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 limbs (HP:0040064)

Grandparent Node:
Aplasia/hypoplasia involving the skeleton (HP:0009115)

Parent Node:
Aplasia/hypoplasia of the extremities (HP:0009815)

..Starting node
..Acromelia (HP:0010884)

Term ID:

10884

Name:

Acromelia

Synonym:

Definition:

Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.

Comments:

Reference:

HP:0010884

Genes and Diseases:

Child Nodes:

........

Acromelia of the upper limbs (HP:0010482)

........

Acromelia of the lower limbs (HP:0010494)

Sister Nodes:

Amelia (HP:0009827)

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

Limb undergrowth (HP:0009826)

Peromelia (HP:0009828)

Phocomelia (HP:0009829)

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:0010884	HP:0010884	Acromelia	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	39
HP:0010884	HP:0010494	Acromelia of the lower limbs	1	CL E G H
HP:0010884	HP:0010482	Acromelia of the upper limbs	1	CL E G H

Genes (1) :CTSK

Diseases (1) :ORPHA:763

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