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 skin morphology (HP:0011121)

Parent Node:
Abnormal blistering of the skin (HP:0008066)

..Starting node
..Genital blistering (HP:0031464)

Term ID:

31464

Name:

Genital blistering

Synonym:

Definition:

The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

Comments:

Reference:

HP:0031464

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acral blistering (HP:0031045)

Lamina lucida cleavage (HP:0003341)

Oral mucosal blisters (HP:0200097)

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:0031464	HP:0031464	Genital blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040284 - Very rare	263
HP:0031464	HP:0031464	Genital blistering	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040282 - Frequent	263
HP:0031464	HP:0031464	Genital blistering	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0031464	HP:0031464	Genital blistering	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040284 - Very rare	6

Genes (3) :COL7A1 KRT14 MMP1

Diseases (3) :ORPHA:79408 ORPHA:79409 ORPHA:89838

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