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

Parent Node:
Peromelia (HP:0009828)

..Starting node
..Upper limb peromelia (HP:0009814)

Term ID:

9814

Name:

Upper limb peromelia

Synonym:

Definition:

Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.

Comments:

Reference:

HP:0009814

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower limb peromelia (HP:0009820)

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:0009814	HP:0009814	Upper limb peromelia	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2

Genes (1) :CDH11

Diseases (1) :ORPHA:1299

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