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 external nose morphology (HP:0010938)

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

..Starting node
..Cartilaginous ossification of nose (HP:0005275)

Term ID:

5275

Name:

Cartilaginous ossification of nose

Synonym:

Cartilaginous nasal ossification

Definition:

Comments:

Reference:

HP:0005275

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Cleft ala nasi (HP:0003191)

Flared nostrils (HP:0000454)

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:0005275	HP:0005275	Cartilaginous ossification of nose	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33

Genes (1) :MGP

Diseases (1) :OMIM:245150

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