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
..Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)

Term ID:

32449

Name:

Abnormal dermoepidermal hemidesmosome morphology

Synonym:

Definition:

An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.

Comments:

Reference:

HP:0032449

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:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa		129
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	747
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	DST CL E G H	667	1090	OMIM:615425	Epidermolysis bullosa simplex, autosomal recessive 2		108
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040282 - Frequent	222
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		116
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		167
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa		135
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0032449	HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0032449	HP:0034256	Absent dermoepidermal hemidesmosomes	1	CL E G H
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	COL17A1 CL E G H	1308	2194	ORPHA:79406	Late-onset junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	LAMA3 CL E G H	3909	6483	OMIM:619784	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B		116
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	LAMC2 CL E G H	3918	6493	OMIM:619785	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A		135
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	PLEC CL E G H	5339	9069	OMIM:131950	Epidermolysis bullosa simplex, Ogna type		759
HP:0032449	HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759

Genes (10) :COL17A1 DSP DST ITGA6 ITGB4 JUP LAMA3 LAMB3 LAMC2 PLEC

Diseases (10) :ORPHA:79406 ORPHA:158687 OMIM:615425 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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