Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000278	HP:0000278	Retrognathia	0	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1	605	23	137150
HP:0000278	HP:0000278	Retrognathia	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0000278	HP:0000278	Retrognathia	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000278	HP:0000278	Retrognathia	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000278	HP:0000278	Retrognathia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000278	HP:0000278	Retrognathia	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	596	568	607246
HP:0000278	HP:0000278	Retrognathia	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000278	HP:0000278	Retrognathia	0	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	227	18037	609539
HP:0000278	HP:0000278	Retrognathia	0	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0000278	HP:0000278	Retrognathia	0	ASPH CL E G H	444	601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	601552	C1832167	OMIM	1	131	757	600582
HP:0000278	HP:0000278	Retrognathia	0	ASXL1 CL E G H	171023	97297				ORPHA	1	503	18318	612990
HP:0000278	HP:0000278	Retrognathia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000278	HP:0000278	Retrognathia	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	232	23805	612991
HP:0000278	HP:0000278	Retrognathia	0	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1	123	851	607027
HP:0000278	HP:0000278	Retrognathia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	228	18802	608918
HP:0000278	HP:0000278	Retrognathia	0	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	154	13221	606557
HP:0000278	HP:0000278	Retrognathia	0	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0000278	HP:0000278	Retrognathia	0	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	458	29426	612753
HP:0000278	HP:0000278	Retrognathia	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0000278	HP:0000278	Retrognathia	0	CDC45 CL E G H	8318	2554				ORPHA	1	567	1739	603465
HP:0000278	HP:0000278	Retrognathia	0	CDC6 CL E G H	990	2554				ORPHA	1	104	1744	602627
HP:0000278	HP:0000278	Retrognathia	0	CDT1 CL E G H	81620	2554				ORPHA	1	326	24576	605525
HP:0000278	HP:0000278	Retrognathia	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	438	17272	609279
HP:0000278	HP:0000278	Retrognathia	0	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	277	29086	611423
HP:0000278	HP:0000278	Retrognathia	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	450	29298	613529
HP:0000278	HP:0000278	Retrognathia	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0000278	HP:0000278	Retrognathia	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0000278	HP:0000278	Retrognathia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	2016	2197	120150
HP:0000278	HP:0000278	Retrognathia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	1458	2198	120160
HP:0000278	HP:0000278	Retrognathia	0	COX7B CL E G H	1349	2556				ORPHA	1	173	2291	300885
HP:0000278	HP:0000278	Retrognathia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000278	HP:0000278	Retrognathia	0	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	80	2364	604237
HP:0000278	HP:0000278	Retrognathia	0	CTBP1 CL E G H	1487	617915	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	617915	CN895589	OMIM	1	217	2494	602618
HP:0000278	HP:0000278	Retrognathia	0	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	173	28005	617057
HP:0000278	HP:0000278	Retrognathia	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000278	HP:0000278	Retrognathia	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000278	HP:0000278	Retrognathia	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000278	HP:0000278	Retrognathia	0	DHCR24 CL E G H	1718	35107				ORPHA	1	216	2859	606418
HP:0000278	HP:0000278	Retrognathia	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	1714	28648	614184
HP:0000278	HP:0000278	Retrognathia	0	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	102	29043	612666
HP:0000278	HP:0000278	Retrognathia	0	DVL1 CL E G H	1855	3107				ORPHA	1	492	3084	601365
HP:0000278	HP:0000278	Retrognathia	0	DVL3 CL E G H	1857	3107				ORPHA	1	189	3087	601368
HP:0000278	HP:0000278	Retrognathia	0	EDN1 CL E G H	1906	615706	Auriculocondylar syndrome 3	615706	C3810332	OMIM	1	52	3176	131240
HP:0000278	HP:0000278	Retrognathia	0	EED CL E G H	8726	3447				ORPHA	1	97	3188	605984
HP:0000278	HP:0000278	Retrognathia	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	97	3188	605984
HP:0000278	HP:0000278	Retrognathia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000278	HP:0000278	Retrognathia	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000278	HP:0000278	Retrognathia	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	1196	3434	126340
HP:0000278	HP:0000278	Retrognathia	0	ERF CL E G H	2077	600775	Lambdoidal craniosynostosis	600775	C1833340	OMIM	1	131	3444	611888
HP:0000278	HP:0000278	Retrognathia	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000278	HP:0000278	Retrognathia	0	EYA1 CL E G H	2138	602588	Branchiootic syndrome	602588	C1865143	OMIM	1	434	3519	601653
HP:0000278	HP:0000278	Retrognathia	0	EZH2 CL E G H	2146	3447				ORPHA	1	416	3527	601573
HP:0000278	HP:0000278	Retrognathia	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	416	3527	601573
HP:0000278	HP:0000278	Retrognathia	0	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	350	22140	611061
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	2462				ORPHA	1	5970	3603	134797
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	616914	Marfan lipodystrophy syndrome	616914	C4310796	OMIM	1	5970	3603	134797
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000278	HP:0000278	Retrognathia	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	517	3702	300163
HP:0000278	HP:0000278	Retrognathia	0	FOXE1 CL E G H	2304	1226	Cervical hypertrichosis peripheral neuropathy			ORPHA	1	71	3806	602617
HP:0000278	HP:0000278	Retrognathia	0	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	449	3823	605515
HP:0000278	HP:0000278	Retrognathia	0	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	352	29007	300838
HP:0000278	HP:0000278	Retrognathia	0	FTO CL E G H	79068	612938	Growth retardation, developmental delay, coarse facies, and early death	612938	C2752001	OMIM	1	199	24678	610966
HP:0000278	HP:0000278	Retrognathia	0	FUT8 CL E G H	2530	618005	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION	618005	CN248517	OMIM	1	79	4019	602589
HP:0000278	HP:0000278	Retrognathia	0	FZD2 CL E G H	2535	3107				ORPHA	1	80	4040	600667
HP:0000278	HP:0000278	Retrognathia	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0000278	HP:0000278	Retrognathia	0	GMNN CL E G H	51053	2554				ORPHA	1	54	17493	602842
HP:0000278	HP:0000278	Retrognathia	0	HBA1 CL E G H	3039	98791				ORPHA	1	379	4823	141800
HP:0000278	HP:0000278	Retrognathia	0	HBA2 CL E G H	3040	98791				ORPHA	1	333	4824	141850
HP:0000278	HP:0000278	Retrognathia	0	HCCS CL E G H	3052	2556				ORPHA	1	218	4837	300056
HP:0000278	HP:0000278	Retrognathia	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	322	13315	300269
HP:0000278	HP:0000278	Retrognathia	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0000278	HP:0000278	Retrognathia	0	HYLS1 CL E G H	219844	2189				ORPHA	1	229	26558	610693
HP:0000278	HP:0000278	Retrognathia	0	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0000278	HP:0000278	Retrognathia	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0000278	HP:0000278	Retrognathia	0	IGBP1 CL E G H	3476	52055				ORPHA	1	151	5461	300139
HP:0000278	HP:0000278	Retrognathia	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	151	5461	300139
HP:0000278	HP:0000278	Retrognathia	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0000278	HP:0000278	Retrognathia	0	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	98	5466	147470
HP:0000278	HP:0000278	Retrognathia	0	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	647	37276	614631
HP:0000278	HP:0000278	Retrognathia	0	ITGA8 CL E G H	8516	191830	Renal adysplasia	191830	C1619700	OMIM	1	158	6144	604063
HP:0000278	HP:0000278	Retrognathia	0	KAT6B CL E G H	23522	3047				ORPHA	1	605	17582	605880
HP:0000278	HP:0000278	Retrognathia	0	KIF7 CL E G H	374654	2189				ORPHA	1	977	30497	611254
HP:0000278	HP:0000278	Retrognathia	0	KLHL7 CL E G H	55975	97297				ORPHA	1	258	15646	611119
HP:0000278	HP:0000278	Retrognathia	0	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	117	6404	615620
HP:0000278	HP:0000278	Retrognathia	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	243	25726	300964
HP:0000278	HP:0000278	Retrognathia	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	79	18712	608303
HP:0000278	HP:0000278	Retrognathia	0	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0000278	HP:0000278	Retrognathia	0	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	540	6717	604710
HP:0000278	HP:0000278	Retrognathia	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	620	6814	605283
HP:0000278	HP:0000278	Retrognathia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	1149	20444	611472
HP:0000278	HP:0000278	Retrognathia	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0000278	HP:0000278	Retrognathia	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	346	24862	601336
HP:0000278	HP:0000278	Retrognathia	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0000278	HP:0000278	Retrognathia	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	75	33778	615345
HP:0000278	HP:0000278	Retrognathia	0	NBN CL E G H	4683	647				ORPHA	1	3074	7652	602667
HP:0000278	HP:0000278	Retrognathia	0	NDUFB11 CL E G H	54539	2556				ORPHA	1	180	20372	300403
HP:0000278	HP:0000278	Retrognathia	0	NFIX CL E G H	4784	561				ORPHA	1	261	7788	164005
HP:0000278	HP:0000278	Retrognathia	0	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	261	7788	164005
HP:0000278	HP:0000278	Retrognathia	0	NSD1 CL E G H	64324	3447				ORPHA	1	1390	14234	606681
HP:0000278	HP:0000278	Retrognathia	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	312	13398	300275
HP:0000278	HP:0000278	Retrognathia	0	ORC1 CL E G H	4998	2554				ORPHA	1	214	8487	601902
HP:0000278	HP:0000278	Retrognathia	0	ORC4 CL E G H	5000	2554				ORPHA	1	166	8490	603056
HP:0000278	HP:0000278	Retrognathia	0	ORC6 CL E G H	23594	2554				ORPHA	1	131	17151	607213
HP:0000278	HP:0000278	Retrognathia	0	OTUD6B CL E G H	51633	505237				ORPHA	1	70	24281	612021
HP:0000278	HP:0000278	Retrognathia	0	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	70	24281	612021
HP:0000278	HP:0000278	Retrognathia	0	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	1	1505	16068	605925
HP:0000278	HP:0000278	Retrognathia	0	PCNT CL E G H	5116	210720	Microcephalic osteodysplastic primordial dwarfism type 2	210720	C0432246	OMIM	1	1505	16068	605925
HP:0000278	HP:0000278	Retrognathia	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	755	26270	613629
HP:0000278	HP:0000278	Retrognathia	0	PLAGL1 CL E G H	5325	96191				ORPHA	1	32	9046	603044
HP:0000278	HP:0000278	Retrognathia	0	POLR1A CL E G H	25885	616462	Acrofacial dysostosis, Cincinnati type	616462	C4225317	OMIM	1	415	17264	616404
HP:0000278	HP:0000278	Retrognathia	0	POLR1C CL E G H	9533	861				ORPHA	1	1267	20194	610060
HP:0000278	HP:0000278	Retrognathia	0	POLR1D CL E G H	51082	861				ORPHA	1	94	20422	613715
HP:0000278	HP:0000278	Retrognathia	0	PREPL CL E G H	9581	163690				ORPHA	1	549	30228	609557
HP:0000278	HP:0000278	Retrognathia	0	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	131	25557	610087
HP:0000278	HP:0000278	Retrognathia	0	PSMD12 CL E G H	5718	617516	Stankiewicz-Isidor syndrome	617516	C4479599	OMIM	1	53	9557	604450
HP:0000278	HP:0000278	Retrognathia	0	RARB CL E G H	5915	615524	Microphthalmia, syndromic 12	615524	C3809803	OMIM	1	97	9865	180220
HP:0000278	HP:0000278	Retrognathia	0	RBBP8 CL E G H	5932	251255	Microcephaly with mental retardation and digital anomalies	251255	C0796063	OMIM	1	237	9891	604124
HP:0000278	HP:0000278	Retrognathia	0	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000278	HP:0000278	Retrognathia	0	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	201	10360	603634
HP:0000278	HP:0000278	Retrognathia	0	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	172	10402	603474
HP:0000278	HP:0000278	Retrognathia	0	RSPO2 CL E G H	340419	618022	HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY	618022	CN248526	OMIM	1	55	28583	610575
HP:0000278	HP:0000278	Retrognathia	0	RYR1 CL E G H	6261	169186				ORPHA	1	5062	10483	180901
HP:0000278	HP:0000278	Retrognathia	0	SF3B4 CL E G H	10262	154400	Nager syndrome	154400	C0265245	OMIM	1	86	10771	605593
HP:0000278	HP:0000278	Retrognathia	0	SKI CL E G H	6497	2462				ORPHA	1	910	10896	164780
HP:0000278	HP:0000278	Retrognathia	0	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	83	20662	608744
HP:0000278	HP:0000278	Retrognathia	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	335	11025	104614
HP:0000278	HP:0000278	Retrognathia	0	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	168	11056	601019
HP:0000278	HP:0000278	Retrognathia	0	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	86	20318	608488
HP:0000278	HP:0000278	Retrognathia	0	SPEG CL E G H	10290	169186				ORPHA	1	907	16901	615950
HP:0000278	HP:0000278	Retrognathia	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	907	16901	615950
HP:0000278	HP:0000278	Retrognathia	0	SUZ12 CL E G H	23512	3447				ORPHA	1	103	17101	606245
HP:0000278	HP:0000278	Retrognathia	0	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000278	HP:0000278	Retrognathia	0	TCOF1 CL E G H	6949	861				ORPHA	1	523	11654	606847
HP:0000278	HP:0000278	Retrognathia	0	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	327	24519	613847
HP:0000278	HP:0000278	Retrognathia	0	TGFB2 CL E G H	7042	614816	Loeys-Dietz syndrome 4	614816	C3553762	OMIM	1	540	11768	190220
HP:0000278	HP:0000278	Retrognathia	0	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	469	11769	190230
HP:0000278	HP:0000278	Retrognathia	0	TGFBR1 CL E G H	7046	609192	Loeys-Dietz syndrome 1	609192	C2697933	OMIM	1	778	11772	190181
HP:0000278	HP:0000278	Retrognathia	0	TGFBR2 CL E G H	7048	610168	Loeys-Dietz syndrome 2	610168	C2674876	OMIM	1	842	11773	190182
HP:0000278	HP:0000278	Retrognathia	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	207	28128	616183
HP:0000278	HP:0000278	Retrognathia	0	TMEM70 CL E G H	54968	1194				ORPHA	1	252	26050	612418
HP:0000278	HP:0000278	Retrognathia	0	TTN CL E G H	7273	169186				ORPHA	1	22859	12403	188840
HP:0000278	HP:0000278	Retrognathia	0	UBE3B CL E G H	89910	2707				ORPHA	1	110	13478	608047
HP:0000278	HP:0000278	Retrognathia	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0000278	HP:0000278	Retrognathia	0	WNT5A CL E G H	7474	3107				ORPHA	1	136	12784	164975
HP:0000278	HP:0000278	Retrognathia	0	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	246	21143	614064
HP:0000278	HP:0000278	Retrognathia	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0000278	HP:0000278	Retrognathia	0	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	110	12309	604500
HP:0000278	HP:0000308	Microretrognathia	1	ABAT CL E G H	18	613163	Gamma-aminobutyric acid transaminase deficiency	613163	C0342708	OMIM	1	605	23	137150
HP:0000278	HP:0000308	Microretrognathia	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0000278	HP:0000308	Microretrognathia	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	406	132	102630
HP:0000278	HP:0000308	Microretrognathia	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	412	144	102560
HP:0000278	HP:0000308	Microretrognathia	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000278	HP:0000308	Microretrognathia	1	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	596	568	607246
HP:0000278	HP:0000308	Microretrognathia	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	123	649	600820
HP:0000278	HP:0000308	Microretrognathia	1	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	227	18037	609539
HP:0000278	HP:0000308	Microretrognathia	1	ARNT2 CL E G H	9915	615926	Webb-Dattani syndrome	615926	C4014708	OMIM	1	111	16876	606036
HP:0000278	HP:0000308	Microretrognathia	1	ASPH CL E G H	444	601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	601552	C1832167	OMIM	1	131	757	600582
HP:0000278	HP:0000308	Microretrognathia	1	ASXL1 CL E G H	171023	97297				ORPHA	1	503	18318	612990
HP:0000278	HP:0000308	Microretrognathia	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0000278	HP:0000308	Microretrognathia	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	232	23805	612991
HP:0000278	HP:0000308	Microretrognathia	1	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1	123	851	607027
HP:0000278	HP:0000308	Microretrognathia	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	228	18802	608918
HP:0000278	HP:0000308	Microretrognathia	1	BCL11A CL E G H	53335	617101	Intellectual developmental disorder with persistence of fetal hemoglobin	617101	C4310833	OMIM	1	154	13221	606557
HP:0000278	HP:0000308	Microretrognathia	1	BIN1 CL E G H	274	169186				ORPHA	1	552	1052	601248
HP:0000278	HP:0000308	Microretrognathia	1	CCBE1 CL E G H	147372	235510	Hennekam lymphangiectasia-lymphedema syndrome	235510	C0340834	OMIM	1	458	29426	612753
HP:0000278	HP:0000308	Microretrognathia	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	528	25523	609736
HP:0000278	HP:0000308	Microretrognathia	1	CDC45 CL E G H	8318	2554				ORPHA	1	567	1739	603465
HP:0000278	HP:0000308	Microretrognathia	1	CDC6 CL E G H	990	2554				ORPHA	1	104	1744	602627
HP:0000278	HP:0000308	Microretrognathia	1	CDT1 CL E G H	81620	2554				ORPHA	1	326	24576	605525
HP:0000278	HP:0000308	Microretrognathia	1	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	438	17272	609279
HP:0000278	HP:0000308	Microretrognathia	1	CEP135 CL E G H	9662	614673	Primary autosomal recessive microcephaly 8	614673	C3553414	OMIM	1	277	29086	611423
HP:0000278	HP:0000308	Microretrognathia	1	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	450	29298	613529
HP:0000278	HP:0000308	Microretrognathia	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	296	18622	606978
HP:0000278	HP:0000308	Microretrognathia	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	397	2190	120350
HP:0000278	HP:0000308	Microretrognathia	1	COL1A1 CL E G H	1277	1899				ORPHA	1	2016	2197	120150
HP:0000278	HP:0000308	Microretrognathia	1	COL1A2 CL E G H	1278	1899				ORPHA	1	1458	2198	120160
HP:0000278	HP:0000308	Microretrognathia	1	COX7B CL E G H	1349	2556				ORPHA	1	173	2291	300885
HP:0000278	HP:0000308	Microretrognathia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0000278	HP:0000308	Microretrognathia	1	CRLF1 CL E G H	9244	272430	Cold-induced sweating syndrome 1	272430	C1848947	OMIM	1	80	2364	604237
HP:0000278	HP:0000308	Microretrognathia	1	CTBP1 CL E G H	1487	617915	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	617915	CN895589	OMIM	1	217	2494	602618
HP:0000278	HP:0000308	Microretrognathia	1	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	173	28005	617057
HP:0000278	HP:0000308	Microretrognathia	1	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000278	HP:0000308	Microretrognathia	1	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000278	HP:0000308	Microretrognathia	1	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000278	HP:0000308	Microretrognathia	1	DHCR24 CL E G H	1718	35107				ORPHA	1	216	2859	606418
HP:0000278	HP:0000308	Microretrognathia	1	DIS3L2 CL E G H	129563	2849				ORPHA	1	1714	28648	614184
HP:0000278	HP:0000308	Microretrognathia	1	DSTYK CL E G H	25778	270750	Spastic paraplegia 23	270750	C0796019	OMIM	1	102	29043	612666
HP:0000278	HP:0000308	Microretrognathia	1	DVL1 CL E G H	1855	3107				ORPHA	1	492	3084	601365
HP:0000278	HP:0000308	Microretrognathia	1	DVL3 CL E G H	1857	3107				ORPHA	1	189	3087	601368
HP:0000278	HP:0000308	Microretrognathia	1	EDN1 CL E G H	1906	615706	Auriculocondylar syndrome 3	615706	C3810332	OMIM	1	52	3176	131240
HP:0000278	HP:0000308	Microretrognathia	1	EED CL E G H	8726	3447				ORPHA	1	97	3188	605984
HP:0000278	HP:0000308	Microretrognathia	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	97	3188	605984
HP:0000278	HP:0000308	Microretrognathia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0000278	HP:0000308	Microretrognathia	1	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	835	3373	602700
HP:0000278	HP:0000308	Microretrognathia	1	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	1196	3434	126340
HP:0000278	HP:0000308	Microretrognathia	1	ERF CL E G H	2077	600775	Lambdoidal craniosynostosis	600775	C1833340	OMIM	1	131	3444	611888
HP:0000278	HP:0000308	Microretrognathia	1	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000278	HP:0000308	Microretrognathia	1	EYA1 CL E G H	2138	602588	Branchiootic syndrome	602588	C1865143	OMIM	1	434	3519	601653
HP:0000278	HP:0000308	Microretrognathia	1	EZH2 CL E G H	2146	3447				ORPHA	1	416	3527	601573
HP:0000278	HP:0000308	Microretrognathia	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	416	3527	601573
HP:0000278	HP:0000308	Microretrognathia	1	FAM20C CL E G H	56975	1832	Diabetes hypogonadism deafness mental retardation			ORPHA	1	350	22140	611061
HP:0000278	HP:0000308	Microretrognathia	1	FBN1 CL E G H	2200	2462				ORPHA	1	5970	3603	134797
HP:0000278	HP:0000308	Microretrognathia	1	FBN1 CL E G H	2200	616914	Marfan lipodystrophy syndrome	616914	C4310796	OMIM	1	5970	3603	134797
HP:0000278	HP:0000308	Microretrognathia	1	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	5970	3603	134797
HP:0000278	HP:0000308	Microretrognathia	1	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	517	3702	300163
HP:0000278	HP:0000308	Microretrognathia	1	FOXE1 CL E G H	2304	1226	Cervical hypertrichosis peripheral neuropathy			ORPHA	1	71	3806	602617
HP:0000278	HP:0000308	Microretrognathia	1	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	449	3823	605515
HP:0000278	HP:0000308	Microretrognathia	1	FRMPD4 CL E G H	9758	300983	Mental retardation, X-linked 104	300983	C4310817	OMIM	1	352	29007	300838
HP:0000278	HP:0000308	Microretrognathia	1	FTO CL E G H	79068	612938	Growth retardation, developmental delay, coarse facies, and early death	612938	C2752001	OMIM	1	199	24678	610966
HP:0000278	HP:0000308	Microretrognathia	1	FUT8 CL E G H	2530	618005	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION	618005	CN248517	OMIM	1	79	4019	602589
HP:0000278	HP:0000308	Microretrognathia	1	FZD2 CL E G H	2535	3107				ORPHA	1	80	4040	600667
HP:0000278	HP:0000308	Microretrognathia	1	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0000278	HP:0000308	Microretrognathia	1	GMNN CL E G H	51053	2554				ORPHA	1	54	17493	602842
HP:0000278	HP:0000308	Microretrognathia	1	HBA1 CL E G H	3039	98791				ORPHA	1	379	4823	141800
HP:0000278	HP:0000308	Microretrognathia	1	HBA2 CL E G H	3040	98791				ORPHA	1	333	4824	141850
HP:0000278	HP:0000308	Microretrognathia	1	HCCS CL E G H	3052	2556				ORPHA	1	218	4837	300056
HP:0000278	HP:0000308	Microretrognathia	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	322	13315	300269
HP:0000278	HP:0000308	Microretrognathia	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0000278	HP:0000308	Microretrognathia	1	HYLS1 CL E G H	219844	2189				ORPHA	1	229	26558	610693
HP:0000278	HP:0000308	Microretrognathia	1	HYMAI CL E G H	57061	96191				ORPHA	1	17	5326	606546
HP:0000278	HP:0000308	Microretrognathia	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0000278	HP:0000308	Microretrognathia	1	IGBP1 CL E G H	3476	52055				ORPHA	1	151	5461	300139
HP:0000278	HP:0000308	Microretrognathia	1	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	151	5461	300139
HP:0000278	HP:0000308	Microretrognathia	1	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	713	5465	147370
HP:0000278	HP:0000308	Microretrognathia	1	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	98	5466	147470
HP:0000278	HP:0000308	Microretrognathia	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	647	37276	614631
HP:0000278	HP:0000308	Microretrognathia	1	ITGA8 CL E G H	8516	191830	Renal adysplasia	191830	C1619700	OMIM	1	158	6144	604063
HP:0000278	HP:0000308	Microretrognathia	1	KAT6B CL E G H	23522	3047				ORPHA	1	605	17582	605880
HP:0000278	HP:0000308	Microretrognathia	1	KIF7 CL E G H	374654	2189				ORPHA	1	977	30497	611254
HP:0000278	HP:0000308	Microretrognathia	1	KLHL7 CL E G H	55975	97297				ORPHA	1	258	15646	611119
HP:0000278	HP:0000308	Microretrognathia	1	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	117	6404	615620
HP:0000278	HP:0000308	Microretrognathia	1	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	243	25726	300964
HP:0000278	HP:0000308	Microretrognathia	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	79	18712	608303
HP:0000278	HP:0000308	Microretrognathia	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	1	1622	6636	150330
HP:0000278	HP:0000308	Microretrognathia	1	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	540	6717	604710
HP:0000278	HP:0000308	Microretrognathia	1	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	620	6814	605283
HP:0000278	HP:0000308	Microretrognathia	1	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	1149	20444	611472
HP:0000278	HP:0000308	Microretrognathia	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	123	7045	602616
HP:0000278	HP:0000308	Microretrognathia	1	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	346	24862	601336
HP:0000278	HP:0000308	Microretrognathia	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	144	14508	605810
HP:0000278	HP:0000308	Microretrognathia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	75	33778	615345
HP:0000278	HP:0000308	Microretrognathia	1	NBN CL E G H	4683	647				ORPHA	1	3074	7652	602667
HP:0000278	HP:0000308	Microretrognathia	1	NDUFB11 CL E G H	54539	2556				ORPHA	1	180	20372	300403
HP:0000278	HP:0000308	Microretrognathia	1	NFIX CL E G H	4784	561				ORPHA	1	261	7788	164005
HP:0000278	HP:0000308	Microretrognathia	1	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	261	7788	164005
HP:0000278	HP:0000308	Microretrognathia	1	NSD1 CL E G H	64324	3447				ORPHA	1	1390	14234	606681
HP:0000278	HP:0000308	Microretrognathia	1	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	312	13398	300275
HP:0000278	HP:0000308	Microretrognathia	1	ORC1 CL E G H	4998	2554				ORPHA	1	214	8487	601902
HP:0000278	HP:0000308	Microretrognathia	1	ORC4 CL E G H	5000	2554				ORPHA	1	166	8490	603056
HP:0000278	HP:0000308	Microretrognathia	1	ORC6 CL E G H	23594	2554				ORPHA	1	131	17151	607213
HP:0000278	HP:0000308	Microretrognathia	1	OTUD6B CL E G H	51633	505237				ORPHA	1	70	24281	612021
HP:0000278	HP:0000308	Microretrognathia	1	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	70	24281	612021
HP:0000278	HP:0000308	Microretrognathia	1	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	1	1505	16068	605925
HP:0000278	HP:0000308	Microretrognathia	1	PCNT CL E G H	5116	210720	Microcephalic osteodysplastic primordial dwarfism type 2	210720	C0432246	OMIM	1	1505	16068	605925
HP:0000278	HP:0000308	Microretrognathia	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	755	26270	613629
HP:0000278	HP:0000308	Microretrognathia	1	PLAGL1 CL E G H	5325	96191				ORPHA	1	32	9046	603044
HP:0000278	HP:0000308	Microretrognathia	1	POLR1A CL E G H	25885	616462	Acrofacial dysostosis, Cincinnati type	616462	C4225317	OMIM	1	415	17264	616404
HP:0000278	HP:0000308	Microretrognathia	1	POLR1C CL E G H	9533	861				ORPHA	1	1267	20194	610060
HP:0000278	HP:0000308	Microretrognathia	1	POLR1D CL E G H	51082	861				ORPHA	1	94	20422	613715
HP:0000278	HP:0000308	Microretrognathia	1	PREPL CL E G H	9581	163690				ORPHA	1	549	30228	609557
HP:0000278	HP:0000308	Microretrognathia	1	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	131	25557	610087
HP:0000278	HP:0000308	Microretrognathia	1	PSMD12 CL E G H	5718	617516	Stankiewicz-Isidor syndrome	617516	C4479599	OMIM	1	53	9557	604450
HP:0000278	HP:0000308	Microretrognathia	1	RARB CL E G H	5915	615524	Microphthalmia, syndromic 12	615524	C3809803	OMIM	1	97	9865	180220
HP:0000278	HP:0000308	Microretrognathia	1	RBBP8 CL E G H	5932	251255	Microcephaly with mental retardation and digital anomalies	251255	C0796063	OMIM	1	237	9891	604124
HP:0000278	HP:0000308	Microretrognathia	1	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000278	HP:0000308	Microretrognathia	1	RPL5 CL E G H	6125	612561	Aase syndrome	612561	C0265265	OMIM	1	201	10360	603634
HP:0000278	HP:0000308	Microretrognathia	1	RPS19 CL E G H	6223	105650	Diamond-Blackfan anemia 1	105650	C2676137	OMIM	1	172	10402	603474
HP:0000278	HP:0000308	Microretrognathia	1	RSPO2 CL E G H	340419	618022	HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY	618022	CN248526	OMIM	1	55	28583	610575
HP:0000278	HP:0000308	Microretrognathia	1	RYR1 CL E G H	6261	169186				ORPHA	1	5062	10483	180901
HP:0000278	HP:0000308	Microretrognathia	1	SF3B4 CL E G H	10262	154400	Nager syndrome	154400	C0265245	OMIM	1	86	10771	605593
HP:0000278	HP:0000308	Microretrognathia	1	SKI CL E G H	6497	2462				ORPHA	1	910	10896	164780
HP:0000278	HP:0000308	Microretrognathia	1	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	83	20662	608744
HP:0000278	HP:0000308	Microretrognathia	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	335	11025	104614
HP:0000278	HP:0000308	Microretrognathia	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	168	11056	601019
HP:0000278	HP:0000308	Microretrognathia	1	SMOC1 CL E G H	64093	206920	Anophthalmos with limb anomalies	206920	C0599973	OMIM	1	86	20318	608488
HP:0000278	HP:0000308	Microretrognathia	1	SPEG CL E G H	10290	169186				ORPHA	1	907	16901	615950
HP:0000278	HP:0000308	Microretrognathia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	907	16901	615950
HP:0000278	HP:0000308	Microretrognathia	1	SUZ12 CL E G H	23512	3447				ORPHA	1	103	17101	606245
HP:0000278	HP:0000308	Microretrognathia	1	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000278	HP:0000308	Microretrognathia	1	TCOF1 CL E G H	6949	861				ORPHA	1	523	11654	606847
HP:0000278	HP:0000308	Microretrognathia	1	TCTN3 CL E G H	26123	2753	Hunter Macpherson syndrome			ORPHA	1	327	24519	613847
HP:0000278	HP:0000308	Microretrognathia	1	TGFB2 CL E G H	7042	614816	Loeys-Dietz syndrome 4	614816	C3553762	OMIM	1	540	11768	190220
HP:0000278	HP:0000308	Microretrognathia	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	469	11769	190230
HP:0000278	HP:0000308	Microretrognathia	1	TGFBR1 CL E G H	7046	609192	Loeys-Dietz syndrome 1	609192	C2697933	OMIM	1	778	11772	190181
HP:0000278	HP:0000308	Microretrognathia	1	TGFBR2 CL E G H	7048	610168	Loeys-Dietz syndrome 2	610168	C2674876	OMIM	1	842	11773	190182
HP:0000278	HP:0000308	Microretrognathia	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	207	28128	616183
HP:0000278	HP:0000308	Microretrognathia	1	TMEM70 CL E G H	54968	1194				ORPHA	1	252	26050	612418
HP:0000278	HP:0000308	Microretrognathia	1	TTN CL E G H	7273	169186				ORPHA	1	22859	12403	188840
HP:0000278	HP:0000308	Microretrognathia	1	UBE3B CL E G H	89910	2707				ORPHA	1	110	13478	608047
HP:0000278	HP:0000308	Microretrognathia	1	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0000278	HP:0000308	Microretrognathia	1	WNT5A CL E G H	7474	3107				ORPHA	1	136	12784	164975
HP:0000278	HP:0000308	Microretrognathia	1	ZBTB24 CL E G H	9841	614069	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	614069	C3279748	OMIM	1	246	21143	614064
HP:0000278	HP:0000308	Microretrognathia	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	237	24931	300897
HP:0000278	HP:0000308	Microretrognathia	1	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	110	12309	604500
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000278	HP:0000278	Retrognathia	0	ACTA2 CL E G H	59	91387				ORPHA	0	428	130	102620
HP:0000278	HP:0000278	Retrognathia	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	0	406	132	102630
HP:0000278	HP:0000278	Retrognathia	0	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	412	144	102560
HP:0000278	HP:0000278	Retrognathia	0	ADAMTS3 CL E G H	9508	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	49	219	605011
HP:0000278	HP:0000278	Retrognathia	0	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	0	236	15672	606941
HP:0000278	HP:0000278	Retrognathia	0	AMER1 CL E G H	139285	2780	Hydronephrosis congenital			ORPHA	0	293	26837	300647
HP:0000278	HP:0000278	Retrognathia	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	143	1071	112262
HP:0000278	HP:0000278	Retrognathia	0	CCBE1 CL E G H	147372	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	458	29426	612753
HP:0000278	HP:0000278	Retrognathia	0	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	315	18621	606977
HP:0000278	HP:0000278	Retrognathia	0	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	0	492	3084	601365
HP:0000278	HP:0000278	Retrognathia	0	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	0	189	3087	601368
HP:0000278	HP:0000278	Retrognathia	0	ELN CL E G H	2006	91387				ORPHA	0	763	3327	130160
HP:0000278	HP:0000278	Retrognathia	0	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	0	689	28957	616846
HP:0000278	HP:0000278	Retrognathia	0	EYA1 CL E G H	2138	107	Pneumonia, eosinophilic			ORPHA	0	434	3519	601653
HP:0000278	HP:0000278	Retrognathia	0	FANCB CL E G H	2187	3412				ORPHA	0	516	3583	300515
HP:0000278	HP:0000278	Retrognathia	0	FAT4 CL E G H	79633	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	1312	23109	612411
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	91387				ORPHA	0	5970	3603	134797
HP:0000278	HP:0000278	Retrognathia	0	FOXE3 CL E G H	2301	91387				ORPHA	0	256	3808	601094
HP:0000278	HP:0000278	Retrognathia	0	GLDN CL E G H	342035	617194	Lethal congenital contracture syndrome 11	617194	C4310670	OMIM	0	85	29514	608603
HP:0000278	HP:0000278	Retrognathia	0	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	99	29239	610621
HP:0000278	HP:0000278	Retrognathia	0	LOX CL E G H	4015	91387				ORPHA	0	272	6664	153455
HP:0000278	HP:0000278	Retrognathia	0	MAT2A CL E G H	4144	91387				ORPHA	0	164	6904	601468
HP:0000278	HP:0000278	Retrognathia	0	MEGF8 CL E G H	1954	614976	Carpenter syndrome 2	614976	C3554247	OMIM	0	486	3233	604267
HP:0000278	HP:0000278	Retrognathia	0	MFAP5 CL E G H	8076	91387				ORPHA	0	186	29673	601103
HP:0000278	HP:0000278	Retrognathia	0	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	0	104	16002	609188
HP:0000278	HP:0000278	Retrognathia	0	MYH11 CL E G H	4629	91387				ORPHA	0	2721	7569	160745
HP:0000278	HP:0000278	Retrognathia	0	MYLK CL E G H	4638	91387				ORPHA	0	1445	7590	600922
HP:0000278	HP:0000278	Retrognathia	0	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	0	519	8923	606879
HP:0000278	HP:0000278	Retrognathia	0	PRKG1 CL E G H	5592	91387				ORPHA	0	526	9414	176894
HP:0000278	HP:0000278	Retrognathia	0	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	0	443	19129	610936
HP:0000278	HP:0000278	Retrognathia	0	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	0	474	10257	602337
HP:0000278	HP:0000278	Retrognathia	0	SETBP1 CL E G H	26040	798				ORPHA	0	804	15573	611060
HP:0000278	HP:0000278	Retrognathia	0	SIX1 CL E G H	6495	107	Pneumonia, eosinophilic			ORPHA	0	157	10887	601205
HP:0000278	HP:0000278	Retrognathia	0	SIX5 CL E G H	147912	107	Pneumonia, eosinophilic			ORPHA	0	149	10891	600963
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	284984				ORPHA	0	834	6769	603109
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	91387				ORPHA	0	834	6769	603109
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	613795	Loeys-Dietz syndrome 3	613795	C3151087	OMIM	0	834	6769	603109
HP:0000278	HP:0000278	Retrognathia	0	TGFB2 CL E G H	7042	91387				ORPHA	0	540	11768	190220
HP:0000278	HP:0000278	Retrognathia	0	TGFB3 CL E G H	7043	91387				ORPHA	0	469	11769	190230
HP:0000278	HP:0000278	Retrognathia	0	TGFBR1 CL E G H	7046	91387				ORPHA	0	778	11772	190181
HP:0000278	HP:0000278	Retrognathia	0	TGFBR2 CL E G H	7048	91387				ORPHA	0	842	11773	190182
HP:0000278	HP:0000278	Retrognathia	0	WNT5A CL E G H	7474	180700	Robinow syndrome	180700	C0265205	OMIM	0	136	12784	164975
HP:0000278	HP:0000308	Microretrognathia	1	ACTA2 CL E G H	59	91387				ORPHA	0	428	130	102620
HP:0000278	HP:0000308	Microretrognathia	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	0	406	132	102630
HP:0000278	HP:0000308	Microretrognathia	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	412	144	102560
HP:0000278	HP:0000308	Microretrognathia	1	ADAMTS3 CL E G H	9508	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	49	219	605011
HP:0000278	HP:0000308	Microretrognathia	1	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	0	236	15672	606941
HP:0000278	HP:0000308	Microretrognathia	1	AMER1 CL E G H	139285	2780	Hydronephrosis congenital			ORPHA	0	293	26837	300647
HP:0000278	HP:0000308	Microretrognathia	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	143	1071	112262
HP:0000278	HP:0000308	Microretrognathia	1	CCBE1 CL E G H	147372	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	458	29426	612753
HP:0000278	HP:0000308	Microretrognathia	1	COG6 CL E G H	57511	614576	Congenital disorder of glycosylation type 2L	614576	C3553230	OMIM	0	315	18621	606977
HP:0000278	HP:0000308	Microretrognathia	1	DVL1 CL E G H	1855	180700	Robinow syndrome	180700	C0265205	OMIM	0	492	3084	601365
HP:0000278	HP:0000308	Microretrognathia	1	DVL3 CL E G H	1857	180700	Robinow syndrome	180700	C0265205	OMIM	0	189	3087	601368
HP:0000278	HP:0000308	Microretrognathia	1	ELN CL E G H	2006	91387				ORPHA	0	763	3327	130160
HP:0000278	HP:0000308	Microretrognathia	1	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	0	689	28957	616846
HP:0000278	HP:0000308	Microretrognathia	1	EYA1 CL E G H	2138	107	Pneumonia, eosinophilic			ORPHA	0	434	3519	601653
HP:0000278	HP:0000308	Microretrognathia	1	FANCB CL E G H	2187	3412				ORPHA	0	516	3583	300515
HP:0000278	HP:0000308	Microretrognathia	1	FAT4 CL E G H	79633	2136	Epidermal nevus vitamin D resistant rickets			ORPHA	0	1312	23109	612411
HP:0000278	HP:0000308	Microretrognathia	1	FBN1 CL E G H	2200	91387				ORPHA	0	5970	3603	134797
HP:0000278	HP:0000308	Microretrognathia	1	FOXE3 CL E G H	2301	91387				ORPHA	0	256	3808	601094
HP:0000278	HP:0000308	Microretrognathia	1	GLDN CL E G H	342035	617194	Lethal congenital contracture syndrome 11	617194	C4310670	OMIM	0	85	29514	608603
HP:0000278	HP:0000308	Microretrognathia	1	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	99	29239	610621
HP:0000278	HP:0000308	Microretrognathia	1	LOX CL E G H	4015	91387				ORPHA	0	272	6664	153455
HP:0000278	HP:0000308	Microretrognathia	1	MAT2A CL E G H	4144	91387				ORPHA	0	164	6904	601468
HP:0000278	HP:0000308	Microretrognathia	1	MEGF8 CL E G H	1954	614976	Carpenter syndrome 2	614976	C3554247	OMIM	0	486	3233	604267
HP:0000278	HP:0000308	Microretrognathia	1	MFAP5 CL E G H	8076	91387				ORPHA	0	186	29673	601103
HP:0000278	HP:0000308	Microretrognathia	1	MPLKIP CL E G H	136647	234050	Trichothiodystrophy, nonphotosensitive 1	234050	C1961117	OMIM	0	104	16002	609188
HP:0000278	HP:0000308	Microretrognathia	1	MYH11 CL E G H	4629	91387				ORPHA	0	2721	7569	160745
HP:0000278	HP:0000308	Microretrognathia	1	MYLK CL E G H	4638	91387				ORPHA	0	1445	7590	600922
HP:0000278	HP:0000308	Microretrognathia	1	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	0	519	8923	606879
HP:0000278	HP:0000308	Microretrognathia	1	PRKG1 CL E G H	5592	91387				ORPHA	0	526	9414	176894
HP:0000278	HP:0000308	Microretrognathia	1	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	0	443	19129	610936
HP:0000278	HP:0000308	Microretrognathia	1	ROR2 CL E G H	4920	268310	Robinow syndrome, autosomal recessive	268310	C1849334	OMIM	0	474	10257	602337
HP:0000278	HP:0000308	Microretrognathia	1	SETBP1 CL E G H	26040	798				ORPHA	0	804	15573	611060
HP:0000278	HP:0000308	Microretrognathia	1	SIX1 CL E G H	6495	107	Pneumonia, eosinophilic			ORPHA	0	157	10887	601205
HP:0000278	HP:0000308	Microretrognathia	1	SIX5 CL E G H	147912	107	Pneumonia, eosinophilic			ORPHA	0	149	10891	600963
HP:0000278	HP:0000308	Microretrognathia	1	SMAD3 CL E G H	4088	284984				ORPHA	0	834	6769	603109
HP:0000278	HP:0000308	Microretrognathia	1	SMAD3 CL E G H	4088	91387				ORPHA	0	834	6769	603109
HP:0000278	HP:0000308	Microretrognathia	1	SMAD3 CL E G H	4088	613795	Loeys-Dietz syndrome 3	613795	C3151087	OMIM	0	834	6769	603109
HP:0000278	HP:0000308	Microretrognathia	1	TGFB2 CL E G H	7042	91387				ORPHA	0	540	11768	190220
HP:0000278	HP:0000308	Microretrognathia	1	TGFB3 CL E G H	7043	91387				ORPHA	0	469	11769	190230
HP:0000278	HP:0000308	Microretrognathia	1	TGFBR1 CL E G H	7046	91387				ORPHA	0	778	11772	190181
HP:0000278	HP:0000308	Microretrognathia	1	TGFBR2 CL E G H	7048	91387				ORPHA	0	842	11773	190182
HP:0000278	HP:0000308	Microretrognathia	1	WNT5A CL E G H	7474	180700	Robinow syndrome	180700	C0265205	OMIM	0	136	12784	164975