Human Phenotype Ontology

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:0005288	HP:0005288	Abnormal nostril morphology	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa		826
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome		245
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		254
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1		72
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome		60
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG		96
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa		29
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0005288	HP:0005288	Abnormal nostril morphology	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0005288	HP:0005288	Abnormal nostril morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0005288	HP:0005288	Abnormal nostril morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0005288	HP:0005288	Abnormal nostril morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0005288	HP:0005288	Abnormal nostril morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa		114
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa		97
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa		182
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome		85
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa		147
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa		71
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa		60
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa		44
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa		164
HP:0005288	HP:0005288	Abnormal nostril morphology	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:0005288	HP:0005288	Abnormal nostril morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis		215
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis		222
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III		222
HP:0005288	HP:0005288	Abnormal nostril morphology	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa		156
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome		24
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa		158
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome		159
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa		47
HP:0005288	HP:0005288	Abnormal nostril morphology	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:0005288	HP:0005288	Abnormal nostril morphology	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa		209
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa		56
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia		35
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia		1361
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome		18
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly		172
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia		145
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa		26
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0005288	HP:0005288	Abnormal nostril morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly		173
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa		36
HP:0005288	HP:0005288	Abnormal nostril morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		10
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa		86
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0005288	HP:0005288	Abnormal nostril morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa		30
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome		115
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa		148
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa		52
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa		120
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0005288	HP:0005288	Abnormal nostril morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0005288	HP:0005288	Abnormal nostril morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa		42
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2		196
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0005288	HP:0005288	Abnormal nostril morphology	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa		62
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa		53
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25		25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa		75
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0005288	HP:0005288	Abnormal nostril morphology	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome		40
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa		58
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa		30
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa		201
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0005288	HP:0005288	Abnormal nostril morphology	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0005288	HP:0005288	Abnormal nostril morphology	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:0005288	HP:0005288	Abnormal nostril morphology	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis		113
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa		116
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa		126
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa		18
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy		169
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy		75
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy		65
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy		66
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)		66
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy		46
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy		59
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy		62
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy		82
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy		106
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy		47
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy		98
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa		180
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0005288	HP:0005288	Abnormal nostril morphology	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa		39
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis		134
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa		110
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa		28
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa		70
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa		51
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa		94
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa		159
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly		665
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly		665
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		665
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly		665
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation		53
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome		16
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa		108
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa		28
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa		107
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa		47
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa		38
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa		111
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa		284
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa		129
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa		200
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly		67
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome		40
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease		78
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly		135
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome		174
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa		83
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa		48
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly		99
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency		80
HP:0005288	HP:0005288	Abnormal nostril morphology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome		21
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome		241
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly		32
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa		61
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA		133
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa		41
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa		1
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome		61
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa		66
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0005288	HP:0005288	Abnormal nostril morphology	0	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0005288	HP:0005288	Abnormal nostril morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional	25
HP:0005288	HP:0005288	Abnormal nostril morphology	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0005288	HP:0005288	Abnormal nostril morphology	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa		777
HP:0005288	HP:0005288	Abnormal nostril morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive		12
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0005288	HP:0005288	Abnormal nostril morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0005288	HP:0005288	Abnormal nostril morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2		9
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly		34
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa		14
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa		27
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0005288	HP:0005288	Abnormal nostril morphology	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0005288	HP:0009930	Asymmetry of the nares	1	CL E G H
HP:0005288	HP:0009934	Supernumerary naris	1	CL E G H
HP:0005288	HP:0000463	Anteverted nares	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0005288	HP:0000463	Anteverted nares	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	245
HP:0005288	HP:0000463	Anteverted nares	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0005288	HP:0000463	Anteverted nares	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0005288	HP:0000463	Anteverted nares	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0005288	HP:0000463	Anteverted nares	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0005288	HP:0000463	Anteverted nares	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0005288	HP:0000463	Anteverted nares	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.	1
HP:0005288	HP:0000463	Anteverted nares	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0005288	HP:0000463	Anteverted nares	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0005288	HP:0000463	Anteverted nares	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0005288	HP:0000463	Anteverted nares	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0005288	HP:0000463	Anteverted nares	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0005288	HP:0000463	Anteverted nares	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0005288	HP:0000463	Anteverted nares	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0005288	HP:0000463	Anteverted nares	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0005288	HP:0000463	Anteverted nares	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0005288	HP:0000463	Anteverted nares	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0005288	HP:0000463	Anteverted nares	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0005288	HP:0000463	Anteverted nares	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0005288	HP:0000463	Anteverted nares	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040283 - Occasional	60
HP:0005288	HP:0000463	Anteverted nares	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0005288	HP:0000463	Anteverted nares	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0005288	HP:0000463	Anteverted nares	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0005288	HP:0000463	Anteverted nares	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0005288	HP:0000463	Anteverted nares	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0005288	HP:0000463	Anteverted nares	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0005288	HP:0000463	Anteverted nares	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0005288	HP:0000463	Anteverted nares	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0005288	HP:0000463	Anteverted nares	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0005288	HP:0000463	Anteverted nares	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0005288	HP:0000463	Anteverted nares	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0005288	HP:0000463	Anteverted nares	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0005288	HP:0000463	Anteverted nares	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0005288	HP:0000463	Anteverted nares	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0005288	HP:0000463	Anteverted nares	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0005288	HP:0000463	Anteverted nares	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.	88
HP:0005288	HP:0000463	Anteverted nares	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0005288	HP:0000463	Anteverted nares	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0005288	HP:0000463	Anteverted nares	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0005288	HP:0000463	Anteverted nares	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0005288	HP:0000463	Anteverted nares	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0005288	HP:0000463	Anteverted nares	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0005288	HP:0000463	Anteverted nares	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0005288	HP:0000463	Anteverted nares	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0005288	HP:0000463	Anteverted nares	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0005288	HP:0000463	Anteverted nares	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0005288	HP:0000463	Anteverted nares	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0005288	HP:0000463	Anteverted nares	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0005288	HP:0000463	Anteverted nares	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0005288	HP:0000463	Anteverted nares	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0005288	HP:0000463	Anteverted nares	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.	4
HP:0005288	HP:0000463	Anteverted nares	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0005288	HP:0000463	Anteverted nares	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0005288	HP:0000463	Anteverted nares	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0005288	HP:0009933	Narrow naris	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0005288	HP:0000463	Anteverted nares	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0005288	HP:0009933	Narrow naris	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0005288	HP:0000463	Anteverted nares	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0005288	HP:0000463	Anteverted nares	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0005288	HP:0000463	Anteverted nares	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0005288	HP:0000463	Anteverted nares	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0005288	HP:0000463	Anteverted nares	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26		61
HP:0005288	HP:0000463	Anteverted nares	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0005288	HP:0000463	Anteverted nares	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0005288	HP:0000463	Anteverted nares	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0005288	HP:0000463	Anteverted nares	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0005288	HP:0000463	Anteverted nares	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0005288	HP:0000463	Anteverted nares	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0005288	HP:0000463	Anteverted nares	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0005288	HP:0000463	Anteverted nares	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0005288	HP:0000463	Anteverted nares	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0005288	HP:0000463	Anteverted nares	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0005288	HP:0000463	Anteverted nares	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0005288	HP:0000463	Anteverted nares	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0005288	HP:0000463	Anteverted nares	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0005288	HP:0000463	Anteverted nares	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0005288	HP:0000463	Anteverted nares	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0005288	HP:0000463	Anteverted nares	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0005288	HP:0000463	Anteverted nares	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0005288	HP:0000463	Anteverted nares	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0005288	HP:0000463	Anteverted nares	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0005288	HP:0000463	Anteverted nares	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	85
HP:0005288	HP:0000463	Anteverted nares	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	118
HP:0005288	HP:0000463	Anteverted nares	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0005288	HP:0000463	Anteverted nares	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0005288	HP:0000463	Anteverted nares	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	247
HP:0005288	HP:0000463	Anteverted nares	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0005288	HP:0000463	Anteverted nares	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0005288	HP:0000463	Anteverted nares	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent	83
HP:0005288	HP:0000463	Anteverted nares	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0005288	HP:0000463	Anteverted nares	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0005288	HP:0000463	Anteverted nares	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0005288	HP:0000463	Anteverted nares	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0005288	HP:0000463	Anteverted nares	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	405
HP:0005288	HP:0009932	Single naris	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0005288	HP:0009932	Single naris	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	200
HP:0005288	HP:0000463	Anteverted nares	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0005288	HP:0009932	Single naris	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0005288	HP:0009932	Single naris	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0005288	HP:0000463	Anteverted nares	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0005288	HP:0000463	Anteverted nares	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0005288	HP:0000463	Anteverted nares	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0005288	HP:0000463	Anteverted nares	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	342
HP:0005288	HP:0000463	Anteverted nares	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0005288	HP:0000463	Anteverted nares	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0005288	HP:0000463	Anteverted nares	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly		2
HP:0005288	HP:0000463	Anteverted nares	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0005288	HP:0000463	Anteverted nares	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0005288	HP:0000463	Anteverted nares	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0005288	HP:0000463	Anteverted nares	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0005288	HP:0000463	Anteverted nares	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	35
HP:0005288	HP:0000463	Anteverted nares	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0005288	HP:0000463	Anteverted nares	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0005288	HP:0000463	Anteverted nares	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0005288	HP:0000463	Anteverted nares	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0005288	HP:0000463	Anteverted nares	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS		2
HP:0005288	HP:0000463	Anteverted nares	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0005288	HP:0000463	Anteverted nares	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0005288	HP:0000463	Anteverted nares	1	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	215
HP:0005288	HP:0000463	Anteverted nares	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0005288	HP:0000463	Anteverted nares	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0005288	HP:0000463	Anteverted nares	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0005288	HP:0000463	Anteverted nares	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0005288	HP:0000463	Anteverted nares	1	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040282 - Frequent	222
HP:0005288	HP:0000463	Anteverted nares	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0005288	HP:0000463	Anteverted nares	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0005288	HP:0000463	Anteverted nares	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	222
HP:0005288	HP:0000463	Anteverted nares	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0005288	HP:0000463	Anteverted nares	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0005288	HP:0000463	Anteverted nares	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0005288	HP:0000463	Anteverted nares	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0005288	HP:0000463	Anteverted nares	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0005288	HP:0000463	Anteverted nares	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies		4
HP:0005288	HP:0000463	Anteverted nares	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0005288	HP:0000463	Anteverted nares	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0005288	HP:0000463	Anteverted nares	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0005288	HP:0000463	Anteverted nares	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0005288	HP:0000463	Anteverted nares	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0005288	HP:0000463	Anteverted nares	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0005288	HP:0009932	Single naris	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	HP:0040283 - Occasional	57
HP:0005288	HP:0000463	Anteverted nares	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0005288	HP:0000463	Anteverted nares	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0005288	HP:0000463	Anteverted nares	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0005288	HP:0000463	Anteverted nares	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0005288	HP:0000463	Anteverted nares	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0005288	HP:0000463	Anteverted nares	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0005288	HP:0000463	Anteverted nares	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0005288	HP:0000463	Anteverted nares	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0005288	HP:0000463	Anteverted nares	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent	159
HP:0005288	HP:0000463	Anteverted nares	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0005288	HP:0000463	Anteverted nares	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0005288	HP:0009932	Single naris	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0005288	HP:0009932	Single naris	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	22
HP:0005288	HP:0000463	Anteverted nares	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0005288	HP:0009932	Single naris	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0005288	HP:0009932	Single naris	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0005288	HP:0000463	Anteverted nares	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0005288	HP:0009932	Single naris	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	3
HP:0005288	HP:0000463	Anteverted nares	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0005288	HP:0009932	Single naris	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0005288	HP:0009932	Single naris	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0005288	HP:0000463	Anteverted nares	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0005288	HP:0000463	Anteverted nares	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0005288	HP:0000463	Anteverted nares	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0005288	HP:0000463	Anteverted nares	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0005288	HP:0000463	Anteverted nares	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0005288	HP:0000463	Anteverted nares	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0005288	HP:0000463	Anteverted nares	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0005288	HP:0000463	Anteverted nares	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0005288	HP:0000463	Anteverted nares	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0005288	HP:0000463	Anteverted nares	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0005288	HP:0000463	Anteverted nares	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies		1
HP:0005288	HP:0000463	Anteverted nares	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0005288	HP:0000463	Anteverted nares	1	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0005288	HP:0000463	Anteverted nares	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0005288	HP:0000463	Anteverted nares	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0005288	HP:0000463	Anteverted nares	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0005288	HP:0000463	Anteverted nares	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0005288	HP:0000463	Anteverted nares	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0005288	HP:0009933	Narrow naris	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0005288	HP:0000463	Anteverted nares	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0005288	HP:0000463	Anteverted nares	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0005288	HP:0000463	Anteverted nares	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005288	HP:0000463	Anteverted nares	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0005288	HP:0000463	Anteverted nares	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0005288	HP:0000463	Anteverted nares	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0005288	HP:0000463	Anteverted nares	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0005288	HP:0000463	Anteverted nares	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent	35
HP:0005288	HP:0000463	Anteverted nares	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0005288	HP:0000463	Anteverted nares	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0005288	HP:0000463	Anteverted nares	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0005288	HP:0000463	Anteverted nares	1	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0005288	HP:0000463	Anteverted nares	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0005288	HP:0000463	Anteverted nares	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0005288	HP:0000463	Anteverted nares	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0005288	HP:0009932	Single naris	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0005288	HP:0009932	Single naris	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	17
HP:0005288	HP:0000463	Anteverted nares	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0005288	HP:0009932	Single naris	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0005288	HP:0009932	Single naris	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0005288	HP:0009932	Single naris	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	172
HP:0005288	HP:0000463	Anteverted nares	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0005288	HP:0000463	Anteverted nares	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0005288	HP:0000463	Anteverted nares	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent	172
HP:0005288	HP:0009932	Single naris	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0005288	HP:0000463	Anteverted nares	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0005288	HP:0000463	Anteverted nares	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional	175
HP:0005288	HP:0000463	Anteverted nares	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040282 - Frequent	145
HP:0005288	HP:0000463	Anteverted nares	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0005288	HP:0000463	Anteverted nares	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0005288	HP:0000463	Anteverted nares	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0005288	HP:0000463	Anteverted nares	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0005288	HP:0000463	Anteverted nares	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0005288	HP:0009932	Single naris	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0005288	HP:0009932	Single naris	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	48
HP:0005288	HP:0000463	Anteverted nares	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0005288	HP:0009932	Single naris	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0005288	HP:0009932	Single naris	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0005288	HP:0000463	Anteverted nares	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0005288	HP:0000463	Anteverted nares	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0005288	HP:0000463	Anteverted nares	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0005288	HP:0009932	Single naris	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0005288	HP:0009932	Single naris	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	2
HP:0005288	HP:0000463	Anteverted nares	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0005288	HP:0009932	Single naris	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0005288	HP:0009932	Single naris	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0005288	HP:0000463	Anteverted nares	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0005288	HP:0000463	Anteverted nares	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0005288	HP:0000463	Anteverted nares	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0005288	HP:0000463	Anteverted nares	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0005288	HP:0000463	Anteverted nares	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0005288	HP:0000463	Anteverted nares	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0005288	HP:0009932	Single naris	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0005288	HP:0009932	Single naris	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0005288	HP:0009932	Single naris	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	173
HP:0005288	HP:0000463	Anteverted nares	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0005288	HP:0009932	Single naris	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0005288	HP:0009932	Single naris	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0005288	HP:0000463	Anteverted nares	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005288	HP:0000463	Anteverted nares	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0005288	HP:0000463	Anteverted nares	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0005288	HP:0000463	Anteverted nares	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0005288	HP:0000463	Anteverted nares	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0005288	HP:0000463	Anteverted nares	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	36
HP:0005288	HP:0000463	Anteverted nares	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0005288	HP:0000463	Anteverted nares	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0005288	HP:0000463	Anteverted nares	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0005288	HP:0000463	Anteverted nares	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0005288	HP:0000463	Anteverted nares	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0005288	HP:0000463	Anteverted nares	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0005288	HP:0000463	Anteverted nares	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0005288	HP:0000463	Anteverted nares	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0005288	HP:0000463	Anteverted nares	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	108
HP:0005288	HP:0000463	Anteverted nares	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	5
HP:0005288	HP:0000463	Anteverted nares	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0005288	HP:0000463	Anteverted nares	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0005288	HP:0000463	Anteverted nares	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0005288	HP:0000463	Anteverted nares	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0005288	HP:0000463	Anteverted nares	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0005288	HP:0000463	Anteverted nares	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0005288	HP:0000463	Anteverted nares	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0005288	HP:0000463	Anteverted nares	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	10
HP:0005288	HP:0000463	Anteverted nares	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0005288	HP:0000463	Anteverted nares	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0005288	HP:0000463	Anteverted nares	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0005288	HP:0000463	Anteverted nares	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional	2
HP:0005288	HP:0000463	Anteverted nares	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0005288	HP:0000463	Anteverted nares	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0005288	HP:0000463	Anteverted nares	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0005288	HP:0000463	Anteverted nares	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0005288	HP:0000463	Anteverted nares	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0005288	HP:0000463	Anteverted nares	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0005288	HP:0000463	Anteverted nares	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0005288	HP:0000463	Anteverted nares	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0005288	HP:0000463	Anteverted nares	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0005288	HP:0000463	Anteverted nares	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0005288	HP:0000463	Anteverted nares	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0005288	HP:0000463	Anteverted nares	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0005288	HP:0000463	Anteverted nares	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0005288	HP:0000463	Anteverted nares	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0005288	HP:0000463	Anteverted nares	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0005288	HP:0000463	Anteverted nares	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0005288	HP:0000463	Anteverted nares	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0005288	HP:0000463	Anteverted nares	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0005288	HP:0000463	Anteverted nares	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0005288	HP:0000463	Anteverted nares	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0005288	HP:0000463	Anteverted nares	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0005288	HP:0000463	Anteverted nares	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0005288	HP:0000463	Anteverted nares	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0005288	HP:0000463	Anteverted nares	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0005288	HP:0000463	Anteverted nares	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0005288	HP:0000463	Anteverted nares	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0005288	HP:0000463	Anteverted nares	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0005288	HP:0000463	Anteverted nares	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0005288	HP:0000463	Anteverted nares	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0005288	HP:0000463	Anteverted nares	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	145
HP:0005288	HP:0000463	Anteverted nares	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0005288	HP:0000463	Anteverted nares	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	127
HP:0005288	HP:0009933	Narrow naris	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0005288	HP:0000463	Anteverted nares	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0005288	HP:0000463	Anteverted nares	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0005288	HP:0000463	Anteverted nares	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0005288	HP:0000463	Anteverted nares	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0005288	HP:0000463	Anteverted nares	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0005288	HP:0000463	Anteverted nares	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0005288	HP:0000463	Anteverted nares	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0005288	HP:0000463	Anteverted nares	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0005288	HP:0000463	Anteverted nares	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0005288	HP:0000463	Anteverted nares	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	HP:0040283 - Occasional	9
HP:0005288	HP:0000463	Anteverted nares	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0005288	HP:0000463	Anteverted nares	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0005288	HP:0000463	Anteverted nares	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0005288	HP:0000463	Anteverted nares	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0005288	HP:0000463	Anteverted nares	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0005288	HP:0000463	Anteverted nares	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0005288	HP:0000463	Anteverted nares	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2	.	196
HP:0005288	HP:0000463	Anteverted nares	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0005288	HP:0000463	Anteverted nares	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent	196
HP:0005288	HP:0000463	Anteverted nares	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	13
HP:0005288	HP:0000463	Anteverted nares	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0005288	HP:0000463	Anteverted nares	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0005288	HP:0000463	Anteverted nares	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0005288	HP:0000463	Anteverted nares	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0005288	HP:0000463	Anteverted nares	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0005288	HP:0000463	Anteverted nares	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0005288	HP:0000463	Anteverted nares	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0005288	HP:0000463	Anteverted nares	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0005288	HP:0000463	Anteverted nares	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0005288	HP:0000463	Anteverted nares	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0005288	HP:0000463	Anteverted nares	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	63
HP:0005288	HP:0000463	Anteverted nares	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0005288	HP:0000463	Anteverted nares	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0005288	HP:0000463	Anteverted nares	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0005288	HP:0000463	Anteverted nares	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0005288	HP:0000463	Anteverted nares	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0005288	HP:0000463	Anteverted nares	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0005288	HP:0000463	Anteverted nares	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.	25
HP:0005288	HP:0000463	Anteverted nares	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0005288	HP:0000463	Anteverted nares	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0005288	HP:0000463	Anteverted nares	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0005288	HP:0000463	Anteverted nares	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0005288	HP:0000463	Anteverted nares	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0005288	HP:0000463	Anteverted nares	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0005288	HP:0000463	Anteverted nares	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0005288	HP:0009933	Narrow naris	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional	13
HP:0005288	HP:0000463	Anteverted nares	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0005288	HP:0000463	Anteverted nares	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0005288	HP:0000463	Anteverted nares	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	45
HP:0005288	HP:0000463	Anteverted nares	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44		13
HP:0005288	HP:0000463	Anteverted nares	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0005288	HP:0000463	Anteverted nares	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0005288	HP:0000463	Anteverted nares	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0005288	HP:0000463	Anteverted nares	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0005288	HP:0000463	Anteverted nares	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0005288	HP:0009931	Enlarged naris	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0005288	HP:0000463	Anteverted nares	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0005288	HP:0000463	Anteverted nares	1	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID		1
HP:0005288	HP:0000463	Anteverted nares	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0005288	HP:0000463	Anteverted nares	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0005288	HP:0000463	Anteverted nares	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0005288	HP:0000463	Anteverted nares	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0005288	HP:0000463	Anteverted nares	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0005288	HP:0000463	Anteverted nares	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0005288	HP:0009931	Enlarged naris	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0005288	HP:0009931	Enlarged naris	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0005288	HP:0000463	Anteverted nares	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0005288	HP:0009931	Enlarged naris	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0005288	HP:0000463	Anteverted nares	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0005288	HP:0000463	Anteverted nares	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional	34
HP:0005288	HP:0000463	Anteverted nares	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0005288	HP:0000463	Anteverted nares	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98	.	52
HP:0005288	HP:0000463	Anteverted nares	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0005288	HP:0000463	Anteverted nares	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0005288	HP:0000463	Anteverted nares	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.	1
HP:0005288	HP:0000463	Anteverted nares	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0005288	HP:0000463	Anteverted nares	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0005288	HP:0000463	Anteverted nares	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0005288	HP:0000463	Anteverted nares	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0005288	HP:0000463	Anteverted nares	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0005288	HP:0009932	Single naris	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0005288	HP:0009932	Single naris	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	45
HP:0005288	HP:0000463	Anteverted nares	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0005288	HP:0009932	Single naris	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0005288	HP:0009932	Single naris	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0005288	HP:0000463	Anteverted nares	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0005288	HP:0000463	Anteverted nares	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0005288	HP:0000463	Anteverted nares	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0005288	HP:0000463	Anteverted nares	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0005288	HP:0000463	Anteverted nares	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0005288	HP:0000463	Anteverted nares	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0005288	HP:0000463	Anteverted nares	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0005288	HP:0000463	Anteverted nares	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0005288	HP:0000463	Anteverted nares	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0005288	HP:0000463	Anteverted nares	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0005288	HP:0009931	Enlarged naris	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0005288	HP:0000463	Anteverted nares	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0005288	HP:0000463	Anteverted nares	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	2
HP:0005288	HP:0000463	Anteverted nares	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0005288	HP:0000463	Anteverted nares	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0005288	HP:0000463	Anteverted nares	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0005288	HP:0000463	Anteverted nares	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0005288	HP:0000463	Anteverted nares	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0005288	HP:0000463	Anteverted nares	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0005288	HP:0100596	Absent nares	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0005288	HP:0000463	Anteverted nares	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	231
HP:0005288	HP:0000463	Anteverted nares	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional	641
HP:0005288	HP:0000463	Anteverted nares	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0005288	HP:0000463	Anteverted nares	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0005288	HP:0000463	Anteverted nares	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0005288	HP:0000463	Anteverted nares	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0005288	HP:0000463	Anteverted nares	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	113
HP:0005288	HP:0000463	Anteverted nares	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0005288	HP:0000463	Anteverted nares	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0005288	HP:0000463	Anteverted nares	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0005288	HP:0000463	Anteverted nares	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0005288	HP:0000463	Anteverted nares	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0005288	HP:0000463	Anteverted nares	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0005288	HP:0000463	Anteverted nares	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0005288	HP:0000463	Anteverted nares	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0005288	HP:0000463	Anteverted nares	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0005288	HP:0000463	Anteverted nares	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0005288	HP:0000463	Anteverted nares	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0005288	HP:0000463	Anteverted nares	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0005288	HP:0000463	Anteverted nares	1	PEX13 CL E G H	5194	8855	OMIM:614883	Peroxisome biogenesis disorder 11A (Zellweger)	.	66
HP:0005288	HP:0000463	Anteverted nares	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0005288	HP:0000463	Anteverted nares	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0005288	HP:0000463	Anteverted nares	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0005288	HP:0000463	Anteverted nares	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0005288	HP:0000463	Anteverted nares	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0005288	HP:0000463	Anteverted nares	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0005288	HP:0000463	Anteverted nares	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0005288	HP:0000463	Anteverted nares	1	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0005288	HP:0000463	Anteverted nares	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0005288	HP:0000463	Anteverted nares	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0005288	HP:0000463	Anteverted nares	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0005288	HP:0000463	Anteverted nares	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0005288	HP:0000463	Anteverted nares	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0005288	HP:0000463	Anteverted nares	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0005288	HP:0000463	Anteverted nares	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0005288	HP:0000463	Anteverted nares	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0005288	HP:0000463	Anteverted nares	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0005288	HP:0000463	Anteverted nares	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0005288	HP:0000463	Anteverted nares	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	2
HP:0005288	HP:0000463	Anteverted nares	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	3
HP:0005288	HP:0000463	Anteverted nares	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0005288	HP:0000463	Anteverted nares	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0005288	HP:0000463	Anteverted nares	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0005288	HP:0000463	Anteverted nares	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0005288	HP:0000463	Anteverted nares	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0005288	HP:0000463	Anteverted nares	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0005288	HP:0009932	Single naris	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0005288	HP:0000463	Anteverted nares	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	11
HP:0005288	HP:0000463	Anteverted nares	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0005288	HP:0000463	Anteverted nares	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0005288	HP:0000463	Anteverted nares	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	244
HP:0005288	HP:0000463	Anteverted nares	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0005288	HP:0000463	Anteverted nares	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0005288	HP:0000463	Anteverted nares	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0005288	HP:0000463	Anteverted nares	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0005288	HP:0000463	Anteverted nares	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0005288	HP:0000463	Anteverted nares	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0005288	HP:0000463	Anteverted nares	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	9
HP:0005288	HP:0000463	Anteverted nares	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0005288	HP:0000463	Anteverted nares	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0005288	HP:0000463	Anteverted nares	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0005288	HP:0000463	Anteverted nares	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0005288	HP:0000463	Anteverted nares	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0005288	HP:0000463	Anteverted nares	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040282 - Frequent	134
HP:0005288	HP:0000463	Anteverted nares	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0005288	HP:0000463	Anteverted nares	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0005288	HP:0000463	Anteverted nares	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0005288	HP:0000463	Anteverted nares	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040282 - Frequent	6
HP:0005288	HP:0000463	Anteverted nares	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0005288	HP:0000463	Anteverted nares	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0005288	HP:0000463	Anteverted nares	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0005288	HP:0000463	Anteverted nares	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0005288	HP:0000463	Anteverted nares	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0005288	HP:0000463	Anteverted nares	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0005288	HP:0000463	Anteverted nares	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0005288	HP:0100596	Absent nares	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0005288	HP:0009932	Single naris	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0005288	HP:0009932	Single naris	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	665
HP:0005288	HP:0000463	Anteverted nares	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0005288	HP:0009932	Single naris	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0005288	HP:0009932	Single naris	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0005288	HP:0000463	Anteverted nares	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0005288	HP:0000463	Anteverted nares	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0005288	HP:0000463	Anteverted nares	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional	948
HP:0005288	HP:0000463	Anteverted nares	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent	58
HP:0005288	HP:0000463	Anteverted nares	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.	1
HP:0005288	HP:0000463	Anteverted nares	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0005288	HP:0000463	Anteverted nares	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0005288	HP:0000463	Anteverted nares	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0005288	HP:0000463	Anteverted nares	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0005288	HP:0000463	Anteverted nares	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	85
HP:0005288	HP:0000463	Anteverted nares	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	90
HP:0005288	HP:0000463	Anteverted nares	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0005288	HP:0000463	Anteverted nares	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	135
HP:0005288	HP:0000463	Anteverted nares	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0005288	HP:0000463	Anteverted nares	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0005288	HP:0000463	Anteverted nares	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0005288	HP:0000463	Anteverted nares	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0005288	HP:0000463	Anteverted nares	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0005288	HP:0000463	Anteverted nares	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0005288	HP:0000463	Anteverted nares	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040283 - Occasional	16
HP:0005288	HP:0000463	Anteverted nares	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0005288	HP:0000463	Anteverted nares	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.	10
HP:0005288	HP:0000463	Anteverted nares	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0005288	HP:0000463	Anteverted nares	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0005288	HP:0000463	Anteverted nares	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0005288	HP:0000463	Anteverted nares	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0005288	HP:0000463	Anteverted nares	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0005288	HP:0000463	Anteverted nares	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0005288	HP:0000463	Anteverted nares	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0005288	HP:0000463	Anteverted nares	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0005288	HP:0000463	Anteverted nares	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional	3
HP:0005288	HP:0000463	Anteverted nares	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0005288	HP:0000463	Anteverted nares	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0005288	HP:0000463	Anteverted nares	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0005288	HP:0000463	Anteverted nares	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0005288	HP:0000463	Anteverted nares	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0005288	HP:0000463	Anteverted nares	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0005288	HP:0000463	Anteverted nares	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0005288	HP:0000463	Anteverted nares	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040281 - Very frequent	120
HP:0005288	HP:0000463	Anteverted nares	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0005288	HP:0000463	Anteverted nares	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0005288	HP:0000463	Anteverted nares	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0005288	HP:0000463	Anteverted nares	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0005288	HP:0000463	Anteverted nares	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0005288	HP:0000463	Anteverted nares	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0005288	HP:0000463	Anteverted nares	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0005288	HP:0000463	Anteverted nares	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0005288	HP:0000463	Anteverted nares	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0005288	HP:0000463	Anteverted nares	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0005288	HP:0000463	Anteverted nares	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0005288	HP:0000463	Anteverted nares	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040282 - Frequent	86
HP:0005288	HP:0000463	Anteverted nares	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0005288	HP:0000463	Anteverted nares	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0005288	HP:0000463	Anteverted nares	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0005288	HP:0000463	Anteverted nares	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0005288	HP:0000463	Anteverted nares	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0005288	HP:0000463	Anteverted nares	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0005288	HP:0000463	Anteverted nares	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	126
HP:0005288	HP:0000463	Anteverted nares	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	427
HP:0005288	HP:0000463	Anteverted nares	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0005288	HP:0000463	Anteverted nares	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0005288	HP:0000463	Anteverted nares	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0005288	HP:0000463	Anteverted nares	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0005288	HP:0000463	Anteverted nares	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent	43
HP:0005288	HP:0000463	Anteverted nares	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0005288	HP:0000463	Anteverted nares	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0005288	HP:0009932	Single naris	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0005288	HP:0009932	Single naris	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0005288	HP:0009932	Single naris	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	67
HP:0005288	HP:0000463	Anteverted nares	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0005288	HP:0009932	Single naris	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0005288	HP:0009932	Single naris	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0005288	HP:0000463	Anteverted nares	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent	74
HP:0005288	HP:0000463	Anteverted nares	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	11
HP:0005288	HP:0000463	Anteverted nares	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0005288	HP:0000463	Anteverted nares	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0005288	HP:0009932	Single naris	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0005288	HP:0000463	Anteverted nares	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0000463	Anteverted nares	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0005288	HP:0000463	Anteverted nares	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0005288	HP:0000463	Anteverted nares	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0005288	HP:0000463	Anteverted nares	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0005288	HP:0000463	Anteverted nares	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	166
HP:0005288	HP:0000463	Anteverted nares	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0005288	HP:0000463	Anteverted nares	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent	166
HP:0005288	HP:0000463	Anteverted nares	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0005288	HP:0000463	Anteverted nares	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0005288	HP:0000463	Anteverted nares	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0005288	HP:0000463	Anteverted nares	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0005288	HP:0000463	Anteverted nares	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0005288	HP:0000463	Anteverted nares	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0005288	HP:0000463	Anteverted nares	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0005288	HP:0000463	Anteverted nares	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0005288	HP:0000463	Anteverted nares	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0005288	HP:0000463	Anteverted nares	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.	617
HP:0005288	HP:0000463	Anteverted nares	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0005288	HP:0000463	Anteverted nares	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.	87
HP:0005288	HP:0000463	Anteverted nares	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0005288	HP:0000463	Anteverted nares	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0005288	HP:0000463	Anteverted nares	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0005288	HP:0000463	Anteverted nares	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0005288	HP:0000463	Anteverted nares	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0005288	HP:0000463	Anteverted nares	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0005288	HP:0009932	Single naris	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0005288	HP:0000463	Anteverted nares	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0005288	HP:0000463	Anteverted nares	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0005288	HP:0100596	Absent nares	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0005288	HP:0009932	Single naris	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040281 - Very frequent	174
HP:0005288	HP:0000463	Anteverted nares	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0005288	HP:0000463	Anteverted nares	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0005288	HP:0000463	Anteverted nares	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0005288	HP:0000463	Anteverted nares	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0005288	HP:0000463	Anteverted nares	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0005288	HP:0000463	Anteverted nares	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0005288	HP:0000463	Anteverted nares	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0005288	HP:0000463	Anteverted nares	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0005288	HP:0000463	Anteverted nares	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	.
HP:0005288	HP:0000463	Anteverted nares	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0005288	HP:0000463	Anteverted nares	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0005288	HP:0000463	Anteverted nares	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0005288	HP:0000463	Anteverted nares	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0005288	HP:0000463	Anteverted nares	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0005288	HP:0009932	Single naris	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0005288	HP:0009932	Single naris	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	99
HP:0005288	HP:0009932	Single naris	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0005288	HP:0009932	Single naris	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0005288	HP:0000463	Anteverted nares	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0005288	HP:0000463	Anteverted nares	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0005288	HP:0000463	Anteverted nares	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0005288	HP:0000463	Anteverted nares	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent	80
HP:0005288	HP:0000463	Anteverted nares	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0005288	HP:0000463	Anteverted nares	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0005288	HP:0000463	Anteverted nares	1	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:0005288	HP:0000463	Anteverted nares	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0005288	HP:0000463	Anteverted nares	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent	15
HP:0005288	HP:0000463	Anteverted nares	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0005288	HP:0000463	Anteverted nares	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0005288	HP:0000463	Anteverted nares	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent	271
HP:0005288	HP:0000463	Anteverted nares	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0005288	HP:0000463	Anteverted nares	1	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040282 - Frequent	19
HP:0005288	HP:0000463	Anteverted nares	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0005288	HP:0000463	Anteverted nares	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0005288	HP:0000463	Anteverted nares	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0005288	HP:0009932	Single naris	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	1
HP:0005288	HP:0000463	Anteverted nares	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0005288	HP:0009932	Single naris	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	32
HP:0005288	HP:0000463	Anteverted nares	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0009932	Single naris	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0005288	HP:0000463	Anteverted nares	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0005288	HP:0000463	Anteverted nares	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	39
HP:0005288	HP:0000463	Anteverted nares	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	45
HP:0005288	HP:0000463	Anteverted nares	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	33
HP:0005288	HP:0000463	Anteverted nares	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0005288	HP:0000463	Anteverted nares	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	82
HP:0005288	HP:0000463	Anteverted nares	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0005288	HP:0000463	Anteverted nares	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0005288	HP:0000463	Anteverted nares	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0005288	HP:0000463	Anteverted nares	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0005288	HP:0000463	Anteverted nares	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	166
HP:0005288	HP:0000463	Anteverted nares	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0005288	HP:0000463	Anteverted nares	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0005288	HP:0000463	Anteverted nares	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0005288	HP:0000463	Anteverted nares	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0005288	HP:0000463	Anteverted nares	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0005288	HP:0000463	Anteverted nares	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0005288	HP:0000463	Anteverted nares	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0005288	HP:0000463	Anteverted nares	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare	1
HP:0005288	HP:0000463	Anteverted nares	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0005288	HP:0000463	Anteverted nares	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent	133
HP:0005288	HP:0000463	Anteverted nares	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0005288	HP:0000463	Anteverted nares	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0005288	HP:0000463	Anteverted nares	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0005288	HP:0000463	Anteverted nares	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0005288	HP:0000463	Anteverted nares	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0005288	HP:0000463	Anteverted nares	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0005288	HP:0000463	Anteverted nares	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0005288	HP:0000463	Anteverted nares	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent	61
HP:0005288	HP:0000463	Anteverted nares	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0005288	HP:0000463	Anteverted nares	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0005288	HP:0000463	Anteverted nares	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0005288	HP:0000463	Anteverted nares	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040281 - Very frequent	7
HP:0005288	HP:0000463	Anteverted nares	1	TXNDC15 CL E G H	79770	20652	OMIM:619879			2
HP:0005288	HP:0000463	Anteverted nares	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0005288	HP:0000463	Anteverted nares	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0005288	HP:0009931	Enlarged naris	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0005288	HP:0000463	Anteverted nares	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0005288	HP:0000463	Anteverted nares	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0005288	HP:0000463	Anteverted nares	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0005288	HP:0000463	Anteverted nares	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0005288	HP:0000463	Anteverted nares	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0005288	HP:0000463	Anteverted nares	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0005288	HP:0000463	Anteverted nares	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0005288	HP:0000463	Anteverted nares	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0005288	HP:0000463	Anteverted nares	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0005288	HP:0000463	Anteverted nares	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0005288	HP:0000463	Anteverted nares	1	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	.
HP:0005288	HP:0000463	Anteverted nares	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0005288	HP:0009932	Single naris	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12
HP:0005288	HP:0000463	Anteverted nares	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040281 - Very frequent	98
HP:0005288	HP:0000463	Anteverted nares	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0005288	HP:0000463	Anteverted nares	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040281 - Very frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0005288	HP:0000463	Anteverted nares	1	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9
HP:0005288	HP:0000463	Anteverted nares	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0005288	HP:0000463	Anteverted nares	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0005288	HP:0009932	Single naris	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0005288	HP:0000463	Anteverted nares	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0005288	HP:0009932	Single naris	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040284 - Very rare	34
HP:0005288	HP:0000463	Anteverted nares	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0005288	HP:0009932	Single naris	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0005288	HP:0009932	Single naris	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0005288	HP:0000463	Anteverted nares	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0005288	HP:0000463	Anteverted nares	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0005288	HP:0000463	Anteverted nares	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0005288	HP:0000463	Anteverted nares	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional	49
HP:0005288	HP:0000463	Anteverted nares	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0005288	HP:0000463	Anteverted nares	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0005288	HP:0000463	Anteverted nares	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0005288	HP:0000463	Anteverted nares	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1