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:
Abnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)

Grandparent Node:
Enlarged epiphyses of the phalanges of the hand (HP:0010231)

Parent Node:
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501)

Parent Node:
Enlarged epiphyses of the 2nd finger (HP:0009491)

Parent Node:
Enlarged epiphyses of the proximal phalanges of the hand (HP:0010271)

..Starting node
..Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)

Term ID:

9527

Name:

Enlarged epiphysis of the proximal phalanx of the 2nd finger

Synonym:

Enlarged end part of innermost long bone of index finger; Large epiphysis of proximal index finger phalanx

Definition:

Comments:

Reference:

HP:0009527

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged epiphysis of the 1st metacarpal (HP:0010018)

Enlarged epiphysis of the proximal phalanx of the 3rd finger (HP:0009349)

Enlarged epiphysis of the proximal phalanx of the 4th finger (HP:0009264)

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:0009527	HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52

Genes (1) :GDF5

Diseases (1) :OMIM:113100

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