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 femur morphology (HP:0002823)

Grandparent Node:
Abnormality of lower limb epiphysis morphology (HP:0006500)

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

..Starting node
..Abnormality of the distal femoral epiphysis (HP:0010590)

Term ID:

10590

Name:

Abnormality of the distal femoral epiphysis

Synonym:

Abnormality of the end part of the outermost thighbone

Definition:

Any abnormality of the distal epiphysis of the femur.

Comments:

Reference:

HP:0010590

Genes and Diseases:

Child Nodes:

........

Flat distal femoral epiphysis (HP:0006398)

........

Irregular distal femoral epiphysis (HP:0006407)

........

Enlargement of the distal femoral epiphysis (HP:0006438)

........

Small distal femoral epiphysis (HP:0012283)

Sister Nodes:

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

Irregular femoral epiphysis (HP:0006361)

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:0010590	HP:0010590	Abnormality of the distal femoral epiphysis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0010590	HP:0010590	Abnormality of the distal femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0010590	HP:0010590	Abnormality of the distal femoral epiphysis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0010590	HP:0006407	Irregular distal femoral epiphysis	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010590	HP:0012283	Small distal femoral epiphysis	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010590	HP:0006398	Flat distal femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0010590	HP:0006407	Irregular distal femoral epiphysis	1	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110
HP:0010590	HP:0006438	Enlargement of the distal femoral epiphysis	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44

Genes (3) :COL11A1 COL9A1 IHH

Diseases (3) :OMIM:154780 OMIM:614135 OMIM:607778

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