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:
Abnormal femoral head morphology (HP:0003368)

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

..Starting node
..Hypoplasia of the femoral head (HP:0008802)

Term ID:

8802

Name:

Hypoplasia of the femoral head

Synonym:

Hypoplastic femoral head; Small femoral heads; Small head of thigh bone

Definition:

Underdevelopment of the femoral head.

Comments:

Reference:

HP:0008802

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the femoral head (HP:0100862)

Aplasia of the femoral neck (HP:0100863)

Short femoral neck (HP:0100864)

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:0008802	HP:0008802	Hypoplasia of the femoral head	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0008802	HP:0008802	Hypoplasia of the femoral head	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0008802	HP:0008802	Hypoplasia of the femoral head	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6
HP:0008802	HP:0008802	Hypoplasia of the femoral head	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0008802	HP:0008802	Hypoplasia of the femoral head	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional	6

Genes (5) :IDUA IFNGR1 POP1 SLC26A2 TRAF3IP1

Diseases (5) :OMIM:607014 OMIM:209950 OMIM:617396 OMIM:226900 OMIM:616629

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