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 head morphology (HP:0003368)

Grandparent Node:
Abnormality of femoral epiphysis (HP:0006499)

Parent Node:
Abnormal epiphyseal ossification (HP:0010656)

Parent Node:
Abnormal ossification involving the femoral head and neck (HP:0009107)

Parent Node:
Abnormality of the epiphysis of the femoral head (HP:0010574)

..Starting node
..Early ossification of capital femoral epiphyses (HP:0008797)

Term ID:

8797

Name:

Early ossification of capital femoral epiphyses

Synonym:

Definition:

Developmental acceleration of ossification of the proximal epiphysis of the femur.

Comments:

Reference:

HP:0008797

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

Avascular necrosis of the capital femoral epiphysis (HP:0005743)

Cone-shaped capital femoral epiphysis (HP:0008789)

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Enlargement of the proximal femoral epiphysis (HP:0003371)

Flat capital femoral epiphysis (HP:0003370)

Irregular capital femoral epiphysis (HP:0005041)

Multicentric ossification of proximal femoral epiphyses (HP:0006450)

Proximal femoral epiphysiolysis (HP:0006461)

Wide capital femoral epiphyses (HP:0008784)

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:0008797	HP:0008797	Early ossification of capital femoral epiphyses	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0008797	HP:0008797	Early ossification of capital femoral epiphyses	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24

Genes (2) :CSPP1 KIAA0586

Diseases (1) :ORPHA:397715

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