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:
Flattened epiphysis (HP:0003071)

Parent Node:
Abnormality of the distal femoral epiphysis (HP:0010590)

Parent Node:
Flattened femoral epiphysis (HP:0030289)

..Starting node
..Flat distal femoral epiphysis (HP:0006398)

Term ID:

6398

Name:

Flat distal femoral epiphysis

Synonym:

Flat end part of outermost thighbone; Flattened distal femoral epiphyses

Definition:

An abnormal flattening of the distal epiphysis of femur.

Comments:

Reference:

HP:0006398

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flat capital femoral epiphysis (HP:0003370)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006398	HP:0006398	Flat distal femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6	110

Genes (1) :COL9A1

Diseases (1) :OMIM:614135

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