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 involving forearm bones (HP:0006503)

Grandparent Node:
obsolete Abnormal morphology of bones of the upper limbs (HP:0040065)

Grandparent Node:
Short long bone (HP:0003026)

Grandparent Node:
Upper limb undergrowth (HP:0009824)

Parent Node:
Forearm undergrowth (HP:0009821)

..Starting node
..Short forearm (HP:0005773)

Term ID:

5773

Name:

Short forearm

Synonym:

Short forearm

Definition:

Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.

Comments:

Reference:

HP:0005773

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the radius (HP:0002984)

Hypoplasia of the ulna (HP:0003022)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005773	HP:0005773	Short forearm	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	10

Genes (1) :RBM8A

Diseases (1) :OMIM:274000

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