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 femoral neck/head morphology (HP:0003366)

Grandparent Node:
Aplasia/Hypoplasia involving the pelvis (HP:0009103)

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

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

..Starting node
..Aplasia of the femoral neck (HP:0100863)

Term ID:

100863

Name:

Aplasia of the femoral neck

Synonym:

Absent neck of thighbone

Definition:

Comments:

Reference:

HP:0100863

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the femoral head (HP:0100862)

Hypoplasia of the femoral head (HP:0008802)

Short femoral neck (HP:0100864)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100863	HP:0100863	Aplasia of the femoral neck	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.