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
..Neonatal epiphyseal stippling (HP:0005756)

Term ID:

5756

Name:

Neonatal epiphyseal stippling

Synonym:

Epiphyseal stippling in neonates; Speckled calcifications in bone end parts in neonates

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.

Comments:

Reference:

HP:0005756

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcaneal epiphyseal stippling (HP:0004695)

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)

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:0005756	HP:0005756	Neonatal epiphyseal stippling	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0005756	HP:0005756	Neonatal epiphyseal stippling	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134

Genes (2) :EBP PRKAR1A

Diseases (2) :ORPHA:35173 OMIM:101800

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