Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormal morphology of the nasal alae (HP:0000429)

Parent Node:
Abnormal nasal morphology (HP:0005105)

Parent Node:
Abnormal nostril morphology (HP:0005288)

..Starting node
..Anteverted nares (HP:0000463)

Term ID:

463

Name:

Anteverted nares

Synonym:

Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nasal tips; Upturned nose; Upturned nostrils

Definition:

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Comments:

Reference:

HP:0000463

Genes and Diseases:

Child Nodes:

........

Broad nasal tip (HP:0000455)

........

Thin anteverted nares (HP:0004495)

Sister Nodes:

Absent nares (HP:0100596)

Asymmetry of the nares (HP:0009930)

Enlarged naris (HP:0009931)

Narrow naris (HP:0009933)

Single naris (HP:0009932)

Supernumerary naris (HP:0009934)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000463	HP:0000463	Anteverted nares	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0000463	HP:0000463	Anteverted nares	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0000463	HP:0000463	Anteverted nares	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000463	HP:0000463	Anteverted nares	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0000463	HP:0000463	Anteverted nares	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0000463	HP:0000463	Anteverted nares	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000463	HP:0000463	Anteverted nares	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0000463	HP:0000463	Anteverted nares	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0000463	HP:0000463	Anteverted nares	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0000463	HP:0000463	Anteverted nares	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0000463	HP:0000463	Anteverted nares	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000463	HP:0000463	Anteverted nares	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0000463	HP:0000463	Anteverted nares	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0000463	HP:0000463	Anteverted nares	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0000463	HP:0000463	Anteverted nares	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040281 - Very frequent	6
HP:0000463	HP:0000463	Anteverted nares	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000463	HP:0000463	Anteverted nares	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000463	HP:0000463	Anteverted nares	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0000463	HP:0000463	Anteverted nares	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000463	HP:0000463	Anteverted nares	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0000463	HP:0000463	Anteverted nares	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040283 - Occasional	60
HP:0000463	HP:0000463	Anteverted nares	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000463	HP:0000463	Anteverted nares	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0000463	HP:0000463	Anteverted nares	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000463	HP:0000463	Anteverted nares	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0000463	HP:0000463	Anteverted nares	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0000463	HP:0000463	Anteverted nares	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0000463	HP:0000463	Anteverted nares	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0000463	HP:0000463	Anteverted nares	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0000463	HP:0000463	Anteverted nares	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000463	HP:0000463	Anteverted nares	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000463	HP:0000463	Anteverted nares	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000463	HP:0000463	Anteverted nares	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000463	HP:0000463	Anteverted nares	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0000463	HP:0000463	Anteverted nares	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0000463	HP:0000463	Anteverted nares	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0000463	HP:0000463	Anteverted nares	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0000463	HP:0000463	Anteverted nares	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0000463	HP:0000463	Anteverted nares	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000463	HP:0000463	Anteverted nares	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000463	HP:0000463	Anteverted nares	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0000463	HP:0000463	Anteverted nares	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0000463	HP:0000463	Anteverted nares	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000463	HP:0000463	Anteverted nares	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0000463	HP:0000463	Anteverted nares	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0000463	HP:0000463	Anteverted nares	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0000463	HP:0000463	Anteverted nares	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000463	HP:0000463	Anteverted nares	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0000463	HP:0000463	Anteverted nares	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0000463	HP:0000463	Anteverted nares	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000463	HP:0000463	Anteverted nares	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000463	HP:0000463	Anteverted nares	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000463	HP:0000463	Anteverted nares	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0000463	HP:0000463	Anteverted nares	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000463	HP:0000463	Anteverted nares	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000463	HP:0000463	Anteverted nares	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0000463	HP:0000463	Anteverted nares	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0000463	HP:0000463	Anteverted nares	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000463	HP:0000463	Anteverted nares	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000463	HP:0000463	Anteverted nares	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000463	HP:0000463	Anteverted nares	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000463	HP:0000463	Anteverted nares	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0000463	HP:0000463	Anteverted nares	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0000463	HP:0000463	Anteverted nares	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0000463	HP:0000463	Anteverted nares	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0000463	HP:0000463	Anteverted nares	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000463	HP:0000463	Anteverted nares	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0000463	HP:0000463	Anteverted nares	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000463	HP:0000463	Anteverted nares	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0000463	HP:0000463	Anteverted nares	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0000463	HP:0000463	Anteverted nares	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0000463	HP:0000463	Anteverted nares	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0000463	HP:0000463	Anteverted nares	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000463	HP:0000463	Anteverted nares	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0000463	HP:0000463	Anteverted nares	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000463	HP:0000463	Anteverted nares	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000463	HP:0000463	Anteverted nares	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0000463	HP:0000463	Anteverted nares	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0000463	HP:0000463	Anteverted nares	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0000463	HP:0000463	Anteverted nares	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	247
HP:0000463	HP:0000463	Anteverted nares	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0000463	HP:0000463	Anteverted nares	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0000463	HP:0000463	Anteverted nares	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0000463	HP:0000463	Anteverted nares	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000463	HP:0000463	Anteverted nares	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000463	HP:0000463	Anteverted nares	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0000463	HP:0000463	Anteverted nares	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0000463	HP:0000463	Anteverted nares	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0000463	HP:0000463	Anteverted nares	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000463	HP:0000463	Anteverted nares	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000463	HP:0000463	Anteverted nares	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000463	HP:0000463	Anteverted nares	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000463	HP:0000463	Anteverted nares	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	342
HP:0000463	HP:0000463	Anteverted nares	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000463	HP:0000463	Anteverted nares	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000463	HP:0000463	Anteverted nares	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0000463	HP:0000463	Anteverted nares	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0000463	HP:0000463	Anteverted nares	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000463	HP:0000463	Anteverted nares	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0000463	HP:0000463	Anteverted nares	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0000463	HP:0000463	Anteverted nares	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0000463	HP:0000463	Anteverted nares	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0000463	HP:0000463	Anteverted nares	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0000463	HP:0000463	Anteverted nares	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0000463	HP:0000463	Anteverted nares	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0000463	HP:0000463	Anteverted nares	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0000463	HP:0000463	Anteverted nares	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000463	HP:0000463	Anteverted nares	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0000463	HP:0000463	Anteverted nares	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0000463	HP:0000463	Anteverted nares	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000463	HP:0000463	Anteverted nares	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000463	HP:0000463	Anteverted nares	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000463	HP:0000463	Anteverted nares	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0000463	HP:0000463	Anteverted nares	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0000463	HP:0000463	Anteverted nares	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000463	HP:0000463	Anteverted nares	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000463	HP:0000463	Anteverted nares	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	222
HP:0000463	HP:0000463	Anteverted nares	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0000463	HP:0000463	Anteverted nares	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0000463	HP:0000463	Anteverted nares	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000463	HP:0000463	Anteverted nares	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0000463	HP:0000463	Anteverted nares	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000463	HP:0000463	Anteverted nares	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0000463	HP:0000463	Anteverted nares	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0000463	HP:0000463	Anteverted nares	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000463	HP:0000463	Anteverted nares	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0000463	HP:0000463	Anteverted nares	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000463	HP:0000463	Anteverted nares	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0000463	HP:0000463	Anteverted nares	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0000463	HP:0000463	Anteverted nares	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0000463	HP:0000463	Anteverted nares	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000463	HP:0000463	Anteverted nares	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0000463	HP:0000463	Anteverted nares	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000463	HP:0000463	Anteverted nares	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0000463	HP:0000463	Anteverted nares	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0000463	HP:0000463	Anteverted nares	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0000463	HP:0000463	Anteverted nares	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0000463	HP:0000463	Anteverted nares	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0000463	HP:0000463	Anteverted nares	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000463	HP:0000463	Anteverted nares	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0000463	HP:0000463	Anteverted nares	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0000463	HP:0000463	Anteverted nares	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0000463	HP:0000463	Anteverted nares	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0000463	HP:0000463	Anteverted nares	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000463	HP:0000463	Anteverted nares	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000463	HP:0000463	Anteverted nares	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0000463	HP:0000463	Anteverted nares	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0000463	HP:0000463	Anteverted nares	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0000463	HP:0000463	Anteverted nares	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0000463	HP:0000463	Anteverted nares	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0000463	HP:0000463	Anteverted nares	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000463	HP:0000463	Anteverted nares	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0000463	HP:0000463	Anteverted nares	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0000463	HP:0000463	Anteverted nares	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0000463	HP:0000463	Anteverted nares	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0000463	HP:0000463	Anteverted nares	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0000463	HP:0000463	Anteverted nares	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000463	HP:0000463	Anteverted nares	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0000463	HP:0000463	Anteverted nares	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000463	HP:0000463	Anteverted nares	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000463	HP:0000463	Anteverted nares	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0000463	HP:0000463	Anteverted nares	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000463	HP:0000463	Anteverted nares	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0000463	HP:0000463	Anteverted nares	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000463	HP:0000463	Anteverted nares	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000463	HP:0000463	Anteverted nares	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000463	HP:0000463	Anteverted nares	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000463	HP:0000463	Anteverted nares	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0000463	HP:0000463	Anteverted nares	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0000463	HP:0000463	Anteverted nares	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0000463	HP:0000463	Anteverted nares	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0000463	HP:0000463	Anteverted nares	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000463	HP:0000463	Anteverted nares	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0000463	HP:0000463	Anteverted nares	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0000463	HP:0000463	Anteverted nares	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000463	HP:0000463	Anteverted nares	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000463	HP:0000463	Anteverted nares	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000463	HP:0000463	Anteverted nares	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0000463	HP:0000463	Anteverted nares	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0000463	HP:0000463	Anteverted nares	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0000463	HP:0000463	Anteverted nares	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000463	HP:0000463	Anteverted nares	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent	172
HP:0000463	HP:0000463	Anteverted nares	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000463	HP:0000463	Anteverted nares	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0000463	HP:0000463	Anteverted nares	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0000463	HP:0000463	Anteverted nares	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0000463	HP:0000463	Anteverted nares	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000463	HP:0000463	Anteverted nares	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000463	HP:0000463	Anteverted nares	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0000463	HP:0000463	Anteverted nares	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000463	HP:0000463	Anteverted nares	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0000463	HP:0000463	Anteverted nares	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000463	HP:0000463	Anteverted nares	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0000463	HP:0000463	Anteverted nares	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0000463	HP:0000463	Anteverted nares	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0000463	HP:0000463	Anteverted nares	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0000463	HP:0000463	Anteverted nares	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000463	HP:0000463	Anteverted nares	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000463	HP:0000463	Anteverted nares	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0000463	HP:0000463	Anteverted nares	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0000463	HP:0000463	Anteverted nares	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000463	HP:0000463	Anteverted nares	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000463	HP:0000463	Anteverted nares	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0000463	HP:0000463	Anteverted nares	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000463	HP:0000463	Anteverted nares	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000463	HP:0000463	Anteverted nares	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0000463	HP:0000463	Anteverted nares	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000463	HP:0000463	Anteverted nares	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000463	HP:0000463	Anteverted nares	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0000463	HP:0000463	Anteverted nares	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0000463	HP:0000463	Anteverted nares	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0000463	HP:0000463	Anteverted nares	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000463	HP:0000463	Anteverted nares	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000463	HP:0000463	Anteverted nares	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0000463	HP:0000463	Anteverted nares	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000463	HP:0000463	Anteverted nares	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000463	HP:0000463	Anteverted nares	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0000463	HP:0000463	Anteverted nares	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0000463	HP:0000463	Anteverted nares	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0000463	HP:0000463	Anteverted nares	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0000463	HP:0000463	Anteverted nares	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000463	HP:0000463	Anteverted nares	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000463	HP:0000463	Anteverted nares	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0000463	HP:0000463	Anteverted nares	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000463	HP:0000463	Anteverted nares	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0000463	HP:0000463	Anteverted nares	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000463	HP:0000463	Anteverted nares	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0000463	HP:0000463	Anteverted nares	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0000463	HP:0000463	Anteverted nares	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0000463	HP:0000463	Anteverted nares	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000463	HP:0000463	Anteverted nares	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0000463	HP:0000463	Anteverted nares	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000463	HP:0000463	Anteverted nares	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000463	HP:0000463	Anteverted nares	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000463	HP:0000463	Anteverted nares	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0000463	HP:0000463	Anteverted nares	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000463	HP:0000463	Anteverted nares	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0000463	HP:0000463	Anteverted nares	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000463	HP:0000463	Anteverted nares	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0000463	HP:0000463	Anteverted nares	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0000463	HP:0000463	Anteverted nares	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000463	HP:0000463	Anteverted nares	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0000463	HP:0000463	Anteverted nares	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000463	HP:0000463	Anteverted nares	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0000463	HP:0000463	Anteverted nares	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0000463	HP:0000463	Anteverted nares	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000463	HP:0000463	Anteverted nares	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000463	HP:0000463	Anteverted nares	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0000463	HP:0000463	Anteverted nares	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000463	HP:0000463	Anteverted nares	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0000463	HP:0000463	Anteverted nares	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0000463	HP:0000463	Anteverted nares	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0000463	HP:0000463	Anteverted nares	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0000463	HP:0000463	Anteverted nares	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000463	HP:0000463	Anteverted nares	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000463	HP:0000463	Anteverted nares	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0000463	HP:0000463	Anteverted nares	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0000463	HP:0000463	Anteverted nares	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0000463	HP:0000463	Anteverted nares	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0000463	HP:0000463	Anteverted nares	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0000463	HP:0000463	Anteverted nares	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0000463	HP:0000463	Anteverted nares	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000463	HP:0000463	Anteverted nares	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0000463	HP:0000463	Anteverted nares	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0000463	HP:0000463	Anteverted nares	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000463	HP:0000463	Anteverted nares	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0000463	HP:0000463	Anteverted nares	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000463	HP:0000463	Anteverted nares	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000463	HP:0000463	Anteverted nares	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0000463	HP:0000463	Anteverted nares	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0000463	HP:0000463	Anteverted nares	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000463	HP:0000463	Anteverted nares	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000463	HP:0000463	Anteverted nares	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0000463	HP:0000463	Anteverted nares	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0000463	HP:0000463	Anteverted nares	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0000463	HP:0000463	Anteverted nares	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0000463	HP:0000463	Anteverted nares	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0000463	HP:0000463	Anteverted nares	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0000463	HP:0000463	Anteverted nares	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0000463	HP:0000463	Anteverted nares	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0000463	HP:0000463	Anteverted nares	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0000463	HP:0000463	Anteverted nares	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0000463	HP:0000463	Anteverted nares	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000463	HP:0000463	Anteverted nares	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000463	HP:0000463	Anteverted nares	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0000463	HP:0000463	Anteverted nares	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0000463	HP:0000463	Anteverted nares	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0000463	HP:0000463	Anteverted nares	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0000463	HP:0000463	Anteverted nares	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0000463	HP:0000463	Anteverted nares	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0000463	HP:0000463	Anteverted nares	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000463	HP:0000463	Anteverted nares	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000463	HP:0000463	Anteverted nares	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0000463	HP:0000463	Anteverted nares	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0000463	HP:0000463	Anteverted nares	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0000463	HP:0000463	Anteverted nares	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0000463	HP:0000463	Anteverted nares	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000463	HP:0000463	Anteverted nares	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0000463	HP:0000463	Anteverted nares	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000463	HP:0000463	Anteverted nares	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0000463	HP:0000463	Anteverted nares	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000463	HP:0000463	Anteverted nares	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000463	HP:0000463	Anteverted nares	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0000463	HP:0000463	Anteverted nares	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000463	HP:0000463	Anteverted nares	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0000463	HP:0000463	Anteverted nares	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0000463	HP:0000463	Anteverted nares	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0000463	HP:0000463	Anteverted nares	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0000463	HP:0000463	Anteverted nares	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0000463	HP:0000463	Anteverted nares	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0000463	HP:0000463	Anteverted nares	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0000463	HP:0000463	Anteverted nares	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0000463	HP:0000463	Anteverted nares	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0000463	HP:0000463	Anteverted nares	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0000463	HP:0000463	Anteverted nares	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000463	HP:0000463	Anteverted nares	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000463	HP:0000463	Anteverted nares	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0000463	HP:0000463	Anteverted nares	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0000463	HP:0000463	Anteverted nares	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000463	HP:0000463	Anteverted nares	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000463	HP:0000463	Anteverted nares	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0000463	HP:0000463	Anteverted nares	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000463	HP:0000463	Anteverted nares	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0000463	HP:0000463	Anteverted nares	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0000463	HP:0000463	Anteverted nares	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0000463	HP:0000463	Anteverted nares	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0000463	HP:0000463	Anteverted nares	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98	.	52
HP:0000463	HP:0000463	Anteverted nares	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0000463	HP:0000463	Anteverted nares	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0000463	HP:0000463	Anteverted nares	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0000463	HP:0000463	Anteverted nares	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000463	HP:0000463	Anteverted nares	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0000463	HP:0000463	Anteverted nares	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000463	HP:0000463	Anteverted nares	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000463	HP:0000463	Anteverted nares	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0000463	HP:0000463	Anteverted nares	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0000463	HP:0000463	Anteverted nares	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000463	HP:0000463	Anteverted nares	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0000463	HP:0000463	Anteverted nares	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000463	HP:0000463	Anteverted nares	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0000463	HP:0000463	Anteverted nares	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0000463	HP:0000463	Anteverted nares	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0000463	HP:0000463	Anteverted nares	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0000463	HP:0000463	Anteverted nares	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000463	HP:0000463	Anteverted nares	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0000463	HP:0000463	Anteverted nares	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0000463	HP:0000463	Anteverted nares	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000463	HP:0000463	Anteverted nares	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0000463	HP:0000463	Anteverted nares	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000463	HP:0000463	Anteverted nares	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0000463	HP:0000463	Anteverted nares	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0000463	HP:0000463	Anteverted nares	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0000463	HP:0000463	Anteverted nares	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0000463	HP:0000463	Anteverted nares	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	231
HP:0000463	HP:0000463	Anteverted nares	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0000463	HP:0000463	Anteverted nares	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0000463	HP:0000463	Anteverted nares	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0000463	HP:0000463	Anteverted nares	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000463	HP:0000463	Anteverted nares	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0000463	HP:0000463	Anteverted nares	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000463	HP:0000463	Anteverted nares	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.	3
HP:0000463	HP:0000463	Anteverted nares	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0000463	HP:0000463	Anteverted nares	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000463	HP:0000463	Anteverted nares	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0000463	HP:0000463	Anteverted nares	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0000463	HP:0000463	Anteverted nares	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0000463	HP:0000463	Anteverted nares	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0000463	HP:0000463	Anteverted nares	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0000463	HP:0000463	Anteverted nares	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0000463	HP:0000463	Anteverted nares	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000463	HP:0000463	Anteverted nares	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0000463	HP:0000463	Anteverted nares	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0000463	HP:0000463	Anteverted nares	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0000463	HP:0000463	Anteverted nares	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0000463	HP:0000463	Anteverted nares	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0000463	HP:0000463	Anteverted nares	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0000463	HP:0000463	Anteverted nares	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0000463	HP:0000463	Anteverted nares	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0000463	HP:0000463	Anteverted nares	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0000463	HP:0000463	Anteverted nares	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0000463	HP:0000463	Anteverted nares	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0000463	HP:0000463	Anteverted nares	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0000463	HP:0000463	Anteverted nares	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0000463	HP:0000463	Anteverted nares	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0000463	HP:0000463	Anteverted nares	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000463	HP:0000463	Anteverted nares	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0000463	HP:0000463	Anteverted nares	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0000463	HP:0000463	Anteverted nares	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0000463	HP:0000463	Anteverted nares	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000463	HP:0000463	Anteverted nares	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0000463	HP:0000463	Anteverted nares	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0000463	HP:0000463	Anteverted nares	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000463	HP:0000463	Anteverted nares	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000463	HP:0000463	Anteverted nares	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0000463	HP:0000463	Anteverted nares	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0000463	HP:0000463	Anteverted nares	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000463	HP:0000463	Anteverted nares	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0000463	HP:0000463	Anteverted nares	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0000463	HP:0000463	Anteverted nares	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000463	HP:0000463	Anteverted nares	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000463	HP:0000463	Anteverted nares	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000463	HP:0000463	Anteverted nares	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0000463	HP:0000463	Anteverted nares	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0000463	HP:0000463	Anteverted nares	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000463	HP:0000463	Anteverted nares	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0000463	HP:0000463	Anteverted nares	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0000463	HP:0000463	Anteverted nares	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0000463	HP:0000463	Anteverted nares	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000463	HP:0000463	Anteverted nares	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0000463	HP:0000463	Anteverted nares	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0000463	HP:0000463	Anteverted nares	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000463	HP:0000463	Anteverted nares	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0000463	HP:0000463	Anteverted nares	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0000463	HP:0000463	Anteverted nares	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000463	HP:0000463	Anteverted nares	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000463	HP:0000463	Anteverted nares	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0000463	HP:0000463	Anteverted nares	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0000463	HP:0000463	Anteverted nares	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0000463	HP:0000463	Anteverted nares	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0000463	HP:0000463	Anteverted nares	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0000463	HP:0000463	Anteverted nares	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0000463	HP:0000463	Anteverted nares	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000463	HP:0000463	Anteverted nares	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0000463	HP:0000463	Anteverted nares	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0000463	HP:0000463	Anteverted nares	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000463	HP:0000463	Anteverted nares	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0000463	HP:0000463	Anteverted nares	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0000463	HP:0000463	Anteverted nares	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0000463	HP:0000463	Anteverted nares	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0000463	HP:0000463	Anteverted nares	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0000463	HP:0000463	Anteverted nares	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0000463	HP:0000463	Anteverted nares	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0000463	HP:0000463	Anteverted nares	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000463	HP:0000463	Anteverted nares	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional	948
HP:0000463	HP:0000463	Anteverted nares	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent	58
HP:0000463	HP:0000463	Anteverted nares	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0000463	HP:0000463	Anteverted nares	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000463	HP:0000463	Anteverted nares	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0000463	HP:0000463	Anteverted nares	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000463	HP:0000463	Anteverted nares	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional	53
HP:0000463	HP:0000463	Anteverted nares	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000463	HP:0000463	Anteverted nares	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000463	HP:0000463	Anteverted nares	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000463	HP:0000463	Anteverted nares	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0000463	HP:0000463	Anteverted nares	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0000463	HP:0000463	Anteverted nares	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0000463	HP:0000463	Anteverted nares	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0000463	HP:0000463	Anteverted nares	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0000463	HP:0000463	Anteverted nares	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0000463	HP:0000463	Anteverted nares	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0000463	HP:0000463	Anteverted nares	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000463	HP:0000463	Anteverted nares	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0000463	HP:0000463	Anteverted nares	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0000463	HP:0000463	Anteverted nares	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000463	HP:0000463	Anteverted nares	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0000463	HP:0000463	Anteverted nares	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0000463	HP:0000463	Anteverted nares	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0000463	HP:0000463	Anteverted nares	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0000463	HP:0000463	Anteverted nares	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0000463	HP:0000463	Anteverted nares	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000463	HP:0000463	Anteverted nares	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0000463	HP:0000463	Anteverted nares	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0000463	HP:0000463	Anteverted nares	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000463	HP:0000463	Anteverted nares	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0000463	HP:0000463	Anteverted nares	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0000463	HP:0000463	Anteverted nares	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000463	HP:0000463	Anteverted nares	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0000463	HP:0000463	Anteverted nares	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0000463	HP:0000463	Anteverted nares	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0000463	HP:0000463	Anteverted nares	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0000463	HP:0000463	Anteverted nares	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000463	HP:0000463	Anteverted nares	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000463	HP:0000463	Anteverted nares	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0000463	HP:0000463	Anteverted nares	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0000463	HP:0000463	Anteverted nares	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0000463	HP:0000463	Anteverted nares	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0000463	HP:0000463	Anteverted nares	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0000463	HP:0000463	Anteverted nares	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0000463	HP:0000463	Anteverted nares	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0000463	HP:0000463	Anteverted nares	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0000463	HP:0000463	Anteverted nares	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0000463	HP:0000463	Anteverted nares	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0000463	HP:0000463	Anteverted nares	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0000463	HP:0000463	Anteverted nares	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000463	HP:0000463	Anteverted nares	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0000463	HP:0000463	Anteverted nares	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0000463	HP:0000463	Anteverted nares	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0000463	HP:0000463	Anteverted nares	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000463	HP:0000463	Anteverted nares	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000463	HP:0000463	Anteverted nares	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0000463	HP:0000463	Anteverted nares	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000463	HP:0000463	Anteverted nares	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000463	HP:0000463	Anteverted nares	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0000463	HP:0000463	Anteverted nares	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0000463	HP:0000463	Anteverted nares	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0000463	HP:0000463	Anteverted nares	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000463	HP:0000463	Anteverted nares	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000463	HP:0000463	Anteverted nares	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000463	HP:0000463	Anteverted nares	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000463	HP:0000463	Anteverted nares	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0000463	HP:0000463	Anteverted nares	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0000463	HP:0000463	Anteverted nares	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000463	HP:0000463	Anteverted nares	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0000463	HP:0000463	Anteverted nares	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0000463	HP:0000463	Anteverted nares	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0000463	HP:0000463	Anteverted nares	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0000463	HP:0000463	Anteverted nares	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000463	HP:0000463	Anteverted nares	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000463	HP:0000463	Anteverted nares	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000463	HP:0000463	Anteverted nares	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0000463	HP:0000463	Anteverted nares	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000463	HP:0000463	Anteverted nares	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0000463	HP:0000463	Anteverted nares	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0000463	HP:0000463	Anteverted nares	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0000463	HP:0000463	Anteverted nares	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0000463	HP:0000463	Anteverted nares	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0000463	HP:0000463	Anteverted nares	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0000463	HP:0000463	Anteverted nares	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0000463	HP:0000463	Anteverted nares	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0000463	HP:0000463	Anteverted nares	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0000463	HP:0000463	Anteverted nares	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000463	HP:0000463	Anteverted nares	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000463	HP:0000463	Anteverted nares	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0000463	HP:0000463	Anteverted nares	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0000463	HP:0000463	Anteverted nares	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0000463	HP:0000463	Anteverted nares	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0000463	HP:0000463	Anteverted nares	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0000463	HP:0000463	Anteverted nares	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000463	HP:0000463	Anteverted nares	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0000463	HP:0000463	Anteverted nares	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000463	HP:0000463	Anteverted nares	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0000463	HP:0000463	Anteverted nares	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000463	HP:0000463	Anteverted nares	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000463	HP:0000463	Anteverted nares	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0000463	HP:0000463	Anteverted nares	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000463	HP:0000463	Anteverted nares	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000463	HP:0000463	Anteverted nares	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0000463	HP:0000463	Anteverted nares	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0000463	HP:0000463	Anteverted nares	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000463	HP:0000463	Anteverted nares	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0000463	HP:0000463	Anteverted nares	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000463	HP:0000463	Anteverted nares	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000463	HP:0000463	Anteverted nares	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0000463	HP:0000463	Anteverted nares	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0000463	HP:0000463	Anteverted nares	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0000463	HP:0000463	Anteverted nares	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0000463	HP:0000463	Anteverted nares	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000463	HP:0000463	Anteverted nares	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000463	HP:0000463	Anteverted nares	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0000463	HP:0000463	Anteverted nares	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0000463	HP:0000463	Anteverted nares	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0000463	HP:0000463	Anteverted nares	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent	80
HP:0000463	HP:0000463	Anteverted nares	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0000463	HP:0000463	Anteverted nares	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0000463	HP:0000463	Anteverted nares	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent	21
HP:0000463	HP:0000463	Anteverted nares	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000463	HP:0000463	Anteverted nares	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0000463	HP:0000463	Anteverted nares	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0000463	HP:0000463	Anteverted nares	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000463	HP:0000463	Anteverted nares	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0000463	HP:0000463	Anteverted nares	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0000463	HP:0000463	Anteverted nares	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0000463	HP:0000463	Anteverted nares	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000463	HP:0000463	Anteverted nares	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0000463	HP:0000463	Anteverted nares	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0000463	HP:0000463	Anteverted nares	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0000463	HP:0000463	Anteverted nares	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000463	HP:0000463	Anteverted nares	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0000463	HP:0000463	Anteverted nares	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	39
HP:0000463	HP:0000463	Anteverted nares	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	45
HP:0000463	HP:0000463	Anteverted nares	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	33
HP:0000463	HP:0000463	Anteverted nares	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0000463	HP:0000463	Anteverted nares	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	82
HP:0000463	HP:0000463	Anteverted nares	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0000463	HP:0000463	Anteverted nares	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000463	HP:0000463	Anteverted nares	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0000463	HP:0000463	Anteverted nares	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0000463	HP:0000463	Anteverted nares	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0000463	HP:0000463	Anteverted nares	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0000463	HP:0000463	Anteverted nares	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0000463	HP:0000463	Anteverted nares	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0000463	HP:0000463	Anteverted nares	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0000463	HP:0000463	Anteverted nares	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000463	HP:0000463	Anteverted nares	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0000463	HP:0000463	Anteverted nares	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000463	HP:0000463	Anteverted nares	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0000463	HP:0000463	Anteverted nares	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000463	HP:0000463	Anteverted nares	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0000463	HP:0000463	Anteverted nares	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0000463	HP:0000463	Anteverted nares	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0000463	HP:0000463	Anteverted nares	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000463	HP:0000463	Anteverted nares	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0000463	HP:0000463	Anteverted nares	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000463	HP:0000463	Anteverted nares	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0000463	HP:0000463	Anteverted nares	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0000463	HP:0000463	Anteverted nares	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0000463	HP:0000463	Anteverted nares	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0000463	HP:0000463	Anteverted nares	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0000463	HP:0000463	Anteverted nares	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000463	HP:0000463	Anteverted nares	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0000463	HP:0000463	Anteverted nares	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0000463	HP:0000463	Anteverted nares	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000463	HP:0000463	Anteverted nares	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0000463	HP:0000463	Anteverted nares	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0000463	HP:0000463	Anteverted nares	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0000463	HP:0000463	Anteverted nares	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0000463	HP:0000463	Anteverted nares	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000463	HP:0000463	Anteverted nares	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000463	HP:0000463	Anteverted nares	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0000463	HP:0000463	Anteverted nares	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0000463	HP:0000463	Anteverted nares	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0000463	HP:0000463	Anteverted nares	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0000463	HP:0000463	Anteverted nares	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0000463	HP:0000463	Anteverted nares	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0000463	HP:0000463	Anteverted nares	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000463	HP:0000463	Anteverted nares	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0000463	HP:0000463	Anteverted nares	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0000463	HP:0000463	Anteverted nares	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000463	HP:0000463	Anteverted nares	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0000463	HP:0000463	Anteverted nares	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0000463	HP:0000463	Anteverted nares	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000463	HP:0000463	Anteverted nares	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0000463	HP:0000463	Anteverted nares	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0000463	HP:0000463	Anteverted nares	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000463	HP:0000463	Anteverted nares	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0000463	HP:0000463	Anteverted nares	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0000463	HP:0000463	Anteverted nares	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	49
HP:0000463	HP:0000463	Anteverted nares	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000463	HP:0000463	Anteverted nares	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0000463	HP:0000463	Anteverted nares	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000463	HP:0000463	Anteverted nares	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1

Genes (529) :ABCA4 ABCC8 ABCC9 ACSL4 ACTB ACTG2 ADAMTS3 ADAMTSL2 ADGRG6 ADNP ADSL AFF4 AGA AGBL5 AHI1 AHR AIFM1 AIMP2 AKT1 ALG13 ALX4 AMMECR1 ANKRD11 ANTXR1 AP2M1 ARHGEF18 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARX ASH1L ASXL1 ASXL3 ATAD3A ATIC ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 B3GALT6 B3GLCT B9D1 B9D2 BAP1 BBS1 BBS2 BEST1 BICRA BLTP1 BMP2 BRAF BRCA1 BRD4 BRF1 BUB1B CA4 CAMTA1 CANT1 CASK CBY1 CC2D2A CCDC8 CD96 CDC42BPB CDH11 CDHR1 CDKL5 CDON CEP104 CEP120 CEP290 CEP41 CEP55 CERKL CERT1 CFAP418 CHD2 CHMP1A CHN1 CLCF1 CLRN1 CNGA1 CNGB1 CNOT2 CNOT3 COG1 COL11A1 COL11A2 COL2A1 CPLANE1 CPSF3 CRB1 CREBBP CRIPT CRLF1 CRX CSGALNACT1 CSNK2A1 CSPP1 CTCF CUL7 DDB1 DDX3X DEAF1 DHCR24 DHCR7 DHDDS DHX37 DHX38 DIS3L2 DISP1 DLK1 DLL1 DLL3 DMXL2 DNMT3A DNMT3B DOCK3 DOCK7 DPF2 DPYD DVL1 DVL3 DYNC1I2 EBF3 ECEL1 EFTUD2 EHMT1 ELN ERF EXOSC1 EXOSC2 EXTL3 EYA1 EYS FAM149B1 FAM161A FAM20C FBN1 FBXO31 FGD1 FGF3 FGF8 FGFR1 FGFR2 FGFR3 FH FIG4 FLI1 FLII FLNB FOXH1 FRMD4A FSCN2 FTO FZD2 GAD1 GAS1 GBA1 GDF11 GJA1 GJA5 GJA8 GLI2 GLI3 GLUL GMNN GNAI1 GNAO1 GNPAT GNPTAB GNS GPAA1 GPC3 GPC4 GPC6 GRIN1 GRM7 GUCA1B H3-3A H4C5 HDAC4 HDAC8 HECW2 HES7 HGSNAT HIC1 HIVEP2 HK1 HOXB1 HPDL HRAS HYLS1 IDH3A IDH3B IDUA IER3IP1 IFT122 IFT140 IFT172 IFT43 IFT52 IFT88 IL6ST IMPDH1 IMPG1 IMPG2 INPP5E INPPL1 INSR IQSEC2 IRX5 KATNB1 KATNIP KCNA1 KCNE5 KCNH1 KCNJ11 KCNJ8 KCTD1 KDM1A KDM4B KIAA0586 KIAA0753 KIAA1549 KIF11 KIF14 KIF15 KIF1A KIZ KLHL15 KLHL7 KNSTRN KRAS LFNG LIFR LMBRD2 LONP1 LRAT LRPPRC LTBP3 MAB21L1 MADD MAFB MAK MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPK8IP3 MARS2 MECP2 MED12L MED25 MED27 MEF2C MEG3 MEGF8 MERTK MESP2 METTL23 MICU1 MID1 MKS1 MLXIPL MN1 MPLKIP MSL3 MYCN MYMK MYMX NALCN NARS2 NEK2 NEUROD2 NEXMIF NFIA NFIB NFIX NGLY1 NIPBL NODAL NOTCH2 NOVA2 NPHP1 NR2E3 NR2F1 NRAS NRL NSD1 NSRP1 NXN OBSL1 OCLN OFD1 PAFAH1B1 PAH PAICS PAK3 PAM16 PARS2 PAX1 PBX1 PCARE PDE4D PDE6A PDE6B PDE6G PDHA1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHIP PIBF1 PIEZO2 PIGA PIGF PIGN PIGP PIGQ PIGT PIGY PIK3CD PLCB3 PLCH1 PLEC PLK4 PLOD3 PMM2 PNKP POLR3A POLRMT POMGNT1 POU1F1 POU4F1 PPM1D PPP1CB PPP1R15B PPP1R21 PPP2R1A PRCD PRKAR1A PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTCH1 PTEN PTH1R PTPRF PUF60 PURA PUS7 PYCR2 RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAI1 RALA RALGAPA1 RBM10 RBM8A RBP3 RDH12 REEP6 RERE RGR RHO RIC1 RIPPLY2 RLBP1 RMRP RNF125 RNF2 RNU4ATAC ROM1 ROR2 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RPS6KA3 RTL1 SAG SALL4 SATB2 SC5D SCAPER SCN1A SCN1B SCN2A SEC23A SEMA4A SETBP1 SETD1A SETD5 SH3PXD2B SHH SHOC2 SIK1 SIM1 SIN3A SIX3 SKI SKIC3 SLC17A5 SLC25A22 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC6A1 SLC6A9 SLC7A14 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG9 SMS SNRNP200 SNRPN SNX14 SOX11 SOX4 SPATA7 SPECC1L SPEN SPOP SPTBN1 SUFU SUMF1 SYNGAP1 TAF1 TAPT1 TBC1D20 TBC1D24 TBCK TBX6 TCF4 TCTN1 TCTN2 TDGF1 TGIF1 TMCO1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM53 TMEM67 TMEM70 TMEM94 TOGARAM1 TONSL TOPORS TOR1A TRIM8 TRIO TRIP11 TRIP12 TRMT10A TRRAP TTC26 TTC8 TUB TUBGCP4 TUBGCP6 TULP1 TWIST2 TXNDC15 UBE3B UNC80 USH2A VAC14 VPS35L VPS51 WDR19 WDR26 WDR35 WDR4 WLS WNT5A XYLT1 YWHAE ZBTB20 ZBTB24 ZC4H2 ZIC2 ZMYM2 ZNF292 ZNF408 ZNF423 ZNF462 ZNF513 ZNF699 ZNHIT3

Diseases (433) :ORPHA:791 ORPHA:79134 OMIM:239850 ORPHA:1517 ORPHA:86818 OMIM:243310 ORPHA:2604 OMIM:618154 OMIM:231050 OMIM:616503 OMIM:615873 OMIM:103050 ORPHA:46 OMIM:616368 ORPHA:444077 OMIM:208400 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:83629 OMIM:300232 OMIM:618006 ORPHA:744 ORPHA:324422 OMIM:300884 OMIM:613451 ORPHA:228390 ORPHA:261250 ORPHA:2332 OMIM:148050 ORPHA:2067 ORPHA:1942 ORPHA:1465 OMIM:614607 OMIM:618161 ORPHA:1934 OMIM:617796 OMIM:605039 ORPHA:97297 OMIM:615485 OMIM:618810 OMIM:608688 ORPHA:357074 OMIM:219200 ORPHA:79500 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:615834 ORPHA:536467 ORPHA:709 OMIM:619762 OMIM:619325 OMIM:617822 OMIM:617877 ORPHA:1340 OMIM:115150 OMIM:617883 ORPHA:199 ORPHA:444072 OMIM:257300 OMIM:614756 ORPHA:314647 ORPHA:1425 ORPHA:1454 ORPHA:2318 ORPHA:2616 OMIM:614205 ORPHA:1308 OMIM:211750 OMIM:619841 OMIM:211380 OMIM:300672 ORPHA:280200 OMIM:236500 OMIM:616351 OMIM:614961 ORPHA:233 ORPHA:1545 OMIM:618608 OMIM:618672 OMIM:611209 ORPHA:2021 OMIM:228520 ORPHA:560 OMIM:154780 OMIM:604841 OMIM:614524 OMIM:215150 ORPHA:1427 OMIM:184840 OMIM:108300 OMIM:619876 OMIM:618332 OMIM:615789 OMIM:272430 OMIM:618870 OMIM:617062 ORPHA:363611 OMIM:273750 OMIM:619426 OMIM:300958 ORPHA:819 OMIM:602398 OMIM:270400 ORPHA:818 OMIM:618731 ORPHA:2849 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:2311 OMIM:615879 OMIM:242860 OMIM:618292 ORPHA:411986 OMIM:615859 OMIM:618027 ORPHA:1675 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 OMIM:618492 OMIM:617330 OMIM:615065 OMIM:610536 OMIM:610253 ORPHA:96147 OMIM:194050 OMIM:617180 OMIM:619304 OMIM:617763 ORPHA:508533 ORPHA:2792 OMIM:618763 ORPHA:1832 OMIM:102370 ORPHA:969 ORPHA:2462 OMIM:615979 ORPHA:915 OMIM:305400 ORPHA:2791 OMIM:166250 ORPHA:2645 OMIM:123790 ORPHA:1555 ORPHA:15 OMIM:606812 ORPHA:3472 OMIM:216340 ORPHA:2308 OMIM:272460 OMIM:616819 ORPHA:466688 OMIM:612938 OMIM:619124 ORPHA:85212 OMIM:608013 OMIM:619122 OMIM:164200 ORPHA:2710 OMIM:612474 OMIM:146510 ORPHA:672 OMIM:610015 OMIM:616835 OMIM:619854 OMIM:222765 OMIM:252500 OMIM:252940 OMIM:617810 ORPHA:529665 ORPHA:373 OMIM:312870 ORPHA:93329 OMIM:619720 OMIM:619950 ORPHA:1001 OMIM:300882 OMIM:617268 ORPHA:531 OMIM:616977 OMIM:618547 OMIM:614744 OMIM:619026 OMIM:218040 OMIM:137550 ORPHA:93473 OMIM:607014 OMIM:614231 ORPHA:1515 OMIM:218330 OMIM:619750 OMIM:213300 OMIM:258480 ORPHA:769 OMIM:611174 OMIM:616212 OMIM:616784 ORPHA:420561 OMIM:181270 OMIM:616728 ORPHA:477993 OMIM:619320 OMIM:617127 OMIM:152950 ORPHA:2526 OMIM:616258 ORPHA:261323 ORPHA:2836 OMIM:300982 ORPHA:221139 OMIM:615278 OMIM:609942 ORPHA:3339 OMIM:601559 OMIM:619694 ORPHA:1458 OMIM:600373 OMIM:220111 OMIM:617809 OMIM:618479 OMIM:619005 OMIM:157800 OMIM:619087 OMIM:618443 OMIM:616430 OMIM:300260 OMIM:618872 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:613443 OMIM:614976 OMIM:615942 OMIM:615673 ORPHA:2745 OMIM:300000 OMIM:618774 OMIM:234050 OMIM:301032 OMIM:164280 OMIM:254940 ORPHA:1358 OMIM:619941 OMIM:616266 ORPHA:371364 OMIM:300912 OMIM:613735 OMIM:618286 OMIM:602535 ORPHA:561 OMIM:615273 OMIM:122470 OMIM:102500 ORPHA:955 OMIM:618859 ORPHA:220497 OMIM:615722 ORPHA:401777 OMIM:117550 OMIM:620001 ORPHA:1507 OMIM:618529 OMIM:612921 OMIM:251290 OMIM:300209 ORPHA:2209 OMIM:619859 OMIM:300558 OMIM:613320 OMIM:618437 OMIM:617641 ORPHA:950 OMIM:614613 ORPHA:280651 OMIM:312170 ORPHA:44 OMIM:214100 OMIM:614883 OMIM:202370 OMIM:617991 ORPHA:589905 OMIM:248700 OMIM:300868 OMIM:619356 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:618548 OMIM:615398 OMIM:616809 OMIM:618961 OMIM:619895 OMIM:612138 ORPHA:2518 OMIM:612394 ORPHA:79318 ORPHA:3455 OMIM:264090 OMIM:619743 OMIM:613038 OMIM:617450 ORPHA:2701 ORPHA:391408 OMIM:619383 OMIM:616362 ORPHA:457284 OMIM:101800 OMIM:617157 ORPHA:464288 ORPHA:109 ORPHA:2969 ORPHA:50945 OMIM:616001 ORPHA:508488 OMIM:616158 ORPHA:438216 ORPHA:314655 OMIM:618342 OMIM:616420 ORPHA:481152 ORPHA:2510 OMIM:600118 OMIM:617751 ORPHA:500159 OMIM:618577 OMIM:614701 OMIM:619311 OMIM:618797 ORPHA:2886 OMIM:311900 OMIM:274000 OMIM:616975 ORPHA:494344 OMIM:618761 ORPHA:175 OMIM:616260 OMIM:619460 OMIM:210710 OMIM:616651 OMIM:268310 OMIM:303600 ORPHA:192 ORPHA:251019 OMIM:612313 OMIM:607330 ORPHA:46059 OMIM:607812 OMIM:269150 OMIM:619056 ORPHA:404440 OMIM:615761 OMIM:249420 ORPHA:171829 OMIM:613406 OMIM:182212 OMIM:222470 OMIM:269920 OMIM:616505 ORPHA:93298 OMIM:602782 OMIM:617301 OMIM:619293 OMIM:601358 ORPHA:3051 OMIM:614609 OMIM:614608 OMIM:618362 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:616920 OMIM:309583 ORPHA:3063 ORPHA:177907 OMIM:616354 OMIM:615866 OMIM:618506 OMIM:145420 OMIM:619312 OMIM:618829 OMIM:619475 OMIM:272200 ORPHA:585 OMIM:300966 ORPHA:480907 OMIM:616897 OMIM:615663 OMIM:220500 OMIM:616900 ORPHA:1797 ORPHA:2896 OMIM:213980 OMIM:619727 OMIM:216360 OMIM:614052 OMIM:618316 OMIM:619185 ORPHA:93357 OMIM:271510 OMIM:618947 OMIM:618825 ORPHA:93299 OMIM:200600 OMIM:617752 OMIM:618454 OMIM:619534 ORPHA:920 OMIM:209885 ORPHA:1231 OMIM:619879 OMIM:244450 OMIM:616801 OMIM:619135 OMIM:618606 OMIM:614378 ORPHA:513456 OMIM:617616 OMIM:618347 OMIM:619648 OMIM:259050 OMIM:614069 OMIM:314580 OMIM:301041 OMIM:609637 OMIM:619522 OMIM:619188 OMIM:618619 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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