Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 external nose morphology (HP:0010938)

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

..Starting node
..Flared nostrils (HP:0000454)

Term ID:

454

Name:

Flared nostrils

Synonym:

Flared nasal alae; Flared nostrils

Definition:

Comments:

Reference:

HP:0000454

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Cartilaginous ossification of nose (HP:0005275)

Cleft ala nasi (HP:0003191)

Flat nasal alae (HP:0010649)

Thick nasal alae (HP:0009928)

Underdeveloped nasal alae (HP:0000430)

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:0000454	HP:0000454	Flared nostrils	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0000454	HP:0000454	Flared nostrils	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0000454	HP:0000454	Flared nostrils	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000454	HP:0000454	Flared nostrils	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0000454	HP:0000454	Flared nostrils	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0000454	HP:0000454	Flared nostrils	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0000454	HP:0000454	Flared nostrils	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0000454	HP:0000454	Flared nostrils	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000454	HP:0000454	Flared nostrils	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0000454	HP:0000454	Flared nostrils	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0000454	HP:0000454	Flared nostrils	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (10) :ANKRD17 BRCC3 CAMTA1 CDC42 NAA10 PDHA1 SIN3A SMOC1 TCF4 USP9X

Diseases (11) :OMIM:619504 ORPHA:280679 OMIM:614756 ORPHA:487796 OMIM:616737 OMIM:300855 OMIM:312170 OMIM:613406 OMIM:206920 OMIM:610954 ORPHA:480880

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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