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:
Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Grandparent Node:
Shortening of all phalanges of the toes (HP:0005035)

Parent Node:
Short distal phalanx of toe (HP:0001857)

..Starting node
..Shortening of all distal phalanges of the toes (HP:0005793)

Term ID:

5793

Name:

Shortening of all distal phalanges of the toes

Synonym:

Shortening of all outermost bone of the toes

Definition:

Abnormally short distal phalanx of toe of all toes.

Comments:

Reference:

HP:0005793

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005793	HP:0005793	Shortening of all distal phalanges of the toes	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0005793	HP:0005793	Shortening of all distal phalanges of the toes	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0005793	HP:0005793	Shortening of all distal phalanges of the toes	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (3) :FIG4 TRPV4 VAC14

Diseases (2) :ORPHA:3472 ORPHA:85169

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