Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	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	8	138	68	603214
HP:0001510	HP:0001510	Growth delay	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	7	134	84	200350
HP:0001510	HP:0001510	Growth delay	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001510	HP:0001510	Growth delay	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001510	HP:0001510	Growth delay	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001510	HP:0001510	Growth delay	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001510	HP:0001510	Growth delay	0	AHCY CL E G H	191	88618				ORPHA	1	15	94	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	64	156	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	22	138	13743	607206
HP:0001510	HP:0001510	Growth delay	0	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	24	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	2	36	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	93	173	866	605239
HP:0001510	HP:0001510	Growth delay	0	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	886	300032
HP:0001510	HP:0001510	Growth delay	0	AVP CL E G H	551	30925				ORPHA	1	83	69	894	192340
HP:0001510	HP:0001510	Growth delay	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0001510	HP:0001510	Growth delay	0	CAMKMT CL E G H	79823	163693				ORPHA	1		32	26276	609559
HP:0001510	HP:0001510	Growth delay	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0001510	HP:0001510	Growth delay	0	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	32	2665	125240
HP:0001510	HP:0001510	Growth delay	0	CLCN7 CL E G H	1186	667				ORPHA	1	100	268	2025	602727
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	0	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	32	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	25	217	30664	616254
HP:0001510	HP:0001510	Growth delay	0	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0001510	HP:0001510	Growth delay	0	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	828	691	2214	120120
HP:0001510	HP:0001510	Growth delay	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0001510	HP:0001510	Growth delay	0	CTNS CL E G H	1497	411629				ORPHA	1	160	418	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	75	85	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	55	221	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	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	0	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	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	82	93	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	6	46	20580	608713
HP:0001510	HP:0001510	Growth delay	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	180	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	64	122	2858	601465
HP:0001510	HP:0001510	Growth delay	0	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	20	125	2867	126064
HP:0001510	HP:0001510	Growth delay	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001510	HP:0001510	Growth delay	0	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	30	108	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	35	89	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	9	1017	1090	113810
HP:0001510	HP:0001510	Growth delay	0	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	18	54	32698	612772
HP:0001510	HP:0001510	Growth delay	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	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	21	238	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	17	122	14415	605512
HP:0001510	HP:0001510	Growth delay	0	ELP1 CL E G H	8518	1764				ORPHA	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0001510	HP:0001510	Growth delay	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	19	140	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	21	352	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	4	40	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	24	261	21062	611592
HP:0001510	HP:0001510	Growth delay	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	317	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	48	434	13601	605654
HP:0001510	HP:0001510	Growth delay	0	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0001510	HP:0001510	Growth delay	0	FRMD4A CL E G H	55691	466688				ORPHA	1	2	53	25491	616305
HP:0001510	HP:0001510	Growth delay	0	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	15	203	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	40	119	24861	611045
HP:0001510	HP:0001510	Growth delay	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001510	HP:0001510	Growth delay	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0001510	HP:0001510	Growth delay	0	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	279	216	4392	139320
HP:0001510	HP:0001510	Growth delay	0	GNB1 CL E G H	2782	488613				ORPHA	1	24	184	4396	139380
HP:0001510	HP:0001510	Growth delay	0	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	243	388	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	26	94	4799	601609
HP:0001510	HP:0001510	Growth delay	0	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1		76	4909	603825
HP:0001510	HP:0001510	Growth delay	0	HLCS CL E G H	3141	79242				ORPHA	1	49	373	4976	609018
HP:0001510	HP:0001510	Growth delay	0	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	14	32	5013	141250
HP:0001510	HP:0001510	Growth delay	0	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	49	62	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	14	77	14348	606441
HP:0001510	HP:0001510	Growth delay	0	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	3	33	6005	605384
HP:0001510	HP:0001510	Growth delay	0	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	5	46	21071	612025
HP:0001510	HP:0001510	Growth delay	0	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	45	386	30497	611254
HP:0001510	HP:0001510	Growth delay	0	KRAS CL E G H	3845	3339				ORPHA	1	45	274	6407	190070
HP:0001510	HP:0001510	Growth delay	0	KRT14 CL E G H	3861	89838				ORPHA	1	118	135	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	118	135	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	155	223	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	8	179	16429	607031
HP:0001510	HP:0001510	Growth delay	0	LIG4 CL E G H	3981	99812				ORPHA	1	40	317	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	9	172	30922	610350
HP:0001510	HP:0001510	Growth delay	0	LIPA CL E G H	3988	75233				ORPHA	1	96	246	6617	613497
HP:0001510	HP:0001510	Growth delay	0	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	574	1152	6636	150330
HP:0001510	HP:0001510	Growth delay	0	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	16	509	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	68	631	1742	606453
HP:0001510	HP:0001510	Growth delay	0	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	7	149	6819	604860
HP:0001510	HP:0001510	Growth delay	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	393	6826	609458
HP:0001510	HP:0001510	Growth delay	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	122	6901	600521
HP:0001510	HP:0001510	Growth delay	0	MMUT CL E G H	4594	289916				ORPHA	1		440	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	35	181	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	16	118	7193	603708
HP:0001510	HP:0001510	Growth delay	0	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	19	50	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	9	84	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	7	57	33778	615345
HP:0001510	HP:0001510	Growth delay	0	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	81	419	7603	606540
HP:0001510	HP:0001510	Growth delay	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	296	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	7	84	7680	600853
HP:0001510	HP:0001510	Growth delay	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	69	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	41	468	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	8	56	7782	600492
HP:0001510	HP:0001510	Growth delay	0	NHEJ1 CL E G H	79840	169079				ORPHA	1	16	75	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	3	92	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	112	215	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	18	134	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	142	488	16400	606416
HP:0001510	HP:0001510	Growth delay	0	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	79	403	7905	607100
HP:0001510	HP:0001510	Growth delay	0	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	118	659	19104	607215
HP:0001510	HP:0001510	Growth delay	0	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	320	483	7908	602716
HP:0001510	HP:0001510	Growth delay	0	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	510	2567	300170
HP:0001510	HP:0001510	Growth delay	0	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	170	255	8574	601545
HP:0001510	HP:0001510	Growth delay	0	PAH CL E G H	5053	79254				ORPHA	1	980	920	8582	612349
HP:0001510	HP:0001510	Growth delay	0	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	571	496	8620	607108
HP:0001510	HP:0001510	Growth delay	0	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	51	143	8622	167415
HP:0001510	HP:0001510	Growth delay	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0001510	HP:0001510	Growth delay	0	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	23	145	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	114	358	8926	300798
HP:0001510	HP:0001510	Growth delay	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0001510	HP:0001510	Growth delay	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	2	14	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	21	449	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	2	73	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	2	23	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	16	167	23166	610316
HP:0001510	HP:0001510	Growth delay	0	PPM1B CL E G H	5495	163693				ORPHA	1	1	30	9276	603770
HP:0001510	HP:0001510	Growth delay	0	PREPL CL E G H	9581	163693				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	0	PREPL CL E G H	9581	163690				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	259	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	16	36	9817	179617
HP:0001510	HP:0001510	Growth delay	0	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	6	108	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	14	178	15864	610924
HP:0001510	HP:0001510	Growth delay	0	RECQL4 CL E G H	9401	221016				ORPHA	1	122	2028	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	5	161	13429	300379
HP:0001510	HP:0001510	Growth delay	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0001510	HP:0001510	Growth delay	0	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	77	100	10360	603634
HP:0001510	HP:0001510	Growth delay	0	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	5	52	10383	603632
HP:0001510	HP:0001510	Growth delay	0	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	0	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	20	266	29242	613293
HP:0001510	HP:0001510	Growth delay	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0001510	HP:0001510	Growth delay	0	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	9	160	10906	601295
HP:0001510	HP:0001510	Growth delay	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	192	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	115	229	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	89	150	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	40	223	20305	609826
HP:0001510	HP:0001510	Growth delay	0	SLC3A1 CL E G H	6519	163693				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	211	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	22	187	11030	603345
HP:0001510	HP:0001510	Growth delay	0	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	18	138	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	2	29	25763	613176
HP:0001510	HP:0001510	Growth delay	0	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	15	54	20318	608488
HP:0001510	HP:0001510	Growth delay	0	SNX10 CL E G H	29887	667				ORPHA	1	13	46	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	14	70	11191	600898
HP:0001510	HP:0001510	Growth delay	0	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	100	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	28	120	11449	611224
HP:0001510	HP:0001510	Growth delay	0	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	36	140	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	158	400	11577	300394
HP:0001510	HP:0001510	Growth delay	0	TBR1 CL E G H	10716	1617				ORPHA	1	18	78	11590	604616
HP:0001510	HP:0001510	Growth delay	0	TCIRG1 CL E G H	10312	667				ORPHA	1	137	289	11647	604592
HP:0001510	HP:0001510	Growth delay	0	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	14	34	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	15		27962	612374
HP:0001510	HP:0001510	Growth delay	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	221	14432	614423
HP:0001510	HP:0001510	Growth delay	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	0	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	0	TNFSF11 CL E G H	8600	667				ORPHA	1	16	117	11926	602642
HP:0001510	HP:0001510	Growth delay	0	TRHR CL E G H	7201	99832				ORPHA	1	7	49	12299	188545
HP:0001510	HP:0001510	Growth delay	0	TSPYL1 CL E G H	7259	168593				ORPHA	1	8	32	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	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	0	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	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	2	17	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	1	23	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	71	184	12679	601769
HP:0001510	HP:0001510	Growth delay	0	VPS11 CL E G H	55823	466934				ORPHA	1	3	54	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	393	714	12762	606201
HP:0001510	HP:0001510	Growth delay	0	WNT4 CL E G H	54361	139466				ORPHA	1	8	29	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	23	358	12829	600375
HP:0001510	HP:0001510	Growth delay	0	XRCC4 CL E G H	7518	99812				ORPHA	1	15	37	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	13	203	24249	610957
HP:0001510	HP:0001510	Growth delay	0	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	44	146	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	18	134	21143	614064
HP:0001510	HP:0001510	Growth delay	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	8	138	68	603214
HP:0001510	HP:0001510	Growth delay	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	7	134	84	200350
HP:0001510	HP:0001510	Growth delay	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001510	HP:0001510	Growth delay	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001510	HP:0001510	Growth delay	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001510	HP:0001510	Growth delay	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001510	HP:0001510	Growth delay	1	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0001510	HP:0001510	Growth delay	1	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	64	156	430	603741
HP:0001510	HP:0001510	Growth delay	1	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	22	138	13743	607206
HP:0001510	HP:0001510	Growth delay	1	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	24	21014	606410
HP:0001510	HP:0001510	Growth delay	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	2	36	559	603531
HP:0001510	HP:0001510	Growth delay	1	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	93	173	866	605239
HP:0001510	HP:0001510	Growth delay	1	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	886	300032
HP:0001510	HP:0001510	Growth delay	1	AVP CL E G H	551	30925				ORPHA	1	83	69	894	192340
HP:0001510	HP:0001510	Growth delay	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0001510	HP:0001510	Growth delay	1	CAMKMT CL E G H	79823	163693				ORPHA	1		32	26276	609559
HP:0001510	HP:0001510	Growth delay	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0001510	HP:0001510	Growth delay	1	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	32	2665	125240
HP:0001510	HP:0001510	Growth delay	1	CLCN7 CL E G H	1186	667				ORPHA	1	100	268	2025	602727
HP:0001510	HP:0001510	Growth delay	1	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	1	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	217	30664	616254
HP:0001510	HP:0001510	Growth delay	1	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0001510	HP:0001510	Growth delay	1	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	828	691	2214	120120
HP:0001510	HP:0001510	Growth delay	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0001510	HP:0001510	Growth delay	1	CTNS CL E G H	1497	411629				ORPHA	1	160	418	2518	606272
HP:0001510	HP:0001510	Growth delay	1	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	85	2873	613213
HP:0001510	HP:0001510	Growth delay	1	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	1	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	2594	107910
HP:0001510	HP:0001510	Growth delay	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	82	93	2606	609506
HP:0001510	HP:0001510	Growth delay	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	6	46	20580	608713
HP:0001510	HP:0001510	Growth delay	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	180	13681	603057
HP:0001510	HP:0001510	Growth delay	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001510	HP:0001510	Growth delay	1	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	20	125	2867	126064
HP:0001510	HP:0001510	Growth delay	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001510	HP:0001510	Growth delay	1	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	30	108	3013	613326
HP:0001510	HP:0001510	Growth delay	1	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	35	89	3048	125670
HP:0001510	HP:0001510	Growth delay	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	9	1017	1090	113810
HP:0001510	HP:0001510	Growth delay	1	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	18	54	32698	612772
HP:0001510	HP:0001510	Growth delay	1	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	3267	300161
HP:0001510	HP:0001510	Growth delay	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	21	238	14198	605367
HP:0001510	HP:0001510	Growth delay	1	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	17	122	14415	605512
HP:0001510	HP:0001510	Growth delay	1	ELP1 CL E G H	8518	1764				ORPHA	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0001510	HP:0001510	Growth delay	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	19	140	17944	606489
HP:0001510	HP:0001510	Growth delay	1	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	21	352	3583	300515
HP:0001510	HP:0001510	Growth delay	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	40	26222	616107
HP:0001510	HP:0001510	Growth delay	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	24	261	21062	611592
HP:0001510	HP:0001510	Growth delay	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	317	23109	612411
HP:0001510	HP:0001510	Growth delay	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	48	434	13601	605654
HP:0001510	HP:0001510	Growth delay	1	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0001510	HP:0001510	Growth delay	1	FRMD4A CL E G H	55691	466688				ORPHA	1	2	53	25491	616305
HP:0001510	HP:0001510	Growth delay	1	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	15	203	3974	606806
HP:0001510	HP:0001510	Growth delay	1	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	40	119	24861	611045
HP:0001510	HP:0001510	Growth delay	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001510	HP:0001510	Growth delay	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0001510	HP:0001510	Growth delay	1	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	279	216	4392	139320
HP:0001510	HP:0001510	Growth delay	1	GNB1 CL E G H	2782	488613				ORPHA	1	24	184	4396	139380
HP:0001510	HP:0001510	Growth delay	1	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	243	388	4689	600179
HP:0001510	HP:0001510	Growth delay	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	26	94	4799	601609
HP:0001510	HP:0001510	Growth delay	1	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1		76	4909	603825
HP:0001510	HP:0001510	Growth delay	1	HLCS CL E G H	3141	79242				ORPHA	1	49	373	4976	609018
HP:0001510	HP:0001510	Growth delay	1	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	14	32	5013	141250
HP:0001510	HP:0001510	Growth delay	1	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	49	62	5209	614232
HP:0001510	HP:0001510	Growth delay	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	14	77	14348	606441
HP:0001510	HP:0001510	Growth delay	1	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	3	33	6005	605384
HP:0001510	HP:0001510	Growth delay	1	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	5	46	21071	612025
HP:0001510	HP:0001510	Growth delay	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	45	386	30497	611254
HP:0001510	HP:0001510	Growth delay	1	KRAS CL E G H	3845	3339				ORPHA	1	45	274	6407	190070
HP:0001510	HP:0001510	Growth delay	1	KRT14 CL E G H	3861	89838				ORPHA	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	1	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	1	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	155	223	6442	148040
HP:0001510	HP:0001510	Growth delay	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	8	179	16429	607031
HP:0001510	HP:0001510	Growth delay	1	LIG4 CL E G H	3981	99812				ORPHA	1	40	317	6601	601837
HP:0001510	HP:0001510	Growth delay	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	9	172	30922	610350
HP:0001510	HP:0001510	Growth delay	1	LIPA CL E G H	3988	75233				ORPHA	1	96	246	6617	613497
HP:0001510	HP:0001510	Growth delay	1	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	574	1152	6636	150330
HP:0001510	HP:0001510	Growth delay	1	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	16	509	14450	605519
HP:0001510	HP:0001510	Growth delay	1	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	68	631	1742	606453
HP:0001510	HP:0001510	Growth delay	1	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	7	149	6819	604860
HP:0001510	HP:0001510	Growth delay	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	393	6826	609458
HP:0001510	HP:0001510	Growth delay	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	122	6901	600521
HP:0001510	HP:0001510	Growth delay	1	MMUT CL E G H	4594	289916				ORPHA	1		440	7526	609058
HP:0001510	HP:0001510	Growth delay	1	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	35	181	7190	603707
HP:0001510	HP:0001510	Growth delay	1	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	16	118	7193	603708
HP:0001510	HP:0001510	Growth delay	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	19	50	16002	609188
HP:0001510	HP:0001510	Growth delay	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	9	84	14508	605810
HP:0001510	HP:0001510	Growth delay	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	7	57	33778	615345
HP:0001510	HP:0001510	Growth delay	1	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	81	419	7603	606540
HP:0001510	HP:0001510	Growth delay	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	296	18704	300013
HP:0001510	HP:0001510	Growth delay	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	7	84	7680	600853
HP:0001510	HP:0001510	Growth delay	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	69	7711	602694
HP:0001510	HP:0001510	Growth delay	1	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0001510	HP:0001510	Growth delay	1	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	8	56	7782	600492
HP:0001510	HP:0001510	Growth delay	1	NHEJ1 CL E G H	79840	169079				ORPHA	1	16	75	25737	611290
HP:0001510	HP:0001510	Growth delay	1	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	3	92	14377	606470
HP:0001510	HP:0001510	Growth delay	1	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	112	215	2488	600584
HP:0001510	HP:0001510	Growth delay	1	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	18	134	14374	606636
HP:0001510	HP:0001510	Growth delay	1	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	142	488	16400	606416
HP:0001510	HP:0001510	Growth delay	1	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	79	403	7905	607100
HP:0001510	HP:0001510	Growth delay	1	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	118	659	19104	607215
HP:0001510	HP:0001510	Growth delay	1	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	320	483	7908	602716
HP:0001510	HP:0001510	Growth delay	1	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	510	2567	300170
HP:0001510	HP:0001510	Growth delay	1	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	170	255	8574	601545
HP:0001510	HP:0001510	Growth delay	1	PAH CL E G H	5053	79254				ORPHA	1	980	920	8582	612349
HP:0001510	HP:0001510	Growth delay	1	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	571	496	8620	607108
HP:0001510	HP:0001510	Growth delay	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	51	143	8622	167415
HP:0001510	HP:0001510	Growth delay	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0001510	HP:0001510	Growth delay	1	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	23	145	8923	606879
HP:0001510	HP:0001510	Growth delay	1	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	114	358	8926	300798
HP:0001510	HP:0001510	Growth delay	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0001510	HP:0001510	Growth delay	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	2	14	8964	600154
HP:0001510	HP:0001510	Growth delay	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	21	449	23215	614730
HP:0001510	HP:0001510	Growth delay	1	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	2	73	3046	605938
HP:0001510	HP:0001510	Growth delay	1	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	23	28213	610662
HP:0001510	HP:0001510	Growth delay	1	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	16	167	23166	610316
HP:0001510	HP:0001510	Growth delay	1	PPM1B CL E G H	5495	163693				ORPHA	1	1	30	9276	603770
HP:0001510	HP:0001510	Growth delay	1	PREPL CL E G H	9581	163693				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	1	PREPL CL E G H	9581	163690				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	259	9462	311850
HP:0001510	HP:0001510	Growth delay	1	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	16	36	9817	179617
HP:0001510	HP:0001510	Growth delay	1	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	6	108	9891	604124
HP:0001510	HP:0001510	Growth delay	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	14	178	15864	610924
HP:0001510	HP:0001510	Growth delay	1	RECQL4 CL E G H	9401	221016				ORPHA	1	122	2028	9949	603780
HP:0001510	HP:0001510	Growth delay	1	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0001510	HP:0001510	Growth delay	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0001510	HP:0001510	Growth delay	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	77	100	10360	603634
HP:0001510	HP:0001510	Growth delay	1	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	5	52	10383	603632
HP:0001510	HP:0001510	Growth delay	1	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	1	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	20	266	29242	613293
HP:0001510	HP:0001510	Growth delay	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0001510	HP:0001510	Growth delay	1	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	9	160	10906	601295
HP:0001510	HP:0001510	Growth delay	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	192	10933	604322
HP:0001510	HP:0001510	Growth delay	1	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	115	229	10983	603859
HP:0001510	HP:0001510	Growth delay	1	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	89	150	3018	126650
HP:0001510	HP:0001510	Growth delay	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	40	223	20305	609826
HP:0001510	HP:0001510	Growth delay	1	SLC3A1 CL E G H	6519	163693				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	1	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	22	187	11030	603345
HP:0001510	HP:0001510	Growth delay	1	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	18	138	11040	601843
HP:0001510	HP:0001510	Growth delay	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	29	25763	613176
HP:0001510	HP:0001510	Growth delay	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	15	54	20318	608488
HP:0001510	HP:0001510	Growth delay	1	SNX10 CL E G H	29887	667				ORPHA	1	13	46	14974	614780
HP:0001510	HP:0001510	Growth delay	1	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	14	70	11191	600898
HP:0001510	HP:0001510	Growth delay	1	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	100	11257	182125
HP:0001510	HP:0001510	Growth delay	1	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	28	120	11449	611224
HP:0001510	HP:0001510	Growth delay	1	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	36	140	11573	613018
HP:0001510	HP:0001510	Growth delay	1	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1	158	400	11577	300394
HP:0001510	HP:0001510	Growth delay	1	TBR1 CL E G H	10716	1617				ORPHA	1	18	78	11590	604616
HP:0001510	HP:0001510	Growth delay	1	TCIRG1 CL E G H	10312	667				ORPHA	1	137	289	11647	604592
HP:0001510	HP:0001510	Growth delay	1	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	14	34	11796	190120
HP:0001510	HP:0001510	Growth delay	1	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1	15		27962	612374
HP:0001510	HP:0001510	Growth delay	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	221	14432	614423
HP:0001510	HP:0001510	Growth delay	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	1	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	1	TNFSF11 CL E G H	8600	667				ORPHA	1	16	117	11926	602642
HP:0001510	HP:0001510	Growth delay	1	TRHR CL E G H	7201	99832				ORPHA	1	7	49	12299	188545
HP:0001510	HP:0001510	Growth delay	1	TSPYL1 CL E G H	7259	168593				ORPHA	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	1	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	1	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	13478	608047
HP:0001510	HP:0001510	Growth delay	1	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	2	17	26941	610554
HP:0001510	HP:0001510	Growth delay	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	1	23	34399	616097
HP:0001510	HP:0001510	Growth delay	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	71	184	12679	601769
HP:0001510	HP:0001510	Growth delay	1	VPS11 CL E G H	55823	466934				ORPHA	1	3	54	14583	608549
HP:0001510	HP:0001510	Growth delay	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	393	714	12762	606201
HP:0001510	HP:0001510	Growth delay	1	WNT4 CL E G H	54361	139466				ORPHA	1	8	29	12783	603490
HP:0001510	HP:0001510	Growth delay	1	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	23	358	12829	600375
HP:0001510	HP:0001510	Growth delay	1	XRCC4 CL E G H	7518	99812				ORPHA	1	15	37	12831	194363
HP:0001510	HP:0001510	Growth delay	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	13	203	24249	610957
HP:0001510	HP:0001510	Growth delay	1	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	44	146	12851	605066
HP:0001510	HP:0001510	Growth delay	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	18	134	21143	614064
HP:0001510	HP:0001510	Growth delay	2	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	8	138	68	603214
HP:0001510	HP:0001510	Growth delay	2	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	7	134	84	200350
HP:0001510	HP:0001510	Growth delay	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001510	HP:0001510	Growth delay	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001510	HP:0001510	Growth delay	2	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001510	HP:0001510	Growth delay	2	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001510	HP:0001510	Growth delay	2	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0001510	HP:0001510	Growth delay	2	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	64	156	430	603741
HP:0001510	HP:0001510	Growth delay	2	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	22	138	13743	607206
HP:0001510	HP:0001510	Growth delay	2	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	24	21014	606410
HP:0001510	HP:0001510	Growth delay	2	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	2	36	559	603531
HP:0001510	HP:0001510	Growth delay	2	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	93	173	866	605239
HP:0001510	HP:0001510	Growth delay	2	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	886	300032
HP:0001510	HP:0001510	Growth delay	2	AVP CL E G H	551	30925				ORPHA	1	83	69	894	192340
HP:0001510	HP:0001510	Growth delay	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0001510	HP:0001510	Growth delay	2	CAMKMT CL E G H	79823	163693				ORPHA	1		32	26276	609559
HP:0001510	HP:0001510	Growth delay	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0001510	HP:0001510	Growth delay	2	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	32	2665	125240
HP:0001510	HP:0001510	Growth delay	2	CLCN7 CL E G H	1186	667				ORPHA	1	100	268	2025	602727
HP:0001510	HP:0001510	Growth delay	2	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	2	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	2	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	217	30664	616254
HP:0001510	HP:0001510	Growth delay	2	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0001510	HP:0001510	Growth delay	2	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	828	691	2214	120120
HP:0001510	HP:0001510	Growth delay	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0001510	HP:0001510	Growth delay	2	CTNS CL E G H	1497	411629				ORPHA	1	160	418	2518	606272
HP:0001510	HP:0001510	Growth delay	2	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	85	2873	613213
HP:0001510	HP:0001510	Growth delay	2	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	2	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	2594	107910
HP:0001510	HP:0001510	Growth delay	2	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	82	93	2606	609506
HP:0001510	HP:0001510	Growth delay	2	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	6	46	20580	608713
HP:0001510	HP:0001510	Growth delay	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	180	13681	603057
HP:0001510	HP:0001510	Growth delay	2	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001510	HP:0001510	Growth delay	2	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	20	125	2867	126064
HP:0001510	HP:0001510	Growth delay	2	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001510	HP:0001510	Growth delay	2	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	30	108	3013	613326
HP:0001510	HP:0001510	Growth delay	2	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	35	89	3048	125670
HP:0001510	HP:0001510	Growth delay	2	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	9	1017	1090	113810
HP:0001510	HP:0001510	Growth delay	2	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	18	54	32698	612772
HP:0001510	HP:0001510	Growth delay	2	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	3267	300161
HP:0001510	HP:0001510	Growth delay	2	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	21	238	14198	605367
HP:0001510	HP:0001510	Growth delay	2	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	17	122	14415	605512
HP:0001510	HP:0001510	Growth delay	2	ELP1 CL E G H	8518	1764				ORPHA	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	2	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	2	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0001510	HP:0001510	Growth delay	2	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	19	140	17944	606489
HP:0001510	HP:0001510	Growth delay	2	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	21	352	3583	300515
HP:0001510	HP:0001510	Growth delay	2	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	40	26222	616107
HP:0001510	HP:0001510	Growth delay	2	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	24	261	21062	611592
HP:0001510	HP:0001510	Growth delay	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	317	23109	612411
HP:0001510	HP:0001510	Growth delay	2	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	48	434	13601	605654
HP:0001510	HP:0001510	Growth delay	2	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0001510	HP:0001510	Growth delay	2	FRMD4A CL E G H	55691	466688				ORPHA	1	2	53	25491	616305
HP:0001510	HP:0001510	Growth delay	2	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	15	203	3974	606806
HP:0001510	HP:0001510	Growth delay	2	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	40	119	24861	611045
HP:0001510	HP:0001510	Growth delay	2	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001510	HP:0001510	Growth delay	2	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0001510	HP:0001510	Growth delay	2	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	279	216	4392	139320
HP:0001510	HP:0001510	Growth delay	2	GNB1 CL E G H	2782	488613				ORPHA	1	24	184	4396	139380
HP:0001510	HP:0001510	Growth delay	2	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	243	388	4689	600179
HP:0001510	HP:0001510	Growth delay	2	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	26	94	4799	601609
HP:0001510	HP:0001510	Growth delay	2	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1		76	4909	603825
HP:0001510	HP:0001510	Growth delay	2	HLCS CL E G H	3141	79242				ORPHA	1	49	373	4976	609018
HP:0001510	HP:0001510	Growth delay	2	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	14	32	5013	141250
HP:0001510	HP:0001510	Growth delay	2	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	49	62	5209	614232
HP:0001510	HP:0001510	Growth delay	2	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	14	77	14348	606441
HP:0001510	HP:0001510	Growth delay	2	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	3	33	6005	605384
HP:0001510	HP:0001510	Growth delay	2	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	5	46	21071	612025
HP:0001510	HP:0001510	Growth delay	2	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	45	386	30497	611254
HP:0001510	HP:0001510	Growth delay	2	KRAS CL E G H	3845	3339				ORPHA	1	45	274	6407	190070
HP:0001510	HP:0001510	Growth delay	2	KRT14 CL E G H	3861	89838				ORPHA	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	2	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	2	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	155	223	6442	148040
HP:0001510	HP:0001510	Growth delay	2	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	8	179	16429	607031
HP:0001510	HP:0001510	Growth delay	2	LIG4 CL E G H	3981	99812				ORPHA	1	40	317	6601	601837
HP:0001510	HP:0001510	Growth delay	2	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	9	172	30922	610350
HP:0001510	HP:0001510	Growth delay	2	LIPA CL E G H	3988	75233				ORPHA	1	96	246	6617	613497
HP:0001510	HP:0001510	Growth delay	2	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	574	1152	6636	150330
HP:0001510	HP:0001510	Growth delay	2	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	16	509	14450	605519
HP:0001510	HP:0001510	Growth delay	2	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	68	631	1742	606453
HP:0001510	HP:0001510	Growth delay	2	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	7	149	6819	604860
HP:0001510	HP:0001510	Growth delay	2	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	393	6826	609458
HP:0001510	HP:0001510	Growth delay	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	122	6901	600521
HP:0001510	HP:0001510	Growth delay	2	MMUT CL E G H	4594	289916				ORPHA	1		440	7526	609058
HP:0001510	HP:0001510	Growth delay	2	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	35	181	7190	603707
HP:0001510	HP:0001510	Growth delay	2	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	16	118	7193	603708
HP:0001510	HP:0001510	Growth delay	2	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	19	50	16002	609188
HP:0001510	HP:0001510	Growth delay	2	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	9	84	14508	605810
HP:0001510	HP:0001510	Growth delay	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	7	57	33778	615345
HP:0001510	HP:0001510	Growth delay	2	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	81	419	7603	606540
HP:0001510	HP:0001510	Growth delay	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	296	18704	300013
HP:0001510	HP:0001510	Growth delay	2	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	7	84	7680	600853
HP:0001510	HP:0001510	Growth delay	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	69	7711	602694
HP:0001510	HP:0001510	Growth delay	2	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0001510	HP:0001510	Growth delay	2	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	8	56	7782	600492
HP:0001510	HP:0001510	Growth delay	2	NHEJ1 CL E G H	79840	169079				ORPHA	1	16	75	25737	611290
HP:0001510	HP:0001510	Growth delay	2	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	3	92	14377	606470
HP:0001510	HP:0001510	Growth delay	2	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	112	215	2488	600584
HP:0001510	HP:0001510	Growth delay	2	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	18	134	14374	606636
HP:0001510	HP:0001510	Growth delay	2	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	142	488	16400	606416
HP:0001510	HP:0001510	Growth delay	2	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	79	403	7905	607100
HP:0001510	HP:0001510	Growth delay	2	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	118	659	19104	607215
HP:0001510	HP:0001510	Growth delay	2	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	320	483	7908	602716
HP:0001510	HP:0001510	Growth delay	2	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	510	2567	300170
HP:0001510	HP:0001510	Growth delay	2	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	170	255	8574	601545
HP:0001510	HP:0001510	Growth delay	2	PAH CL E G H	5053	79254				ORPHA	1	980	920	8582	612349
HP:0001510	HP:0001510	Growth delay	2	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	571	496	8620	607108
HP:0001510	HP:0001510	Growth delay	2	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	51	143	8622	167415
HP:0001510	HP:0001510	Growth delay	2	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0001510	HP:0001510	Growth delay	2	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	23	145	8923	606879
HP:0001510	HP:0001510	Growth delay	2	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	114	358	8926	300798
HP:0001510	HP:0001510	Growth delay	2	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0001510	HP:0001510	Growth delay	2	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	2	14	8964	600154
HP:0001510	HP:0001510	Growth delay	2	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	21	449	23215	614730
HP:0001510	HP:0001510	Growth delay	2	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	2	73	3046	605938
HP:0001510	HP:0001510	Growth delay	2	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	23	28213	610662
HP:0001510	HP:0001510	Growth delay	2	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	16	167	23166	610316
HP:0001510	HP:0001510	Growth delay	2	PPM1B CL E G H	5495	163693				ORPHA	1	1	30	9276	603770
HP:0001510	HP:0001510	Growth delay	2	PREPL CL E G H	9581	163693				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	2	PREPL CL E G H	9581	163690				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	259	9462	311850
HP:0001510	HP:0001510	Growth delay	2	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	16	36	9817	179617
HP:0001510	HP:0001510	Growth delay	2	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	6	108	9891	604124
HP:0001510	HP:0001510	Growth delay	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	14	178	15864	610924
HP:0001510	HP:0001510	Growth delay	2	RECQL4 CL E G H	9401	221016				ORPHA	1	122	2028	9949	603780
HP:0001510	HP:0001510	Growth delay	2	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0001510	HP:0001510	Growth delay	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0001510	HP:0001510	Growth delay	2	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	77	100	10360	603634
HP:0001510	HP:0001510	Growth delay	2	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	5	52	10383	603632
HP:0001510	HP:0001510	Growth delay	2	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	2	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	2	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	20	266	29242	613293
HP:0001510	HP:0001510	Growth delay	2	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0001510	HP:0001510	Growth delay	2	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	9	160	10906	601295
HP:0001510	HP:0001510	Growth delay	2	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	192	10933	604322
HP:0001510	HP:0001510	Growth delay	2	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	115	229	10983	603859
HP:0001510	HP:0001510	Growth delay	2	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	89	150	3018	126650
HP:0001510	HP:0001510	Growth delay	2	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	40	223	20305	609826
HP:0001510	HP:0001510	Growth delay	2	SLC3A1 CL E G H	6519	163693				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	2	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	22	187	11030	603345
HP:0001510	HP:0001510	Growth delay	2	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	18	138	11040	601843
HP:0001510	HP:0001510	Growth delay	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	29	25763	613176
HP:0001510	HP:0001510	Growth delay	2	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	15	54	20318	608488
HP:0001510	HP:0001510	Growth delay	2	SNX10 CL E G H	29887	667				ORPHA	1	13	46	14974	614780
HP:0001510	HP:0001510	Growth delay	2	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	14	70	11191	600898
HP:0001510	HP:0001510	Growth delay	2	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	100	11257	182125
HP:0001510	HP:0001510	Growth delay	2	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	28	120	11449	611224
HP:0001510	HP:0001510	Growth delay	2	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	36	140	11573	613018
HP:0001510	HP:0001510	Growth delay	2	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1	158	400	11577	300394
HP:0001510	HP:0001510	Growth delay	2	TBR1 CL E G H	10716	1617				ORPHA	1	18	78	11590	604616
HP:0001510	HP:0001510	Growth delay	2	TCIRG1 CL E G H	10312	667				ORPHA	1	137	289	11647	604592
HP:0001510	HP:0001510	Growth delay	2	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	14	34	11796	190120
HP:0001510	HP:0001510	Growth delay	2	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1	15		27962	612374
HP:0001510	HP:0001510	Growth delay	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	221	14432	614423
HP:0001510	HP:0001510	Growth delay	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	2	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	2	TNFSF11 CL E G H	8600	667				ORPHA	1	16	117	11926	602642
HP:0001510	HP:0001510	Growth delay	2	TRHR CL E G H	7201	99832				ORPHA	1	7	49	12299	188545
HP:0001510	HP:0001510	Growth delay	2	TSPYL1 CL E G H	7259	168593				ORPHA	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	2	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	2	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	13478	608047
HP:0001510	HP:0001510	Growth delay	2	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	2	17	26941	610554
HP:0001510	HP:0001510	Growth delay	2	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	1	23	34399	616097
HP:0001510	HP:0001510	Growth delay	2	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	71	184	12679	601769
HP:0001510	HP:0001510	Growth delay	2	VPS11 CL E G H	55823	466934				ORPHA	1	3	54	14583	608549
HP:0001510	HP:0001510	Growth delay	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	393	714	12762	606201
HP:0001510	HP:0001510	Growth delay	2	WNT4 CL E G H	54361	139466				ORPHA	1	8	29	12783	603490
HP:0001510	HP:0001510	Growth delay	2	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	23	358	12829	600375
HP:0001510	HP:0001510	Growth delay	2	XRCC4 CL E G H	7518	99812				ORPHA	1	15	37	12831	194363
HP:0001510	HP:0001510	Growth delay	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	13	203	24249	610957
HP:0001510	HP:0001510	Growth delay	2	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	44	146	12851	605066
HP:0001510	HP:0001510	Growth delay	2	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	18	134	21143	614064
HP:0001510	HP:0001510	Growth delay	3	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	8	138	68	603214
HP:0001510	HP:0001510	Growth delay	3	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	7	134	84	200350
HP:0001510	HP:0001510	Growth delay	3	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001510	HP:0001510	Growth delay	3	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001510	HP:0001510	Growth delay	3	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001510	HP:0001510	Growth delay	3	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001510	HP:0001510	Growth delay	3	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0001510	HP:0001510	Growth delay	3	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	64	156	430	603741
HP:0001510	HP:0001510	Growth delay	3	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	22	138	13743	607206
HP:0001510	HP:0001510	Growth delay	3	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	24	21014	606410
HP:0001510	HP:0001510	Growth delay	3	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	2	36	559	603531
HP:0001510	HP:0001510	Growth delay	3	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	93	173	866	605239
HP:0001510	HP:0001510	Growth delay	3	ATRX CL E G H	546	301040	ATR-X syndrome	301040	C1845055	OMIM	1	170	663	886	300032
HP:0001510	HP:0001510	Growth delay	3	AVP CL E G H	551	30925				ORPHA	1	83	69	894	192340
HP:0001510	HP:0001510	Growth delay	3	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	415	20893	300485
HP:0001510	HP:0001510	Growth delay	3	CAMKMT CL E G H	79823	163693				ORPHA	1		32	26276	609559
HP:0001510	HP:0001510	Growth delay	3	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0001510	HP:0001510	Growth delay	3	CD55 CL E G H	1604	226300	Protein-losing enteropathy	226300	C0033680	OMIM	1	25	32	2665	125240
HP:0001510	HP:0001510	Growth delay	3	CLCN7 CL E G H	1186	667				ORPHA	1	100	268	2025	602727
HP:0001510	HP:0001510	Growth delay	3	CLP1 CL E G H	10978	411493				ORPHA	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	3	CLP1 CL E G H	10978	615803	Pontocerebellar hypoplasia, type 10	615803	C4014347	OMIM	1	2	32	16999	608757
HP:0001510	HP:0001510	Growth delay	3	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	25	217	30664	616254
HP:0001510	HP:0001510	Growth delay	3	COG4 CL E G H	25839	263501				ORPHA	1	6	141	18620	606976
HP:0001510	HP:0001510	Growth delay	3	COL7A1 CL E G H	1294	226600	Recessive dystrophic epidermolysis bullosa	226600	C0079474	OMIM	1	828	691	2214	120120
HP:0001510	HP:0001510	Growth delay	3	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0001510	HP:0001510	Growth delay	3	CTNS CL E G H	1497	411629				ORPHA	1	160	418	2518	606272
HP:0001510	HP:0001510	Growth delay	3	CYB5R3 CL E G H	1727	250800	Deficiency of cytochrome-b5 reductase	250800	C0268193	OMIM	1	75	85	2873	613213
HP:0001510	HP:0001510	Growth delay	3	CYP11B2 CL E G H	1585	203400	Corticosterone methyloxidase type 1 deficiency	203400	CN074214	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	3	CYP11B2 CL E G H	1585	610600	Corticosterone methyloxidase type 2 deficiency	610600	C3463917	OMIM	1	55	221	2592	124080
HP:0001510	HP:0001510	Growth delay	3	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	73	151	2594	107910
HP:0001510	HP:0001510	Growth delay	3	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	82	93	2606	609506
HP:0001510	HP:0001510	Growth delay	3	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	6	46	20580	608713
HP:0001510	HP:0001510	Growth delay	3	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	180	13681	603057
HP:0001510	HP:0001510	Growth delay	3	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001510	HP:0001510	Growth delay	3	DHODH CL E G H	1723	263750	Miller syndrome	263750	C0265257	OMIM	1	20	125	2867	126064
HP:0001510	HP:0001510	Growth delay	3	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001510	HP:0001510	Growth delay	3	DPYS CL E G H	1807	222748	Dihydropyrimidinase deficiency	222748	C0342803	OMIM	1	30	108	3013	613326
HP:0001510	HP:0001510	Growth delay	3	DSG1 CL E G H	1828	615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	615508	C3809719	OMIM	1	35	89	3048	125670
HP:0001510	HP:0001510	Growth delay	3	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	9	1017	1090	113810
HP:0001510	HP:0001510	Growth delay	3	DUOXA2 CL E G H	405753	274900	Thyroglobulin synthesis defect	274900	C0342196	OMIM	1	18	54	32698	612772
HP:0001510	HP:0001510	Growth delay	3	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	3267	300161
HP:0001510	HP:0001510	Growth delay	3	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	21	238	14198	605367
HP:0001510	HP:0001510	Growth delay	3	ELOVL4 CL E G H	6785	614457	Ichthyosis, spastic quadriplegia, and mental retardation	614457	C3280856	OMIM	1	17	122	14415	605512
HP:0001510	HP:0001510	Growth delay	3	ELP1 CL E G H	8518	1764				ORPHA	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	3	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	6	660	5959	603722
HP:0001510	HP:0001510	Growth delay	3	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0001510	HP:0001510	Growth delay	3	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	19	140	17944	606489
HP:0001510	HP:0001510	Growth delay	3	FANCB CL E G H	2187	300514	Fanconi anemia, complementation group B	300514	C1845292	OMIM	1	21	352	3583	300515
HP:0001510	HP:0001510	Growth delay	3	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	4	40	26222	616107
HP:0001510	HP:0001510	Growth delay	3	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	24	261	21062	611592
HP:0001510	HP:0001510	Growth delay	3	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	317	23109	612411
HP:0001510	HP:0001510	Growth delay	3	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	48	434	13601	605654
HP:0001510	HP:0001510	Growth delay	3	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0001510	HP:0001510	Growth delay	3	FRMD4A CL E G H	55691	466688				ORPHA	1	2	53	25491	616305
HP:0001510	HP:0001510	Growth delay	3	FTCD CL E G H	10841	229100	GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	229100	C0268609	OMIM	1	15	203	3974	606806
HP:0001510	HP:0001510	Growth delay	3	G6PC3 CL E G H	92579	612541	Severe congenital neutropenia 4, autosomal recessive	612541	C2675526	OMIM	1	40	119	24861	611045
HP:0001510	HP:0001510	Growth delay	3	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0001510	HP:0001510	Growth delay	3	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	5	39	24247	610516
HP:0001510	HP:0001510	Growth delay	3	GNAS CL E G H	2778	166350	Progressive osseous heteroplasia	166350	C0334041	OMIM	1	279	216	4392	139320
HP:0001510	HP:0001510	Growth delay	3	GNB1 CL E G H	2782	488613				ORPHA	1	24	184	4396	139380
HP:0001510	HP:0001510	Growth delay	3	GUCY2D CL E G H	3000	204000	Leber congenital amaurosis 1	204000	C2931258	OMIM	1	243	388	4689	600179
HP:0001510	HP:0001510	Growth delay	3	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	26	94	4799	601609
HP:0001510	HP:0001510	Growth delay	3	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1		76	4909	603825
HP:0001510	HP:0001510	Growth delay	3	HLCS CL E G H	3141	79242				ORPHA	1	49	373	4976	609018
HP:0001510	HP:0001510	Growth delay	3	HMOX1 CL E G H	3162	614034	Heme oxygenase 1 deficiency	614034	C1841651	OMIM	1	14	32	5013	141250
HP:0001510	HP:0001510	Growth delay	3	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	49	62	5209	614232
HP:0001510	HP:0001510	Growth delay	3	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	14	77	14348	606441
HP:0001510	HP:0001510	Growth delay	3	IL21 CL E G H	59067	615767	Common variable immunodeficiency 11	615767	C4014258	OMIM	1	3	33	6005	605384
HP:0001510	HP:0001510	Growth delay	3	IYD CL E G H	389434	274800	Iodotyrosine deiodination defect	274800	C0342195	OMIM	1	5	46	21071	612025
HP:0001510	HP:0001510	Growth delay	3	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	1	45	386	30497	611254
HP:0001510	HP:0001510	Growth delay	3	KRAS CL E G H	3845	3339				ORPHA	1	45	274	6407	190070
HP:0001510	HP:0001510	Growth delay	3	KRT14 CL E G H	3861	89838				ORPHA	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	3	KRT14 CL E G H	3861	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	118	135	6416	148066
HP:0001510	HP:0001510	Growth delay	3	KRT5 CL E G H	3852	131760	Epidermolysis bullosa herpetiformis, Dowling-Meara	131760	C0079295	OMIM	1	155	223	6442	148040
HP:0001510	HP:0001510	Growth delay	3	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	8	179	16429	607031
HP:0001510	HP:0001510	Growth delay	3	LIG4 CL E G H	3981	99812				ORPHA	1	40	317	6601	601837
HP:0001510	HP:0001510	Growth delay	3	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	9	172	30922	610350
HP:0001510	HP:0001510	Growth delay	3	LIPA CL E G H	3988	75233				ORPHA	1	96	246	6617	613497
HP:0001510	HP:0001510	Growth delay	3	LMNA CL E G H	4000	176670	Hutchinson-Gilford syndrome	176670	C0033300	OMIM	1	574	1152	6636	150330
HP:0001510	HP:0001510	Growth delay	3	LPIN2 CL E G H	9663	609628	Majeed syndrome	609628	C1864997	OMIM	1	16	509	14450	605519
HP:0001510	HP:0001510	Growth delay	3	LRBA CL E G H	987	614700	Common variable immunodeficiency 8, with autoimmunity	614700	C3553512	OMIM	1	68	631	1742	606453
HP:0001510	HP:0001510	Growth delay	3	MALT1 CL E G H	10892	615468	Immunodeficiency 12	615468	C3809583	OMIM	1	7	149	6819	604860
HP:0001510	HP:0001510	Growth delay	3	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	393	6826	609458
HP:0001510	HP:0001510	Growth delay	3	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	122	6901	600521
HP:0001510	HP:0001510	Growth delay	3	MMUT CL E G H	4594	289916				ORPHA	1		440	7526	609058
HP:0001510	HP:0001510	Growth delay	3	MOCS1 CL E G H	4337	252150	Molybdenum cofactor deficiency, complementation group A	252150	C1854988	OMIM	1	35	181	7190	603707
HP:0001510	HP:0001510	Growth delay	3	MOCS2 CL E G H	4338	252160	Molybdenum cofactor deficiency, complementation group B	252160	C1854989	OMIM	1	16	118	7193	603708
HP:0001510	HP:0001510	Growth delay	3	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	1	19	50	16002	609188
HP:0001510	HP:0001510	Growth delay	3	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	9	84	14508	605810
HP:0001510	HP:0001510	Growth delay	3	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	7	57	33778	615345
HP:0001510	HP:0001510	Growth delay	3	MYO5B CL E G H	4645	251850	Congenital microvillous atrophy	251850	C0341306	OMIM	1	81	419	7603	606540
HP:0001510	HP:0001510	Growth delay	3	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	296	18704	300013
HP:0001510	HP:0001510	Growth delay	3	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	7	84	7680	600853
HP:0001510	HP:0001510	Growth delay	3	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	69	7711	602694
HP:0001510	HP:0001510	Growth delay	3	NEXMIF CL E G H	340533	300912	Mental retardation, X-linked 98	300912	C3806730	OMIM	1	41	468	29433	300524
HP:0001510	HP:0001510	Growth delay	3	NFE2L2 CL E G H	4780	617744	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	617744	C4540293	OMIM	1	8	56	7782	600492
HP:0001510	HP:0001510	Growth delay	3	NHEJ1 CL E G H	79840	169079				ORPHA	1	16	75	25737	611290
HP:0001510	HP:0001510	Growth delay	3	NHP2 CL E G H	55651	613987	Dyskeratosis congenita, autosomal recessive 2	613987	C3151441	OMIM	1	3	92	14377	606470
HP:0001510	HP:0001510	Growth delay	3	NKX2-5 CL E G H	1482	225250	Hypothyroidism, congenital, nongoitrous, 5	225250	C2673630	OMIM	1	112	215	2488	600584
HP:0001510	HP:0001510	Growth delay	3	NLRP1 CL E G H	22861	617388	Autoinflammation with arthritis and dyskeratosis	617388	C4479278	OMIM	1	18	134	14374	606636
HP:0001510	HP:0001510	Growth delay	3	NLRP3 CL E G H	114548	607115	Chronic infantile neurological, cutaneous and articular syndrome	607115	C0409818	OMIM	1	142	488	16400	606416
HP:0001510	HP:0001510	Growth delay	3	NPHP1 CL E G H	4867	256100	Nephronophthisis 1	256100	C1855681	OMIM	1	79	403	7905	607100
HP:0001510	HP:0001510	Growth delay	3	NPHP4 CL E G H	261734	606966	Nephronophthisis 4	606966	C1847013	OMIM	1	118	659	19104	607215
HP:0001510	HP:0001510	Growth delay	3	NPHS1 CL E G H	4868	256300	Finnish congenital nephrotic syndrome	256300	C0403399	OMIM	1	320	483	7908	602716
HP:0001510	HP:0001510	Growth delay	3	OFD1 CL E G H	8481	300804	Joubert syndrome 10	300804	C2749019	OMIM	1	162	510	2567	300170
HP:0001510	HP:0001510	Growth delay	3	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	170	255	8574	601545
HP:0001510	HP:0001510	Growth delay	3	PAH CL E G H	5053	79254				ORPHA	1	980	920	8582	612349
HP:0001510	HP:0001510	Growth delay	3	PAX6 CL E G H	5080	120200	Congenital ocular coloboma	120200	C0009363	OMIM	1	571	496	8620	607108
HP:0001510	HP:0001510	Growth delay	3	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	51	143	8622	167415
HP:0001510	HP:0001510	Growth delay	3	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	4	133	9713	600279
HP:0001510	HP:0001510	Growth delay	3	PHGDH CL E G H	26227	601815	Phosphoglycerate dehydrogenase deficiency	601815	C1866174	OMIM	1	23	145	8923	606879
HP:0001510	HP:0001510	Growth delay	3	PHKA2 CL E G H	5256	306000	Glycogen storage disease type IXa1	306000	C0017927	OMIM	1	114	358	8926	300798
HP:0001510	HP:0001510	Growth delay	3	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0001510	HP:0001510	Growth delay	3	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	2	14	8964	600154
HP:0001510	HP:0001510	Growth delay	3	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	21	449	23215	614730
HP:0001510	HP:0001510	Growth delay	3	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	2	73	3046	605938
HP:0001510	HP:0001510	Growth delay	3	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	2	23	28213	610662
HP:0001510	HP:0001510	Growth delay	3	PNPT1 CL E G H	87178	614932	Combined oxidative phosphorylation deficiency 13	614932	C3554129	OMIM	1	16	167	23166	610316
HP:0001510	HP:0001510	Growth delay	3	PPM1B CL E G H	5495	163693				ORPHA	1	1	30	9276	603770
HP:0001510	HP:0001510	Growth delay	3	PREPL CL E G H	9581	163693				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	3	PREPL CL E G H	9581	163690				ORPHA	1	18	270	30228	609557
HP:0001510	HP:0001510	Growth delay	3	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	259	9462	311850
HP:0001510	HP:0001510	Growth delay	3	RAD51 CL E G H	5888	617244	Fanconi anemia, complementation group R	617244	C4284093	OMIM	1	16	36	9817	179617
HP:0001510	HP:0001510	Growth delay	3	RBBP8 CL E G H	5932	606744	Seckel syndrome 2	606744	C1847572	OMIM	1	6	108	9891	604124
HP:0001510	HP:0001510	Growth delay	3	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	14	178	15864	610924
HP:0001510	HP:0001510	Growth delay	3	RECQL4 CL E G H	9401	221016				ORPHA	1	122	2028	9949	603780
HP:0001510	HP:0001510	Growth delay	3	RLIM CL E G H	51132	300978	Mental retardation, X-linked 61	300978	C4283894	OMIM	1	5	161	13429	300379
HP:0001510	HP:0001510	Growth delay	3	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0001510	HP:0001510	Growth delay	3	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	77	100	10360	603634
HP:0001510	HP:0001510	Growth delay	3	RPS10 CL E G H	6204	613308	Diamond-Blackfan anemia 9	613308	C2750081	OMIM	1	5	52	10383	603632
HP:0001510	HP:0001510	Growth delay	3	SAR1B CL E G H	51128	246700	Chylomicron retention disease	246700	C0795956	OMIM	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	3	SAR1B CL E G H	51128	71	Human granulocytic ehrlichiosis			ORPHA	1	16	37	10535	607690
HP:0001510	HP:0001510	Growth delay	3	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	20	266	29242	613293
HP:0001510	HP:0001510	Growth delay	3	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0001510	HP:0001510	Growth delay	3	SLC10A2 CL E G H	6555	613291	Bile acid malabsorption, primary	613291	C2750087	OMIM	1	9	160	10906	601295
HP:0001510	HP:0001510	Growth delay	3	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	192	10933	604322
HP:0001510	HP:0001510	Growth delay	3	SLC25A13 CL E G H	10165	605814	Neonatal intrahepatic cholestasis caused by citrin deficiency	605814	C1853942	OMIM	1	115	229	10983	603859
HP:0001510	HP:0001510	Growth delay	3	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	89	150	3018	126650
HP:0001510	HP:0001510	Growth delay	3	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	40	223	20305	609826
HP:0001510	HP:0001510	Growth delay	3	SLC3A1 CL E G H	6519	163693				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	3	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	211	11025	104614
HP:0001510	HP:0001510	Growth delay	3	SLC4A4 CL E G H	8671	604278	Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation	604278	C1970309	OMIM	1	22	187	11030	603345
HP:0001510	HP:0001510	Growth delay	3	SLC5A5 CL E G H	6528	274400	Thyroid dyshormonogenesis 1	274400	C1848805	OMIM	1	18	138	11040	601843
HP:0001510	HP:0001510	Growth delay	3	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	29	25763	613176
HP:0001510	HP:0001510	Growth delay	3	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	15	54	20318	608488
HP:0001510	HP:0001510	Growth delay	3	SNX10 CL E G H	29887	667				ORPHA	1	13	46	14974	614780
HP:0001510	HP:0001510	Growth delay	3	SOX11 CL E G H	6664	615866	Mental retardation, autosomal dominant 27	615866	C4014528	OMIM	1	14	70	11191	600898
HP:0001510	HP:0001510	Growth delay	3	SPR CL E G H	6697	612716	Sepiapterin reductase deficiency	612716	C0268468	OMIM	1	25	100	11257	182125
HP:0001510	HP:0001510	Growth delay	3	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	28	120	11449	611224
HP:0001510	HP:0001510	Growth delay	3	TAT CL E G H	6898	276600	Tyrosinemia type 2	276600	C0268487	OMIM	1	36	140	11573	613018
HP:0001510	HP:0001510	Growth delay	3	TAZ CL E G H	6901	302060	3-Methylglutaconic aciduria type 2	302060	C0574083	OMIM	1	158	400	11577	300394
HP:0001510	HP:0001510	Growth delay	3	TBR1 CL E G H	10716	1617				ORPHA	1	18	78	11590	604616
HP:0001510	HP:0001510	Growth delay	3	TCIRG1 CL E G H	10312	667				ORPHA	1	137	289	11647	604592
HP:0001510	HP:0001510	Growth delay	3	THRA CL E G H	7067	614450	Hypothyroidism, congenital, nongoitrous, 6	614450	C3280817	OMIM	1	14	34	11796	190120
HP:0001510	HP:0001510	Growth delay	3	TMEM173 CL E G H	340061	615934	Sting-associated vasculopathy, infantile-onset	615934	C4014722	OMIM	1	15		27962	612374
HP:0001510	HP:0001510	Growth delay	3	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	221	14432	614423
HP:0001510	HP:0001510	Growth delay	3	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	3	TMEM67 CL E G H	91147	613550	Nephronophthisis 11	613550	C3150796	OMIM	1	174	316	28396	609884
HP:0001510	HP:0001510	Growth delay	3	TNFSF11 CL E G H	8600	667				ORPHA	1	16	117	11926	602642
HP:0001510	HP:0001510	Growth delay	3	TRHR CL E G H	7201	99832				ORPHA	1	7	49	12299	188545
HP:0001510	HP:0001510	Growth delay	3	TSPYL1 CL E G H	7259	168593				ORPHA	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	3	TSPYL1 CL E G H	7259	608800	Sudden infant death with dysgenesis of the testes syndrome	608800	C1837371	OMIM	1	8	32	12382	604714
HP:0001510	HP:0001510	Growth delay	3	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	13478	608047
HP:0001510	HP:0001510	Growth delay	3	UFC1 CL E G H	51506	618076	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH	618076	CN252685	OMIM	1	2	17	26941	610554
HP:0001510	HP:0001510	Growth delay	3	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	1	23	34399	616097
HP:0001510	HP:0001510	Growth delay	3	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	71	184	12679	601769
HP:0001510	HP:0001510	Growth delay	3	VPS11 CL E G H	55823	466934				ORPHA	1	3	54	14583	608549
HP:0001510	HP:0001510	Growth delay	3	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	393	714	12762	606201
HP:0001510	HP:0001510	Growth delay	3	WNT4 CL E G H	54361	139466				ORPHA	1	8	29	12783	603490
HP:0001510	HP:0001510	Growth delay	3	XRCC2 CL E G H	7516	617247	Fanconi anemia, complementation group U	617247	C4310651	OMIM	1	23	358	12829	600375
HP:0001510	HP:0001510	Growth delay	3	XRCC4 CL E G H	7518	99812				ORPHA	1	15	37	12831	194363
HP:0001510	HP:0001510	Growth delay	3	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	13	203	24249	610957
HP:0001510	HP:0001510	Growth delay	3	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	44	146	12851	605066
HP:0001510	HP:0001510	Growth delay	3	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	18	134	21143	614064
HP:0001510	HP:0001510	Growth delay	4	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	8	138	68	603214
HP:0001510	HP:0001510	Growth delay	4	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	7	134	84	200350
HP:0001510	HP:0001510	Growth delay	4	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	224	132	102630
HP:0001510	HP:0001510	Growth delay	4	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	261	144	102560
HP:0001510	HP:0001510	Growth delay	4	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	58	279	291	608222
HP:0001510	HP:0001510	Growth delay	4	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001510	HP:0001510	Growth delay	4	AHCY CL E G H	191	88618				ORPHA	1	15	94	343	180960
HP:0001510	HP:0001510	Growth delay	4	ALOX12B CL E G H	242	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	64	156	430	603741
HP:0001510	HP:0001510	Growth delay	4	ALOXE3 CL E G H	59344	242100	Autosomal recessive congenital ichthyosis 2	242100	C1855792	OMIM	1	22	138	13743	607206
HP:0001510	HP:0001510	Growth delay	4	ANTXR1 CL E G H	84168	230740	Odontotrichomelic syndrome	230740	C0406723	OMIM	1	14	24	21014	606410
HP:0001510	HP:0001510	Growth delay	4	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	2	36	559	603531
HP:0001510	HP:0001510	Growth delay	4	ATP6V0A4 CL E G H	50617	602722	Renal tubular acidosis, distal, autosomal recessive	602722	C1864498	OMIM	1	93	173	866	605239
HP:0001510	HP:0001510