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 epiphysis morphology (HP:0005930)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Epiphyseal stippling (HP:0010655)

..Starting node
..Calcaneal epiphyseal stippling (HP:0004695)

Term ID:

4695

Name:

Calcaneal epiphyseal stippling

Synonym:

Definition:

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

Comments:

Reference:

HP:0004695

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal ulnar epiphyseal stippling (HP:0006370)

Epiphyseal stippling of finger phalanges (HP:0010237)

Epiphyseal stippling of the humerus (HP:0003902)

Epiphyseal stippling of the metacarpals (HP:0009195)

Epiphyseal stippling of toe phalanges (HP:0010171)

Neonatal epiphyseal stippling (HP:0005756)

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:0004695	HP:0004695	Calcaneal epiphyseal stippling	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0004695	HP:0004695	Calcaneal epiphyseal stippling	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6

Genes (2) :ARSL SNRPB

Diseases (2) :ORPHA:79345 OMIM:117650

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