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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Fragile skin (HP:0001030)

..Starting node
..Skin fragility with non-scarring blistering (HP:0007585)

Term ID:

7585

Name:

Skin fragility with non-scarring blistering

Synonym:

Definition:

Comments:

Reference:

HP:0007585

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:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT14 CL E G H	3861	6416	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	110
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT14 CL E G H	3861	6416	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	110
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT14 CL E G H	3861	6416	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	110
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT5 CL E G H	3852	6442	ORPHA:79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	HP:0040281 - Very frequent	173
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT5 CL E G H	3852	6442	ORPHA:158681	Epidermolysis bullosa simplex with circinate migratory erythema	HP:0040282 - Frequent	173
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT5 CL E G H	3852	6442	ORPHA:79397	Epidermolysis bullosa simplex with mottled pigmentation	HP:0040281 - Very frequent	173
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	KRT5 CL E G H	3852	6442	ORPHA:79400	Localized epidermolysis bullosa simplex	HP:0040281 - Very frequent	173
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0007585	HP:0007585	Skin fragility with non-scarring blistering	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type	.	759

Genes (4) :ITGB4 KRT14 KRT5 PLEC

Diseases (6) :ORPHA:158684 ORPHA:79399 ORPHA:79397 ORPHA:79400 ORPHA:158681 OMIM:131950

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

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