Human Phenotype Ontology

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

Grandparent Node:
Abnormal nasal morphology (HP:0005105)

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

Parent Node:
Aplasia/Hypoplasia involving the nose (HP:0009924)

..Starting node
..Underdeveloped nasal alae (HP:0000430)

Term ID:

430

Name:

Underdeveloped nasal alae

Synonym:

Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril

Definition:

Thinned, deficient, or excessively arched ala nasi.

Comments:

Reference:

HP:0000430

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the nose (HP:0009927)

Aplasia/Hypoplasia of the nasal septum (HP:0009935)

Hypoplasia of the nasal bone (HP:0004646)

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:0000430	HP:0000430	Underdeveloped nasal alae	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent	132
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	132
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040281 - Very frequent	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional	134
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	102
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040282 - Frequent	18
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	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:0000430	HP:0000430	Underdeveloped nasal alae	0	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:0000430	HP:0000430	Underdeveloped nasal alae	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MITF CL E G H	4286	7105	OMIM:193510	Waardenburg syndrome, type 2A	.	91
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	166
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent	48
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.	201
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent	201
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.	59
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent	2
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.	759
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	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:0000430	HP:0000430	Underdeveloped nasal alae	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB		53
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.	15
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040282 - Frequent	61
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.	140
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome	.	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent	25
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000430	HP:0000430	Underdeveloped nasal alae	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8

Genes (96) :ALG9 ALX1 ALX4 ANKRD11 ASXL3 ATP6V1B2 BCR BICRA CENPJ CKAP2L CLP1 COL3A1 CREBBP CRKL CTNNB1 CWC27 DDB1 DDR2 DGCR2 DGCR6 DGCR8 DYRK1A EDA EDEM3 EDN3 EDNRB EIF5A ESCO2 ESS2 EXT2 FGF3 FLNB FRAS1 FREM2 GJA1 GMNN GRIP1 H3-3A HDAC4 HNRNPH2 HNRNPK IARS2 KANSL1 KCNJ6 LMBR1 MADD MAPK1 MGP MITF MTX2 MVK MYH3 MYMX MYO18B NAA10 NALCN NEXMIF NFIX NOG NSUN2 OFD1 ORC4 PAX3 PCNT PHF21A PIK3R1 PLEC PPP1CB PPP2R3C PRPS1 PURA PYCR1 RDH11 RECQL4 RIPK4 RNU4ATAC SCARF2 SCNM1 SIN3A SLC37A4 SMARCA2 SOX10 SOX11 SPATA5 SRCAP TAF6 TBX1 TP63 TRIO TRPS1 TWIST1 TWIST2 TXNL4A UBE2A UBR1 USB1

Diseases (112) :ORPHA:79328 OMIM:263210 OMIM:613456 ORPHA:306542 ORPHA:228390 ORPHA:52022 ORPHA:2332 OMIM:148050 ORPHA:352577 OMIM:615485 OMIM:616455 ORPHA:261330 OMIM:619325 OMIM:613676 OMIM:272440 ORPHA:3255 ORPHA:411493 OMIM:615803 OMIM:618343 OMIM:618332 ORPHA:404473 ORPHA:166035 OMIM:250410 OMIM:619426 OMIM:618175 OMIM:192430 ORPHA:268261 OMIM:305100 OMIM:619493 ORPHA:897 OMIM:619376 ORPHA:3103 OMIM:268300 ORPHA:90024 OMIM:112310 ORPHA:2052 OMIM:219000 OMIM:617666 ORPHA:2710 OMIM:164200 OMIM:257850 OMIM:616835 OMIM:619720 ORPHA:1001 OMIM:300986 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:616007 ORPHA:363958 ORPHA:363965 OMIM:614098 ORPHA:435628 ORPHA:2378 OMIM:135750 OMIM:619005 ORPHA:85202 OMIM:193510 OMIM:619127 OMIM:610377 OMIM:193700 ORPHA:2053 OMIM:619941 OMIM:616549 OMIM:300855 ORPHA:276432 OMIM:300912 ORPHA:447980 OMIM:186500 OMIM:184460 OMIM:611091 OMIM:311200 ORPHA:2750 OMIM:613800 ORPHA:894 OMIM:193500 ORPHA:2637 OMIM:269880 OMIM:612138 OMIM:617506 OMIM:618419 ORPHA:423479 OMIM:616158 ORPHA:438216 OMIM:614438 ORPHA:436245 OMIM:218600 ORPHA:1234 OMIM:263650 OMIM:616651 ORPHA:353298 OMIM:600920 OMIM:620107 OMIM:613406 OMIM:619525 OMIM:619293 ORPHA:163746 OMIM:615866 ORPHA:457351 OMIM:136140 OMIM:617126 OMIM:129400 OMIM:618825 OMIM:190351 OMIM:617746 ORPHA:920 OMIM:209885 OMIM:608572 ORPHA:163956 ORPHA:2315 OMIM:243800 OMIM:604173

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

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