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:
Fragmented epiphyses (HP:0100168)

Parent Node:
Irregular epiphyses (HP:0010582)

..Starting node
..Fragmented, irregular epiphyses (HP:0005063)

Term ID:

5063

Name:

Fragmented, irregular epiphyses

Synonym:

Fragmented, irregular end part of bone

Definition:

Comments:

Reference:

HP:0005063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular epiphyses of the toes (HP:0010167)

Irregular epiphyses of the upper limbs (HP:0003842)

Irregular femoral epiphysis (HP:0006361)

Irregular proximal tibial epiphyses (HP:0006456)

Irregular radial epiphyses (HP:0004004)

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:0005063	HP:0005063	Fragmented, irregular epiphyses	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia	.	89

Genes (1) :COMP

Diseases (1) :OMIM:177170

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