008897	Postnatal growth retardation	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0000823	Delayed puberty	1	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0004322	Short stature	1	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008897	Postnatal growth retardation	1	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0000823	Delayed puberty	1	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0004322	Short stature	1	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0001511	Intrauterine growth retardation	1	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008897	Postnatal growth retardation	1	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0000823	Delayed puberty	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0004322	Short stature	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0001511	Intrauterine growth retardation	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008897	Postnatal growth retardation	1	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0000823	Delayed puberty	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0004322	Short stature	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0001511	Intrauterine growth retardation	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008897	Postnatal growth retardation	1	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0000823	Delayed puberty	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0004322	Short stature	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008897	Postnatal growth retardation	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0000823	Delayed puberty	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0004322	Short stature	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008897	Postnatal growth retardation	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0000823	Delayed puberty	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0004322	Short stature	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0001511	Intrauterine growth retardation	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008897	Postnatal growth retardation	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0000823	Delayed puberty	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0004322	Short stature	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0031087	Absent pubertal growth spurt	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0001511	Intrauterine growth retardation	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008897	Postnatal growth retardation	1	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0025453	Delayed adrenarche	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0012569	Delayed menarche	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0025515	Delayed thelarche	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008929	Asymmetric short stature	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003498	Disproportionate short stature	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0000839	Pituitary dwarfism	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003508	Proportionate short stature	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0025453	Delayed adrenarche	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0012569	Delayed menarche	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0025515	Delayed thelarche	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008929	Asymmetric short stature	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003498	Disproportionate short stature	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0000839	Pituitary dwarfism	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003508	Proportionate short stature	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0025453	Delayed adrenarche	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0012569	Delayed menarche	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0025515	Delayed thelarche	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008929	Asymmetric short stature	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003498	Disproportionate short stature	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0000839	Pituitary dwarfism	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003508	Proportionate short stature	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0025453	Delayed adrenarche	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0012569	Delayed menarche	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0025515	Delayed thelarche	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008929	Asymmetric short stature	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003498	Disproportionate short stature	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0000839	Pituitary dwarfism	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003508	Proportionate short stature	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0025453	Delayed adrenarche	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0012569	Delayed menarche	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0025515	Delayed thelarche	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008929	Asymmetric short stature	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003498	Disproportionate short stature	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0000839	Pituitary dwarfism	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003508	Proportionate short stature	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0025453	Delayed adrenarche	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0012569	Delayed menarche	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0025515	Delayed thelarche	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008929	Asymmetric short stature	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003498	Disproportionate short stature	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0000839	Pituitary dwarfism	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003508	Proportionate short stature	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0025453	Delayed adrenarche	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0012569	Delayed menarche	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0025515	Delayed thelarche	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008929	Asymmetric short stature	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003498	Disproportionate short stature	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0000839	Pituitary dwarfism	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003508	Proportionate short stature	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0025453	Delayed adrenarche	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0012569	Delayed menarche	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0025515	Delayed thelarche	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008929	Asymmetric short stature	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003498	Disproportionate short stature	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0000839	Pituitary dwarfism	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003508	Proportionate short stature	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0025453	Delayed adrenarche	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0012569	Delayed menarche	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0025515	Delayed thelarche	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008929	Asymmetric short stature	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003498	Disproportionate short stature	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0000839	Pituitary dwarfism	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003508	Proportionate short stature	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0025453	Delayed adrenarche	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0012569	Delayed menarche	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0025515	Delayed thelarche	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008929	Asymmetric short stature	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003498	Disproportionate short stature	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0000839	Pituitary dwarfism	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003508	Proportionate short stature	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0025453	Delayed adrenarche	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0012569	Delayed menarche	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0025515	Delayed thelarche	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008929	Asymmetric short stature	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003498	Disproportionate short stature	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0000839	Pituitary dwarfism	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003508	Proportionate short stature	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0025453	Delayed adrenarche	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0012569	Delayed menarche	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0025515	Delayed thelarche	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008929	Asymmetric short stature	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003498	Disproportionate short stature	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0000839	Pituitary dwarfism	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003508	Proportionate short stature	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0025453	Delayed adrenarche	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0012569	Delayed menarche	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0025515	Delayed thelarche	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008929	Asymmetric short stature	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003498	Disproportionate short stature	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0000839	Pituitary dwarfism	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003508	Proportionate short stature	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0025453	Delayed adrenarche	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0012569	Delayed menarche	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0025515	Delayed thelarche	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008929	Asymmetric short stature	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003498	Disproportionate short stature	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0000839	Pituitary dwarfism	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003508	Proportionate short stature	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0025453	Delayed adrenarche	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0012569	Delayed menarche	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0025515	Delayed thelarche	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008929	Asymmetric short stature	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003498	Disproportionate short stature	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0000839	Pituitary dwarfism	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003508	Proportionate short stature	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0025453	Delayed adrenarche	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0012569	Delayed menarche	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0025515	Delayed thelarche	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008929	Asymmetric short stature	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003498	Disproportionate short stature	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0000839	Pituitary dwarfism	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003508	Proportionate short stature	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0025453	Delayed adrenarche	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0012569	Delayed menarche	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0025515	Delayed thelarche	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008929	Asymmetric short stature	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003498	Disproportionate short stature	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0000839	Pituitary dwarfism	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003508	Proportionate short stature	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0025453	Delayed adrenarche	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0012569	Delayed menarche	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0025515	Delayed thelarche	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008929	Asymmetric short stature	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003498	Disproportionate short stature	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0000839	Pituitary dwarfism	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003508	Proportionate short stature	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0025453	Delayed adrenarche	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0012569	Delayed menarche	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0025515	Delayed thelarche	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008929	Asymmetric short stature	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003498	Disproportionate short stature	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0000839	Pituitary dwarfism	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003508	Proportionate short stature	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0025453	Delayed adrenarche	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0012569	Delayed menarche	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0025515	Delayed thelarche	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008929	Asymmetric short stature	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003498	Disproportionate short stature	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0000839	Pituitary dwarfism	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003508	Proportionate short stature	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0025453	Delayed adrenarche	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0012569	Delayed menarche	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0025515	Delayed thelarche	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008929	Asymmetric short stature	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003498	Disproportionate short stature	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0000839	Pituitary dwarfism	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003508	Proportionate short stature	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0025453	Delayed adrenarche	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0012569	Delayed menarche	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0025515	Delayed thelarche	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008929	Asymmetric short stature	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003498	Disproportionate short stature	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0000839	Pituitary dwarfism	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003508	Proportionate short stature	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0025453	Delayed adrenarche	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0012569	Delayed menarche	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0025515	Delayed thelarche	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008929	Asymmetric short stature	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003498	Disproportionate short stature	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0000839	Pituitary dwarfism	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003508	Proportionate short stature	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0025453	Delayed adrenarche	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0012569	Delayed menarche	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0025515	Delayed thelarche	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008929	Asymmetric short stature	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003498	Disproportionate short stature	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0000839	Pituitary dwarfism	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003508	Proportionate short stature	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0025453	Delayed adrenarche	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0012569	Delayed menarche	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0025515	Delayed thelarche	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008929	Asymmetric short stature	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003498	Disproportionate short stature	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0000839	Pituitary dwarfism	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003508	Proportionate short stature	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0025453	Delayed adrenarche	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0012569	Delayed menarche	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0025515	Delayed thelarche	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008929	Asymmetric short stature	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003498	Disproportionate short stature	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0000839	Pituitary dwarfism	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003508	Proportionate short stature	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0025453	Delayed adrenarche	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0012569	Delayed menarche	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0025515	Delayed thelarche	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008929	Asymmetric short stature	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003498	Disproportionate short stature	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0000839	Pituitary dwarfism	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003508	Proportionate short stature	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0025453	Delayed adrenarche	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0012569	Delayed menarche	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0025515	Delayed thelarche	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008929	Asymmetric short stature	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003498	Disproportionate short stature	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0000839	Pituitary dwarfism	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003508	Proportionate short stature	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0025453	Delayed adrenarche	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0012569	Delayed menarche	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0025515	Delayed thelarche	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008929	Asymmetric short stature	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003498	Disproportionate short stature	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0000839	Pituitary dwarfism	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003508	Proportionate short stature	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0025453	Delayed adrenarche	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0012569	Delayed menarche	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0025515	Delayed thelarche	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008929	Asymmetric short stature	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003498	Disproportionate short stature	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0000839	Pituitary dwarfism	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003508	Proportionate short stature	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0025453	Delayed adrenarche	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0012569	Delayed menarche	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0025515	Delayed thelarche	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008929	Asymmetric short stature	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003498	Disproportionate short stature	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0000839	Pituitary dwarfism	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003508	Proportionate short stature	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0025453	Delayed adrenarche	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0012569	Delayed menarche	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0025515	Delayed thelarche	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008929	Asymmetric short stature	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003498	Disproportionate short stature	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0000839	Pituitary dwarfism	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003508	Proportionate short stature	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0025453	Delayed adrenarche	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0012569	Delayed menarche	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0025515	Delayed thelarche	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008929	Asymmetric short stature	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003498	Disproportionate short stature	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0000839	Pituitary dwarfism	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003508	Proportionate short stature	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0025453	Delayed adrenarche	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0012569	Delayed menarche	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0025515	Delayed thelarche	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008929	Asymmetric short stature	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003561	Birth length less than 3rd percentile	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003498	Disproportionate short stature	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0000839	Pituitary dwarfism	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003508	Proportionate short stature	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008883	Mild intrauterine growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0011408	Moderate intrauterine growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008846	Severe intrauterine growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0001530	Mild postnatal growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008855	Moderate postnatal growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008850	Severe postnatal growth retardation	2	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003502	Mild short stature	3	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008848	Moderately short stature	3	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003510	Severe short stature	3	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003502	Mild short stature	3	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008848	Moderately short stature	3	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003510	Severe short stature	3	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003502	Mild short stature	3	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008848	Moderately short stature	3	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003510	Severe short stature	3	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003502	Mild short stature	3	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008848	Moderately short stature	3	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003510	Severe short stature	3	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003502	Mild short stature	3	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008848	Moderately short stature	3	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003510	Severe short stature	3	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003502	Mild short stature	3	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008848	Moderately short stature	3	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003510	Severe short stature	3	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003502	Mild short stature	3	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008848	Moderately short stature	3	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003510	Severe short stature	3	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003502	Mild short stature	3	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008848	Moderately short stature	3	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003510	Severe short stature	3	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003502	Mild short stature	3	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008848	Moderately short stature	3	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003510	Severe short stature	3	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003502	Mild short stature	3	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008848	Moderately short stature	3	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003510	Severe short stature	3	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003502	Mild short stature	3	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008848	Moderately short stature	3	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003510	Severe short stature	3	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003502	Mild short stature	3	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008848	Moderately short stature	3	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003510	Severe short stature	3	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003502	Mild short stature	3	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008848	Moderately short stature	3	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003510	Severe short stature	3	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003502	Mild short stature	3	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008848	Moderately short stature	3	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003510	Severe short stature	3	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003502	Mild short stature	3	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008848	Moderately short stature	3	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003510	Severe short stature	3	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003502	Mild short stature	3	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008848	Moderately short stature	3	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003510	Severe short stature	3	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003502	Mild short stature	3	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008848	Moderately short stature	3	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003510	Severe short stature	3	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003502	Mild short stature	3	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008848	Moderately short stature	3	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003510	Severe short stature	3	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003502	Mild short stature	3	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008848	Moderately short stature	3	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003510	Severe short stature	3	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003502	Mild short stature	3	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008848	Moderately short stature	3	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003510	Severe short stature	3	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003502	Mild short stature	3	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008848	Moderately short stature	3	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003510	Severe short stature	3	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003502	Mild short stature	3	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008848	Moderately short stature	3	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003510	Severe short stature	3	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003502	Mild short stature	3	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008848	Moderately short stature	3	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003510	Severe short stature	3	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003502	Mild short stature	3	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008848	Moderately short stature	3	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003510	Severe short stature	3	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003502	Mild short stature	3	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008848	Moderately short stature	3	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003510	Severe short stature	3	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003502	Mild short stature	3	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008848	Moderately short stature	3	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003510	Severe short stature	3	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003502	Mild short stature	3	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008848	Moderately short stature	3	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003510	Severe short stature	3	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003502	Mild short stature	3	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008848	Moderately short stature	3	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003510	Severe short stature	3	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003502	Mild short stature	3	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008848	Moderately short stature	3	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003510	Severe short stature	3	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003502	Mild short stature	3	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008848	Moderately short stature	3	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003510	Severe short stature	3	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003502	Mild short stature	3	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008848	Moderately short stature	3	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003510	Severe short stature	3	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003502	Mild short stature	3	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008848	Moderately short stature	3	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003510	Severe short stature	3	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003502	Mild short stature	3	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008848	Moderately short stature	3	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003510	Severe short stature	3	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0003521	Disproportionate short-trunk short stature	3	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008873	Disproportionate short-limb short stature	3	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003502	Mild short stature	3	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008848	Moderately short stature	3	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0003510	Severe short stature	3	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008905	Rhizomelia	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008845	Mesomelic short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0008905	Rhizomelia	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008845	Mesomelic short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0008905	Rhizomelia	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008845	Mesomelic short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0008905	Rhizomelia	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008845	Mesomelic short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0008905	Rhizomelia	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008845	Mesomelic short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0008905	Rhizomelia	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008845	Mesomelic short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0008905	Rhizomelia	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008845	Mesomelic short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0008905	Rhizomelia	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008845	Mesomelic short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0008905	Rhizomelia	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008845	Mesomelic short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0008905	Rhizomelia	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008845	Mesomelic short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0008905	Rhizomelia	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008845	Mesomelic short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0008905	Rhizomelia	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008845	Mesomelic short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0008905	Rhizomelia	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008845	Mesomelic short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0008905	Rhizomelia	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008845	Mesomelic short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0008905	Rhizomelia	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008845	Mesomelic short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0008905	Rhizomelia	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008845	Mesomelic short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0008905	Rhizomelia	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008845	Mesomelic short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0008905	Rhizomelia	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008845	Mesomelic short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0008905	Rhizomelia	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008845	Mesomelic short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0008905	Rhizomelia	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008845	Mesomelic short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0008905	Rhizomelia	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008845	Mesomelic short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0008905	Rhizomelia	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008845	Mesomelic short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0008905	Rhizomelia	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008845	Mesomelic short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0008905	Rhizomelia	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008845	Mesomelic short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0008905	Rhizomelia	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008845	Mesomelic short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0008905	Rhizomelia	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008845	Mesomelic short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0008905	Rhizomelia	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008845	Mesomelic short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0008905	Rhizomelia	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008845	Mesomelic short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0008905	Rhizomelia	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008845	Mesomelic short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0008905	Rhizomelia	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008845	Mesomelic short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0008905	Rhizomelia	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008845	Mesomelic short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0008905	Rhizomelia	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008845	Mesomelic short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0008905	Rhizomelia	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008845	Mesomelic short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0008905	Rhizomelia	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008922	Childhood-onset short-trunk short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0011406	Infancy onset short-trunk short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0011404	Lethal short-trunk short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008857	Neonatal short-trunk short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0011405	Childhood onset short-limb short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008909	Lethal short-limbed short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008845	Mesomelic short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008921	Neonatal short-limb short stature	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0008890	Severe short-limb dwarfism	4	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ATL1 CL E G H	51062	100984				ORPHA	0	517	11231	606439
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ATP6V1B2 CL E G H	526	3473	Meningoencephalocele			ORPHA	0	167	854	606939
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	BTD CL E G H	686	79241				ORPHA	0	598	1122	609019
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	COL17A1 CL E G H	1308	79402				ORPHA	0	527	2194	113811
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	COL7A1 CL E G H	1294	79409				ORPHA	0	3777	2214	120120
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	EHMT1 CL E G H	79813	96147				ORPHA	0	1923	24650	607001
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ERCC5 CL E G H	2073	278780	Xeroderma pigmentosum, group G	278780	C0268141	OMIM	0	491	3437	133530
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FANCG CL E G H	2189	614082	Fanconi anemia, complementation group G	614082	C3469527	OMIM	0	790	3588	602956
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FAT4 CL E G H	79633	616006	Hennekam lymphangiectasia-lymphedema syndrome 2	616006	C4014939	OMIM	0	2194	23109	612411
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	FOXC1 CL E G H	2296	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	557	3800	601090
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	622	5173	190020
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	ITGB4 CL E G H	3691	79402				ORPHA	0	698	6158	147557
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KCNH1 CL E G H	3756	3473	Meningoencephalocele			ORPHA	0	566	6250	603305
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	480	6407	190070
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LAMA3 CL E G H	3909	79402				ORPHA	0	1379	6483	600805
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LAMB3 CL E G H	3914	79402				ORPHA	0	1020	6490	150310
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	LAMC2 CL E G H	3918	79402				ORPHA	0	909	6493	150292
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	MVK CL E G H	4598	343				ORPHA	0	570	7530	251170
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NLRC4 CL E G H	58484	1451				ORPHA	0	643	16412	606831
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NLRP3 CL E G H	114548	1451				ORPHA	0	917	16400	606416
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	0	281	7989	164790
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PAX6 CL E G H	5080	137902				ORPHA	0	805	8620	607108
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	0	169	23719	611801
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	PITX2 CL E G H	5308	782	Arthrogryposis IUGR thoracic dystrophy			ORPHA	0	221	9005	601542
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	RFWD3 CL E G H	55159	617784	FANCONI ANEMIA, COMPLEMENTATION GROUP W	617784	C4521564	OMIM	0	326	25539	614151
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SOX2 CL E G H	6657	77298				ORPHA	0	211	11195	184429
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	SPR CL E G H	6697	70594				ORPHA	0	198	11257	182125
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	STEAP3 CL E G H	55240	300298				ORPHA	0	94	24592	609671
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	STEAP3 CL E G H	55240	615234	Hypochromic microcytic anemia with iron overload 2	615234	C3808920	OMIM	0	94	24592	609671
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	0	620	17341	612907
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	0	104	20670	607556
HP:0001510	HP:0005026	Mesomelic/rhizomelic limb shortening	5	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0005069	Rhizo-meso-acromelic limb shortening	5	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0004991	Rhizomelic arm shortening	5	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131
HP:0001510	HP:0012106	Rhizomelic leg shortening	5	WWOX CL E G H	51741	614322	Spinocerebellar ataxia, autosomal recessive 12	614322	C3280452	OMIM	0	1102	12799	605131