Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000278	HP:0000278	Retrognathia	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000278	HP:0000278	Retrognathia	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0000278	HP:0000278	Retrognathia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0000278	HP:0000278	Retrognathia	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0000278	HP:0000278	Retrognathia	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0000278	HP:0000278	Retrognathia	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional		72
HP:0000278	HP:0000278	Retrognathia	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0000278	HP:0000278	Retrognathia	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	HP:0040283 - Occasional		123
HP:0000278	HP:0000278	Retrognathia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		165
HP:0000278	HP:0000278	Retrognathia	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0000278	HP:0000278	Retrognathia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040282 - Frequent		72
HP:0000278	HP:0000278	Retrognathia	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000278	HP:0000278	Retrognathia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0000278	HP:0000278	Retrognathia	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000278	HP:0000278	Retrognathia	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000278	HP:0000278	Retrognathia	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000278	HP:0000278	Retrognathia	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0000278	HP:0000278	Retrognathia	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000278	HP:0000278	Retrognathia	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0000278	HP:0000278	Retrognathia	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000278	HP:0000278	Retrognathia	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000278	HP:0000278	Retrognathia	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.		4
HP:0000278	HP:0000278	Retrognathia	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000278	HP:0000278	Retrognathia	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional		145
HP:0000278	HP:0000278	Retrognathia	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0000278	HP:0000278	Retrognathia	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000278	HP:0000278	Retrognathia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000278	HP:0000278	Retrognathia	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000278	HP:0000278	Retrognathia	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0000278	HP:0000278	Retrognathia	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0000278	HP:0000278	Retrognathia	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0000278	HP:0000278	Retrognathia	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000278	HP:0000278	Retrognathia	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0000278	HP:0000278	Retrognathia	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000278	HP:0000278	Retrognathia	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0000278	HP:0000278	Retrognathia	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent		314
HP:0000278	HP:0000278	Retrognathia	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000278	HP:0000278	Retrognathia	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare		22
HP:0000278	HP:0000278	Retrognathia	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0000278	HP:0000278	Retrognathia	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0000278	HP:0000278	Retrognathia	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0000278	HP:0000278	Retrognathia	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0000278	HP:0000278	Retrognathia	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000278	HP:0000278	Retrognathia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000278	HP:0000278	Retrognathia	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000278	HP:0000278	Retrognathia	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0000278	HP:0000278	Retrognathia	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0000278	HP:0000278	Retrognathia	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0000278	HP:0000278	Retrognathia	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0000278	HP:0000278	Retrognathia	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0000278	HP:0000278	Retrognathia	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.		161
HP:0000278	HP:0000278	Retrognathia	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly			7
HP:0000278	HP:0000278	Retrognathia	0	CEP135 CL E G H	9662	29086	OMIM:614673	Microcephaly 8, primary, autosomal recessive	.		38
HP:0000278	HP:0000278	Retrognathia	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5			146
HP:0000278	HP:0000278	Retrognathia	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000278	HP:0000278	Retrognathia	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000278	HP:0000278	Retrognathia	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000278	HP:0000278	Retrognathia	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000278	HP:0000278	Retrognathia	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000278	HP:0000278	Retrognathia	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000278	HP:0000278	Retrognathia	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0000278	HP:0000278	Retrognathia	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0000278	HP:0000278	Retrognathia	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000278	HP:0000278	Retrognathia	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0000278	HP:0000278	Retrognathia	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000278	HP:0000278	Retrognathia	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0000278	HP:0000278	Retrognathia	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040282 - Frequent		243
HP:0000278	HP:0000278	Retrognathia	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0000278	HP:0000278	Retrognathia	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0000278	HP:0000278	Retrognathia	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0000278	HP:0000278	Retrognathia	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000278	HP:0000278	Retrognathia	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1	.		291
HP:0000278	HP:0000278	Retrognathia	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0000278	HP:0000278	Retrognathia	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0000278	HP:0000278	Retrognathia	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0000278	HP:0000278	Retrognathia	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000278	HP:0000278	Retrognathia	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.		2
HP:0000278	HP:0000278	Retrognathia	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0000278	HP:0000278	Retrognathia	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0000278	HP:0000278	Retrognathia	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000278	HP:0000278	Retrognathia	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0000278	HP:0000278	Retrognathia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000278	HP:0000278	Retrognathia	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0000278	HP:0000278	Retrognathia	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000278	HP:0000278	Retrognathia	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000278	HP:0000278	Retrognathia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000278	HP:0000278	Retrognathia	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000278	HP:0000278	Retrognathia	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0000278	HP:0000278	Retrognathia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0000278	HP:0000278	Retrognathia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000278	HP:0000278	Retrognathia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0000278	HP:0000278	Retrognathia	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0000278	HP:0000278	Retrognathia	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0000278	HP:0000278	Retrognathia	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000278	HP:0000278	Retrognathia	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.		6
HP:0000278	HP:0000278	Retrognathia	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0000278	HP:0000278	Retrognathia	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000278	HP:0000278	Retrognathia	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies			4
HP:0000278	HP:0000278	Retrognathia	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0000278	HP:0000278	Retrognathia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000278	HP:0000278	Retrognathia	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent		5
HP:0000278	HP:0000278	Retrognathia	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1	.		250
HP:0000278	HP:0000278	Retrognathia	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.		250
HP:0000278	HP:0000278	Retrognathia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000278	HP:0000278	Retrognathia	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000278	HP:0000278	Retrognathia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000278	HP:0000278	Retrognathia	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.		12
HP:0000278	HP:0000278	Retrognathia	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000278	HP:0000278	Retrognathia	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000278	HP:0000278	Retrognathia	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000278	HP:0000278	Retrognathia	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		135
HP:0000278	HP:0000278	Retrognathia	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.		135
HP:0000278	HP:0000278	Retrognathia	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000278	HP:0000278	Retrognathia	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000278	HP:0000278	Retrognathia	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0000278	HP:0000278	Retrognathia	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0000278	HP:0000278	Retrognathia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0000278	HP:0000278	Retrognathia	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0000278	HP:0000278	Retrognathia	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		1361
HP:0000278	HP:0000278	Retrognathia	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0000278	HP:0000278	Retrognathia	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45			8
HP:0000278	HP:0000278	Retrognathia	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000278	HP:0000278	Retrognathia	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000278	HP:0000278	Retrognathia	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0000278	HP:0000278	Retrognathia	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0000278	HP:0000278	Retrognathia	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0000278	HP:0000278	Retrognathia	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0000278	HP:0000278	Retrognathia	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0000278	HP:0000278	Retrognathia	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0000278	HP:0000278	Retrognathia	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0000278	HP:0000278	Retrognathia	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0000278	HP:0000278	Retrognathia	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0000278	HP:0000278	Retrognathia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000278	HP:0000278	Retrognathia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000278	HP:0000278	Retrognathia	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000278	HP:0000278	Retrognathia	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	HP:0040283 - Occasional		6
HP:0000278	HP:0000278	Retrognathia	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0000278	HP:0000278	Retrognathia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0000278	HP:0000278	Retrognathia	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0000278	HP:0000278	Retrognathia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000278	HP:0000278	Retrognathia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000278	HP:0000278	Retrognathia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000278	HP:0000278	Retrognathia	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000278	HP:0000278	Retrognathia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000278	HP:0000278	Retrognathia	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		200
HP:0000278	HP:0000278	Retrognathia	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent		88
HP:0000278	HP:0000278	Retrognathia	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0000278	HP:0000278	Retrognathia	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5	.		37
HP:0000278	HP:0000278	Retrognathia	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0000278	HP:0000278	Retrognathia	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000278	HP:0000278	Retrognathia	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000278	HP:0000278	Retrognathia	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000278	HP:0000278	Retrognathia	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000278	HP:0000278	Retrognathia	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0000278	HP:0000278	Retrognathia	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000278	HP:0000278	Retrognathia	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000278	HP:0000278	Retrognathia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000278	HP:0000278	Retrognathia	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040281 - Very frequent		5
HP:0000278	HP:0000278	Retrognathia	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000278	HP:0000278	Retrognathia	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000278	HP:0000278	Retrognathia	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0000278	HP:0000278	Retrognathia	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000278	HP:0000278	Retrognathia	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000278	HP:0000278	Retrognathia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000278	HP:0000278	Retrognathia	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.		4
HP:0000278	HP:0000278	Retrognathia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000278	HP:0000278	Retrognathia	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000278	HP:0000278	Retrognathia	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent		141
HP:0000278	HP:0000278	Retrognathia	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0000278	HP:0000278	Retrognathia	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000278	HP:0000278	Retrognathia	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000278	HP:0000278	Retrognathia	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000278	HP:0000278	Retrognathia	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0000278	HP:0000278	Retrognathia	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000278	HP:0000278	Retrognathia	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0000278	HP:0000278	Retrognathia	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41	.		13
HP:0000278	HP:0000278	Retrognathia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0000278	HP:0000278	Retrognathia	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0000278	HP:0000278	Retrognathia	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0000278	HP:0000278	Retrognathia	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0000278	HP:0000278	Retrognathia	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0000278	HP:0000278	Retrognathia	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0000278	HP:0000278	Retrognathia	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0000278	HP:0000278	Retrognathia	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000278	HP:0000278	Retrognathia	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0000278	HP:0000278	Retrognathia	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional		5
HP:0000278	HP:0000278	Retrognathia	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000278	HP:0000278	Retrognathia	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0000278	HP:0000278	Retrognathia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000278	HP:0000278	Retrognathia	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000278	HP:0000278	Retrognathia	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000278	HP:0000278	Retrognathia	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000278	HP:0000278	Retrognathia	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0000278	HP:0000278	Retrognathia	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000278	HP:0000278	Retrognathia	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0000278	HP:0000278	Retrognathia	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0000278	HP:0000278	Retrognathia	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000278	HP:0000278	Retrognathia	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0000278	HP:0000278	Retrognathia	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040282 - Frequent		37
HP:0000278	HP:0000278	Retrognathia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000278	HP:0000278	Retrognathia	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0000278	HP:0000278	Retrognathia	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0000278	HP:0000278	Retrognathia	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000278	HP:0000278	Retrognathia	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional		185
HP:0000278	HP:0000278	Retrognathia	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0000278	HP:0000278	Retrognathia	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0000278	HP:0000278	Retrognathia	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000278	HP:0000278	Retrognathia	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0000278	HP:0000278	Retrognathia	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0000278	HP:0000278	Retrognathia	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000278	HP:0000278	Retrognathia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000278	HP:0000278	Retrognathia	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000278	HP:0000278	Retrognathia	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000278	HP:0000278	Retrognathia	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0000278	HP:0000278	Retrognathia	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0000278	HP:0000278	Retrognathia	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0000278	HP:0000278	Retrognathia	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0000278	HP:0000278	Retrognathia	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent		40
HP:0000278	HP:0000278	Retrognathia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000278	HP:0000278	Retrognathia	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000278	HP:0000278	Retrognathia	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000278	HP:0000278	Retrognathia	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome			34
HP:0000278	HP:0000278	Retrognathia	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0000278	HP:0000278	Retrognathia	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0000278	HP:0000278	Retrognathia	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0000278	HP:0000278	Retrognathia	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0000278	HP:0000278	Retrognathia	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0000278	HP:0000278	Retrognathia	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000278	HP:0000278	Retrognathia	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0000278	HP:0000278	Retrognathia	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000278	HP:0000278	Retrognathia	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0000278	HP:0000278	Retrognathia	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0000278	HP:0000278	Retrognathia	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0000278	HP:0000278	Retrognathia	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0000278	HP:0000278	Retrognathia	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000278	HP:0000278	Retrognathia	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000278	HP:0000278	Retrognathia	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000278	HP:0000278	Retrognathia	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000278	HP:0000278	Retrognathia	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent		531
HP:0000278	HP:0000278	Retrognathia	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.		531
HP:0000278	HP:0000278	Retrognathia	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0000278	HP:0000278	Retrognathia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000278	HP:0000278	Retrognathia	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0000278	HP:0000278	Retrognathia	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000278	HP:0000278	Retrognathia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0000278	HP:0000278	Retrognathia	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0000278	HP:0000278	Retrognathia	0	POLA1 CL E G H	5422	9173	ORPHA:163976	X-linked intellectual disability, Van Esch type	HP:0040281 - Very frequent		2
HP:0000278	HP:0000278	Retrognathia	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.		8
HP:0000278	HP:0000278	Retrognathia	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0000278	HP:0000278	Retrognathia	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		38
HP:0000278	HP:0000278	Retrognathia	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000278	HP:0000278	Retrognathia	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		31
HP:0000278	HP:0000278	Retrognathia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000278	HP:0000278	Retrognathia	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000278	HP:0000278	Retrognathia	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent		7
HP:0000278	HP:0000278	Retrognathia	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0000278	HP:0000278	Retrognathia	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0000278	HP:0000278	Retrognathia	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0000278	HP:0000278	Retrognathia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000278	HP:0000278	Retrognathia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000278	HP:0000278	Retrognathia	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000278	HP:0000278	Retrognathia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000278	HP:0000278	Retrognathia	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000278	HP:0000278	Retrognathia	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000278	HP:0000278	Retrognathia	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	.		9
HP:0000278	HP:0000278	Retrognathia	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome	.		68
HP:0000278	HP:0000278	Retrognathia	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0000278	HP:0000278	Retrognathia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000278	HP:0000278	Retrognathia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0000278	HP:0000278	Retrognathia	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000278	HP:0000278	Retrognathia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000278	HP:0000278	Retrognathia	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000278	HP:0000278	Retrognathia	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0000278	HP:0000278	Retrognathia	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0000278	HP:0000278	Retrognathia	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0000278	HP:0000278	Retrognathia	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000278	HP:0000278	Retrognathia	0	RSRC1 CL E G H	51319	24152	OMIM:618402	Intellectual developmental disorder, autosomal recessive 70	.		2
HP:0000278	HP:0000278	Retrognathia	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000278	HP:0000278	Retrognathia	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000278	HP:0000278	Retrognathia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000278	HP:0000278	Retrognathia	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0000278	HP:0000278	Retrognathia	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000278	HP:0000278	Retrognathia	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0000278	HP:0000278	Retrognathia	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0000278	HP:0000278	Retrognathia	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0000278	HP:0000278	Retrognathia	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0000278	HP:0000278	Retrognathia	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000278	HP:0000278	Retrognathia	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type			49
HP:0000278	HP:0000278	Retrognathia	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0000278	HP:0000278	Retrognathia	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000278	HP:0000278	Retrognathia	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		50
HP:0000278	HP:0000278	Retrognathia	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		10
HP:0000278	HP:0000278	Retrognathia	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent		150
HP:0000278	HP:0000278	Retrognathia	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0000278	HP:0000278	Retrognathia	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000278	HP:0000278	Retrognathia	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000278	HP:0000278	Retrognathia	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000278	HP:0000278	Retrognathia	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0000278	HP:0000278	Retrognathia	0	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures			2
HP:0000278	HP:0000278	Retrognathia	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040282 - Frequent		55
HP:0000278	HP:0000278	Retrognathia	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000278	HP:0000278	Retrognathia	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0000278	HP:0000278	Retrognathia	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0000278	HP:0000278	Retrognathia	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0000278	HP:0000278	Retrognathia	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0000278	HP:0000278	Retrognathia	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000278	HP:0000278	Retrognathia	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0000278	HP:0000278	Retrognathia	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000278	HP:0000278	Retrognathia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000278	HP:0000278	Retrognathia	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional		19
HP:0000278	HP:0000278	Retrognathia	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0000278	HP:0000278	Retrognathia	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0000278	HP:0000278	Retrognathia	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000278	HP:0000278	Retrognathia	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000278	HP:0000278	Retrognathia	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000278	HP:0000278	Retrognathia	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000278	HP:0000278	Retrognathia	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000278	HP:0000278	Retrognathia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000278	HP:0000278	Retrognathia	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000278	HP:0000278	Retrognathia	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0000278	HP:0000278	Retrognathia	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		140
HP:0000278	HP:0000278	Retrognathia	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0000278	HP:0000278	Retrognathia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000278	HP:0000278	Retrognathia	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000278	HP:0000278	Retrognathia	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0000278	HP:0000278	Retrognathia	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0000278	HP:0000278	Retrognathia	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0000278	HP:0000278	Retrognathia	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000278	HP:0000278	Retrognathia	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0000278	HP:0000278	Retrognathia	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0000278	HP:0000278	Retrognathia	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0000278	HP:0000278	Retrognathia	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0000278	HP:0000278	Retrognathia	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent		1
HP:0000278	HP:0000278	Retrognathia	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.		4
HP:0000278	HP:0000278	Retrognathia	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000278	HP:0000278	Retrognathia	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0000278	HP:0000278	Retrognathia	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000278	HP:0000278	Retrognathia	0	TPM2 CL E G H	7169	12011	OMIM:108120	Arthrogryposis, distal, type 1A	.		54
HP:0000278	HP:0000278	Retrognathia	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000278	HP:0000278	Retrognathia	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional		133
HP:0000278	HP:0000278	Retrognathia	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0000278	HP:0000278	Retrognathia	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0000278	HP:0000278	Retrognathia	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0000278	HP:0000278	Retrognathia	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000278	HP:0000278	Retrognathia	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000278	HP:0000278	Retrognathia	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0000278	HP:0000278	Retrognathia	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040281 - Very frequent		13
HP:0000278	HP:0000278	Retrognathia	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000278	HP:0000278	Retrognathia	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000278	HP:0000278	Retrognathia	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000278	HP:0000278	Retrognathia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0000278	HP:0000278	Retrognathia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0000278	HP:0000278	Retrognathia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000278	HP:0000278	Retrognathia	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000278	HP:0000278	Retrognathia	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.		9
HP:0000278	HP:0000278	Retrognathia	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000278	HP:0000278	Retrognathia	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000278	HP:0000278	Retrognathia	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0000278	HP:0000278	Retrognathia	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000278	HP:0000278	Retrognathia	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000278	HP:0000308	Microretrognathia	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000278	HP:0000308	Microretrognathia	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0000278	HP:0000308	Microretrognathia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000278	HP:0000308	Microretrognathia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000278	HP:0000308	Microretrognathia	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0000278	HP:0000308	Microretrognathia	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0000278	HP:0000308	Microretrognathia	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0000278	HP:0000308	Microretrognathia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0000278	HP:0000308	Microretrognathia	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000278	HP:0000308	Microretrognathia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.		7
HP:0000278	HP:0000308	Microretrognathia	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0000278	HP:0000308	Microretrognathia	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000278	HP:0000308	Microretrognathia	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	HP:0003593 - Infantile onset	27
HP:0000278	HP:0000308	Microretrognathia	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		27
HP:0000278	HP:0000308	Microretrognathia	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0000278	HP:0000308	Microretrognathia	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000278	HP:0000308	Microretrognathia	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0000278	HP:0000308	Microretrognathia	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0000278	HP:0000308	Microretrognathia	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.		4
HP:0000278	HP:0000308	Microretrognathia	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000278	HP:0000308	Microretrognathia	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		15
HP:0000278	HP:0000308	Microretrognathia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000278	HP:0000308	Microretrognathia	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent		13
HP:0000278	HP:0000308	Microretrognathia	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0000278	HP:0000308	Microretrognathia	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0000278	HP:0000308	Microretrognathia	1	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000278	HP:0000308	Microretrognathia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000278	HP:0000308	Microretrognathia	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0000278	HP:0000308	Microretrognathia	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0000278	HP:0000308	Microretrognathia	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000278	HP:0000308	Microretrognathia	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000278	HP:0000308	Microretrognathia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0000278	HP:0000308	Microretrognathia	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0000278	HP:0000308	Microretrognathia	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0000278	HP:0000308	Microretrognathia	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000278	HP:0000308	Microretrognathia	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000278	HP:0000308	Microretrognathia	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0000278	HP:0000308	Microretrognathia	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0000278	HP:0000308	Microretrognathia	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		1269
HP:0000278	HP:0000308	Microretrognathia	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000278	HP:0000308	Microretrognathia	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0000278	HP:0000308	Microretrognathia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000278	HP:0000308	Microretrognathia	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0000278	HP:0000308	Microretrognathia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000278	HP:0000308	Microretrognathia	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent		34
HP:0000278	HP:0000308	Microretrognathia	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0000278	HP:0000308	Microretrognathia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000278	HP:0000308	Microretrognathia	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0000278	HP:0000308	Microretrognathia	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0000278	HP:0000308	Microretrognathia	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0000278	HP:0000308	Microretrognathia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000278	HP:0000308	Microretrognathia	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2			31
HP:0000278	HP:0000308	Microretrognathia	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0000278	HP:0000308	Microretrognathia	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000278	HP:0000308	Microretrognathia	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0000278	HP:0000308	Microretrognathia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0000278	HP:0000308	Microretrognathia	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0000278	HP:0000308	Microretrognathia	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000278	HP:0000308	Microretrognathia	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000278	HP:0000308	Microretrognathia	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000278	HP:0000308	Microretrognathia	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000278	HP:0000308	Microretrognathia	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0000278	HP:0000308	Microretrognathia	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		144
HP:0000278	HP:0000308	Microretrognathia	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent		6
HP:0000278	HP:0000308	Microretrognathia	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent		49
HP:0000278	HP:0000308	Microretrognathia	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.		9
HP:0000278	HP:0000308	Microretrognathia	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0000278	HP:0000308	Microretrognathia	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000278	HP:0000308	Microretrognathia	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000278	HP:0000308	Microretrognathia	1	SLC35A3 CL E G H	23443	11023	OMIM:615553	Arthrogryposis, mental retardation, and seizures	.		2
HP:0000278	HP:0000308	Microretrognathia	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000278	HP:0000308	Microretrognathia	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000278	HP:0000308	Microretrognathia	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000278	HP:0000308	Microretrognathia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000278	HP:0000308	Microretrognathia	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000278	HP:0000308	Microretrognathia	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0000278	HP:0000308	Microretrognathia	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0000278	HP:0000308	Microretrognathia	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0000278	HP:0000308	Microretrognathia	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		7128
HP:0000278	HP:0000308	Microretrognathia	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0000278	HP:0000308	Microretrognathia	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0000278	HP:0000308	Microretrognathia	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000278	HP:0000308	Microretrognathia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000278	HP:0000308	Microretrognathia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19