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:
Abnormality of the humerus (HP:0003063)

Grandparent Node:
Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)

Parent Node:
Aplasia/hypoplasia of the humerus (HP:0006507)

..Starting node
..Absent humerus (HP:0003862)

Term ID:

3862

Name:

Absent humerus

Synonym:

Absent long bone in upper arm; Aplasia of the humerus; Aplastic humerus

Definition:

Missing humerus bone associated with congenital failure of development.

Comments:

Reference:

HP:0003862

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic distal humeri (HP:0005025)

Short humerus (HP:0005792)

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:0003862	HP:0003862	Absent humerus	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233

Genes (1) :FLNB

Diseases (1) :ORPHA:56305

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