loading...| Preferred Name | recessive dystrophic epidermolysis bullosa | |
| Synonyms |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
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| Definitions |
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060642 |
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| alternative label |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
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| database_cross_reference |
ICD10CM:Q81.2 MIM:226600 ORDO:79408 |
|
| definition |
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. |
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| has exact synonym |
RDEB, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type autosomal recessive dystrophic epidermolysis bullosa generalisata gravis |
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| has material basis in | ||
| has_narrow_synonym |
severe generalized RDEB severe generalized recessive dystrophic epidermolysis bullosa |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060642 |
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| in_subset | ||
| label |
recessive dystrophic epidermolysis bullosa |
|
| notation |
DOID:0060642 |
|
| note |
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. |
|
| preferred label |
recessive dystrophic epidermolysis bullosa |
|
| prefLabel |
recessive dystrophic epidermolysis bullosa |
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| subClassOf |