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:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4		161
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome		88
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome		67
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome		55
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GHR CL E G H	2690	4263	ORPHA:633	Laron syndrome	HP:0040281 - Very frequent	98
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A		91
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome		91
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome		166
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome		48
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2		21
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PAX3 CL E G H	5077	8617	ORPHA:1529	Craniofacial-deafness-hand syndrome	HP:0040281 - Very frequent	59
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1		59
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II		531
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome		43
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	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:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease		61
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome		61
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome		25
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG		78
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent	12
HP:0009924	HP:0009924	Aplasia/Hypoplasia involving the nose	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent	18
HP:0009924	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009924	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent	201
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0009924	HP:0004646	Hypoplasia of the nasal bone	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0009924	HP:0004646	Hypoplasia of the nasal bone	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0009924	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0009924	HP:0000430	Underdeveloped nasal alae	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:0009924	HP:0000430	Underdeveloped nasal alae	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009924	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0009924	HP:0009927	Aplasia of the nose	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009924	HP:0009927	Aplasia of the nose	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0009924	HP:0009935	Aplasia/Hypoplasia of the nasal septum	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0009924	HP:0004646	Hypoplasia of the nasal bone	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0009924	HP:0000430	Underdeveloped nasal alae	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0009924	HP:0004646	Hypoplasia of the nasal bone	1	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.	78
HP:0009924	HP:0005104	Hypoplastic nasal septum	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0009924	HP:0005104	Hypoplastic nasal septum	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009924	HP:0005273	Absent nasal septal cartilage	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0009924	HP:0005273	Absent nasal septal cartilage	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0009924	HP:0005273	Absent nasal septal cartilage	2	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32