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:
Aplasia/Hypoplasia of toe (HP:0001991)

Grandparent Node:
Short digit (HP:0011927)

Parent Node:
Short toe (HP:0001831)

..Starting node
..Short 3rd toe (HP:0005643)

Term ID:

5643

Name:

Short 3rd toe

Synonym:

Brachydactyly of third toes; Short 3rd toe; Short third toe

Definition:

Underdevelopment (hypoplasia) of the third toe.

Comments:

Reference:

HP:0005643

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short 2nd toe (HP:0001885)

Short 4th toe (HP:0008093)

Short 5th toe (HP:0011917)

Short hallux (HP:0010109)

Short middle phalanx of toe (HP:0003795)

Short proximal phalanx of toe (HP:0011928)

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

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005643	HP:0005643	Short 3rd toe	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0005643	HP:0005643	Short 3rd toe	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0005643	HP:0005643	Short 3rd toe	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS

Genes (3) :COX4I1 SVBP WASF1

Diseases (3) :OMIM:619060 OMIM:618569 OMIM:618707

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