Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 epiphyseal ossification (HP:0010656)

Grandparent Node:
Abnormal humeral ossification (HP:0012791)

Grandparent Node:
Abnormality of the humeral epiphysis (HP:0003891)

Parent Node:
Irregular ossification of the humeral epiphyses (HP:0003897)

..Starting node
..Multicentric ossification of proximal humeral epiphyses (HP:0004997)

Term ID:

4997

Name:

Multicentric ossification of proximal humeral epiphyses

Synonym:

Definition:

Comments:

Reference:

HP:0004997

Genes and Diseases:

Child Nodes:

Sister Nodes:

Epiphyseal stippling of the humerus (HP:0003902)

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:0004997	HP:0004997	Multicentric ossification of proximal humeral epiphyses	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65

Genes (1) :DYM

Diseases (1) :OMIM:223800

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