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 middle phalanges of the toes (HP:0010183)

Grandparent Node:
Short toe (HP:0001831)

Parent Node:
Short middle phalanx of toe (HP:0003795)

..Starting node
..Shortening of all middle phalanges of the toes (HP:0006239)

Term ID:

6239

Name:

Shortening of all middle phalanges of the toes

Synonym:

Brachymesophalangy of feet; Shortening of all the middle bones of the toes

Definition:

Abnormal shortening of all middle phalanges of toes.

Comments:

Reference:

HP:0006239

Genes and Diseases:

Child Nodes:

Sister Nodes:

2nd-5th toe middle phalangeal hypoplasia (HP:0008083)

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:0006239	HP:0006239	Shortening of all middle phalanges of the toes	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214

Genes (1) :TRPV4

Diseases (1) :ORPHA:85169

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