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 radial epiphyses (HP:0003999)

Parent Node:
Enlarged epiphyses (HP:0010580)

..Starting node
..Large radial epiphyses (HP:0004005)

Term ID:

4005

Name:

Large radial epiphyses

Synonym:

Definition:

Comments:

Reference:

HP:0004005

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)

Enlargement of the proximal femoral epiphysis (HP:0003371)

Large humeral epiphyses (HP:0003898)

Wide epiphyses of the upper limbs (HP:0003904)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004005	HP:0004005	Large radial epiphyses	0	CL E G H

Genes (0) :

Diseases (0) :

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