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 femoral epiphysis (HP:0006499)

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

..Starting node
..Small distal femoral epiphysis (HP:0012283)

Term ID:

12283

Name:

Small distal femoral epiphysis

Synonym:

Small end part of outermost thighbone

Definition:

Reduced size of the Distal epiphysis of femur.

Comments:

Reference:

HP:0012283

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlargement of the distal femoral epiphysis (HP:0006438)

Flat distal femoral epiphysis (HP:0006398)

Irregular distal femoral epiphysis (HP:0006407)

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:0012283	HP:0012283	Small distal femoral epiphysis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215

Genes (1) :COL11A1

Diseases (1) :OMIM:154780

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