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 feet (HP:0006494)

Parent Node:
Peromelia (HP:0009828)

..Starting node
..Lower limb peromelia (HP:0009820)

Term ID:

9820

Name:

Lower limb peromelia

Synonym:

Definition:

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

Comments:

Reference:

HP:0009820

Genes and Diseases:

Child Nodes:

Sister Nodes:

Upper limb peromelia (HP:0009814)

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:0009820	HP:0009820	Lower limb peromelia	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP	106

Genes (1) :LMBR1

Diseases (1) :OMIM:200500

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