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 epiphysis morphology (HP:0005930)

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

Parent Node:
Enlarged epiphyses (HP:0010580)

..Starting node
..Enlargement of the proximal femoral epiphysis (HP:0003371)

Term ID:

3371

Name:

Enlargement of the proximal femoral epiphysis

Synonym:

Enlarged capital femoral epiphyses; Enlarged end part of innermost thighbone

Definition:

An abnormal enlargement of the proximal epiphysis of the femur.

Comments:

Reference:

HP:0003371

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bulging epiphyses (HP:0003013)

Enlarged epiphyses of the phalanges of the hand (HP:0010231)

Enlarged epiphyses of the toes (HP:0010165)

Enlarged metacarpal epiphyses (HP:0006134)

Large humeral epiphyses (HP:0003898)

Large radial epiphyses (HP:0004005)

Wide epiphyses of the upper limbs (HP:0003904)

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:0003371	HP:0003371	Enlargement of the proximal femoral epiphysis	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003371	HP:0003371	Enlargement of the proximal femoral epiphysis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003371	HP:0003371	Enlargement of the proximal femoral epiphysis	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79

Genes (2) :CCN6 COL10A1

Diseases (3) :OMIM:208230 ORPHA:1159 OMIM:156500

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