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 of the extremities (HP:0009815)

Parent Node:
Acromelia (HP:0010884)

..Starting node
..Acromelia of the upper limbs (HP:0010482)

Term ID:

10482

Name:

Acromelia of the upper limbs

Synonym:

Definition:

Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.

Comments:

Reference:

HP:0010482

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acromelia of the lower limbs (HP:0010494)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010482	HP:0010482	Acromelia of 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.