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 epiphyseal ossification (HP:0010656)

Grandparent Node:
Abnormal humeral ossification (HP:0012791)

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

Parent Node:
Epiphyseal stippling (HP:0010655)

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

..Starting node
..Epiphyseal stippling of the humerus (HP:0003902)

Term ID:

3902

Name:

Epiphyseal stippling of the humerus

Synonym:

Stippled ossification of the humeral epiphyses

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.

Comments:

Reference:

HP:0003902

Genes and Diseases:

Child Nodes:

Sister Nodes:

Multicentric ossification of proximal humeral epiphyses (HP:0004997)

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:0003902	HP:0003902	Epiphyseal stippling of the humerus	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233

Genes (1) :FLNB

Diseases (1) :ORPHA:56305

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