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:
Absent forearm bone (HP:0003953)

Grandparent Node:
Aplasia involving forearm bones (HP:0009822)

Grandparent Node:
Aplasia/Hypoplasia of the radius (HP:0006501)

Parent Node:
Absent radius (HP:0003974)

..Starting node
..Bilateral radial aplasia (HP:0004977)

Term ID:

4977

Name:

Bilateral radial aplasia

Synonym:

Bilateral absence of radius

Definition:

Missing radius bone on both sides associated with congenital failure of development.

Comments:

Reference:

HP:0004977

Genes and Diseases:

Child Nodes:

Sister Nodes:

Unilateral radial aplasia (HP:0011908)

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:0004977	HP:0004977	Bilateral radial aplasia	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB	58
HP:0004977	HP:0004977	Bilateral radial aplasia	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	10

Genes (2) :FANCB RBM8A

Diseases (2) :OMIM:300514 OMIM:274000

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