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:
Abnormal long bone morphology (HP:0011314)

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

Parent Node:
Aplasia/hypoplasia involving bones of the lower limbs (HP:0006493)

Parent Node:
Phocomelia (HP:0009829)

..Starting node
..Lower limb phocomelia (HP:0009819)

Term ID:

9819

Name:

Lower limb phocomelia

Synonym:

Definition:

Phocomelia affecting only the lower limbs.

Comments:

Reference:

HP:0009819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Tetraphocomelia (HP:0030721)

Upper limb phocomelia (HP:0009813)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009819	HP:0009819	Lower limb phocomelia	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.