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:
Abnormally shaped carpal bones (HP:0006014)

Parent Node:
Large carpal bones (HP:0004237)

..Starting node
..Broad carpal bones (HP:0004242)

Term ID:

4242

Name:

Broad carpal bones

Synonym:

Wide carpal bones; Wide wrist bones

Definition:

Comments:

Reference:

HP:0004242

Genes and Diseases:

Child Nodes:

........

Wide hamate bone (HP:0004261)

Sister Nodes:

Large capitate bone (HP:0004263)

Large hamate bone (HP:0004260)

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:0004242	HP:0004242	Broad carpal bones	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0004242	HP:0004242	Broad carpal bones	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004242	HP:0004261	Wide hamate bone	1	CL E G H

Genes (2) :DYM IDH1

Diseases (2) :ORPHA:239 ORPHA:99646

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