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 upper limb (HP:0002817)

Grandparent Node:
Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Parent Node:
Amelia (HP:0009827)

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

..Starting node
..Amelia involving the upper limbs (HP:0009812)

Term ID:

9812

Name:

Amelia involving the upper limbs

Synonym:

Definition:

Amelia of one or both upper limbs.

Comments:

Reference:

HP:0009812

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia involving bones of the upper limbs (HP:0009823)

Aplasia/hypoplasia involving bones of the hand (HP:0005927)

Aplasia/hypoplasia involving forearm bones (HP:0006503)

Aplasia/hypoplasia of the humerus (HP:0006507)

Upper limb peromelia (HP:0009814)

Upper limb phocomelia (HP:0009813)

Upper limb undergrowth (HP:0009824)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009812	HP:0009812	Amelia involving the upper limbs	0	CL E G H

Genes (0) :

Diseases (0) :

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