Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the skin (HP:0000951)help
Parent Node:
expand
Abnormality of skin morphology (HP:0011121)help
..Starting node
..expand
Abnormal dermoepidermal junction morphology (HP:0031538)help
Term ID: 31538
Name: Abnormal dermoepidermal junction morphology
Synonym:
Definition: Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.
Comments:
Reference: HP:0031538
Genes and Diseases:
 
       Child Nodes:
........expandLinear IgA deposits along the epidermal basement membrane zone (HP:0031539) help
........expandLinear IgG deposits along the epidermal basement membrane zone (HP:0031540) help
........expandLinear C3 deposits along the epidermal basement membrane zone (HP:0031541) help

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) help
..expandThickened skin (HP:0001072) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2108
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0LAMC2 CL E G H39186493OMIM:619785EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A135
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type759
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0031538HP:0031538Abnormal dermoepidermal junction morphology0ZAP70 CL E G H753512858OMIM:617006AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO246
HP:0031538HP:0031541Linear C3 deposits along the epidermal basement membrane zone1 CL E G H
HP:0031538HP:0031539Linear IgA deposits along the epidermal basement membrane zone1 CL E G H
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosa129
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent747
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1DST CL E G H6671090OMIM:615425Epidermolysis bullosa simplex, autosomal recessive 2108
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1JUP CL E G H37286207ORPHA:158687Lethal acantholytic erosive disorderHP:0040282 - Frequent222
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosa116
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosa167
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1LAMC2 CL E G H39186493OMIM:619785EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A135
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosa135
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type759
HP:0031538HP:0032449Abnormal dermoepidermal hemidesmosome morphology1PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759
HP:0031538HP:0031540Linear IgG deposits along the epidermal basement membrane zone1ZAP70 CL E G H753512858OMIM:617006AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO246
HP:0031538HP:0034256Absent dermoepidermal hemidesmosomes2 CL E G H
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2COL17A1 CL E G H13082194ORPHA:79406Late-onset junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2ITGB4 CL E G H36916158OMIM:619816EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A124
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2ITGB4 CL E G H36916158OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia124
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2LAMA3 CL E G H39096483OMIM:619784EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE; JEB2B116
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2LAMC2 CL E G H39186493OMIM:619785EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3A, INTERMEDIATE; JEB3A135
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2PLEC CL E G H53399069OMIM:131950Epidermolysis bullosa simplex, Ogna type759
HP:0031538HP:0020117Hypoplastic dermoepidermal hemidesmosomes2PLEC CL E G H53399069OMIM:226730Epidermolysis bullosa, junctional, with pyloric atresia759


Genes (11) :COL17A1 DSP DST ITGA6 ITGB4 JUP LAMA3 LAMB3 LAMC2 PLEC ZAP70

Diseases (11) :ORPHA:79406 ORPHA:158687 OMIM:615425 OMIM:619817 OMIM:619816 OMIM:226730 OMIM:619784 ORPHA:79404 OMIM:619785 OMIM:131950 OMIM:617006
 

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