Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Hypoplastic dermoepidermal hemidesmosomes (HP:0020117)

Term ID:

20117

Name:

Hypoplastic dermoepidermal hemidesmosomes

Synonym:

Definition:

Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.

Comments:

Reference:

HP:0020117

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:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0020117	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759

Genes (7) :COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2 PLEC

Diseases (8) :ORPHA:79406 OMIM:619817 OMIM:619816 OMIM:226730 OMIM:619784 ORPHA:79404 OMIM:619785 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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