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:
Short digit (HP:0011927)

Parent Node:
Brachydactyly (HP:0001156)

..Starting node
..Brachytelomesophalangy (HP:0005872)

Term ID:

5872

Name:

Brachytelomesophalangy

Synonym:

Progressive brachydactyly of middle and distal phalanges; Short middle and distal phalanges of digits ii through v

Definition:

Disproportionately short middle and distal phalanges compared to the hand/foot.

Comments:

Reference:

HP:0005872

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type A brachydactyly (HP:0009370)

Type B brachydactyly (HP:0005831)

Type C brachydactyly (HP:0009373)

Type D brachydactyly (HP:0005627)

Type E brachydactyly (HP:0005863)

Unilateral brachydactyly (HP:0006008)

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:0005872	HP:0005872	Brachytelomesophalangy	0	TRPV4 CL E G H	59341	18083	OMIM:606835	Digital arthropathy-brachydactyly, familial	.	214

Genes (1) :TRPV4

Diseases (1) :OMIM:606835

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