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

..Starting node
..Skin detachment (HP:0032156)

Term ID:

32156

Name:

Skin detachment

Synonym:

Detached skin; Epidermal detachment; Skin sloughing

Definition:

Loss of sections of skin either spontaneously or after gentle handling.

Comments:

Reference:

HP:0032156

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032156	HP:0032156	Skin detachment	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0032156	HP:0032156	Skin detachment	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124

Genes (2) :COL17A1 ITGB4

Diseases (1) :ORPHA:251393

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