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 middle phalanges of the hand (HP:0010244)

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

Parent Node:
Abnormality of the epiphysis of the middle phalanx of the 4th finger (HP:0009247)

Parent Node:
Enlarged epiphyses of the 4th finger (HP:0009396)

Parent Node:
Enlarged epiphyses of the middle phalanges of the hand (HP:0010260)

..Starting node
..Enlarged epiphysis of the middle phalanx of the 4th finger (HP:0009217)

Term ID:

9217

Name:

Enlarged epiphysis of the middle phalanx of the 4th finger

Synonym:

Enlarged end part of the middle bone of the ring finger

Definition:

Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.

Comments:

Reference:

HP:0009217

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516)

Enlarged epiphysis of the middle phalanx of the 3rd finger (HP:0009324)

Enlarged epiphysis of the middle phalanx of the 5th finger (HP:0009206)

Enlarged epiphysis of the proximal phalanx of the thumb (HP:0009667)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009217	HP:0009217	Enlarged epiphysis of the middle phalanx of the 4th finger	0	CL E G H

Genes (0) :

Diseases (0) :

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