Human Phenotype Ontology

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 epiphysis morphology of the phalanges of the hand (HP:0005920)

Grandparent Node:
Small epiphyses (HP:0010585)

Parent Node:
Abnormality of thumb epiphysis (HP:0009599)

Parent Node:
Small epiphyses of the phalanges of the hand (HP:0010236)

..Starting node
..Small thumb epiphysis (HP:0009694)

Term ID:

9694

Name:

Small thumb epiphysis

Synonym:

Small end part of thumb long bone; Small epiphyses of the thumb

Definition:

Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.

Comments:

Reference:

HP:0009694

Genes and Diseases:

Child Nodes:

........

Small epiphysis of the proximal phalanx of the thumb (HP:0009672)

........

Small epiphysis of the distal phalanx of the thumb (HP:0009683)

Sister Nodes:

Small epiphyses of the 2nd finger (HP:0009496)

Small epiphyses of the 3rd finger (HP:0009418)

Small epiphyses of the 4th finger (HP:0009401)

Small epiphyses of the 5th finger (HP:0009390)

Small epiphyses of the distal phalanges of the hand (HP:0010254)

Small epiphyses of the middle phalanges of the hand (HP:0010265)

Small epiphyses of the proximal phalanges of the hand (HP:0010276)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009694	HP:0009694	Small thumb epiphysis	0	CL E G H
HP:0009694	HP:0009672	Small epiphysis of the proximal phalanx of the thumb	1	CL E G H
HP:0009694	HP:0009683	Small epiphysis of the distal phalanx of the thumb	1	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.