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:
Localized skin lesion (HP:0011355)

Parent Node:
Skin dimple (HP:0010781)

..Starting node
..Shoulder dimple (HP:0010782)

Term ID:

10782

Name:

Shoulder dimple

Synonym:

Acromial dimple; Bi-acromial dimples; Shoulder dimples

Definition:

A subtype of skin dimples occurring in the shoulder region.

Comments:

Reference:

HP:0010782

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hand dimple (HP:0040251)

Sacral dimple (HP:0000960)

Skin dimple over apex of long bone angulation (HP:0001024)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010782	HP:0010782	Shoulder dimple	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional

Genes (1) :GRB10

Diseases (1) :ORPHA:96182

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