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 thumb epiphysis (HP:0009599)

Grandparent Node:
Epiphyseal stippling of finger phalanges (HP:0010237)

Parent Node:
Abnormality of the epiphysis of the distal phalanx of the thumb (HP:0009662)

Parent Node:
Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255)

Parent Node:
Stippling of thumb epiphysis (HP:0009695)

..Starting node
..Stippling of the epiphysis of the distal phalanx of the thumb (HP:0009684)

Term ID:

9684

Name:

Stippling of the epiphysis of the distal phalanx of the thumb

Synonym:

Speckled calcifications in the end part of the outermost thumb bone

Definition:

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

Comments:

Reference:

HP:0009684

Genes and Diseases:

Child Nodes:

Sister Nodes:

Stippling of the epiphysis of the proximal phalanx of the thumb (HP:0009673)

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:0009684	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	90
HP:0009684	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	52

Genes (2) :BMPR1B GDF5

Diseases (1) :ORPHA:93384

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