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 the humerus (HP:0003063)

Grandparent Node:
Abnormality of upper limb epiphysis morphology (HP:0003839)

Parent Node:
Abnormal epiphyseal ossification (HP:0010656)

Parent Node:
Abnormal humeral ossification (HP:0012791)

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

..Starting node
..Irregular ossification of the humeral epiphyses (HP:0003897)

Term ID:

3897

Name:

Irregular ossification of the humeral epiphyses

Synonym:

Irregular maturation of the end part of the long bone in upper arm

Definition:

Comments:

Reference:

HP:0003897

Genes and Diseases:

Child Nodes:

........

Epiphyseal stippling of the humerus (HP:0003902)

........

Multicentric ossification of proximal humeral epiphyses (HP:0004997)

Sister Nodes:

Abnormality of the distal humeral epiphysis (HP:0010599)

Abnormality of the humeral epiphyseal plate (HP:0003905)

Abnormality of the proximal humeral epiphysis (HP:0010598)

Absent humeral epiphyseal ossification (HP:0003892)

Advanced ossification of the humeral epiphysis (HP:0003893)

Broad humeral epiphyses (HP:0003903)

Delayed humeral epiphyseal ossification (HP:0003894)

Flattened humeral epiphyses (HP:0003895)

Irregular humeral epiphyses (HP:0003896)

Large humeral epiphyses (HP:0003898)

Round humeral epiphyses (HP:0003899)

Small humeral epiphyses (HP:0003900)

Stippled calcification of the humeral epiphyses (HP:0003901)

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:0003897	HP:0003897	Irregular ossification of the humeral epiphyses	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003897	HP:0003897	Irregular ossification of the humeral epiphyses	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0003897	HP:0004997	Multicentric ossification of proximal humeral epiphyses	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003897	HP:0003902	Epiphyseal stippling of the humerus	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233

Genes (2) :DYM FLNB

Diseases (2) :OMIM:223800 ORPHA:56305

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