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 femur morphology (HP:0002823)

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

Parent Node:
Aplasia/hypoplasia of the femur (HP:0005613)

..Starting node
..Proximal femoral focal deficiency (HP:0030772)

Term ID:

30772

Name:

Proximal femoral focal deficiency

Synonym:

Definition:

Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.

Comments:

Reference:

HP:0030772

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Femoral aplasia (HP:0012744)

Short femur (HP:0003097)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030772	HP:0030772	Proximal femoral focal deficiency	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.