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Medical Subject Headings
| Preferred Name | Hyperkeratosis, Epidermolytic | |
| Synonyms |
Ichthyosiform Erythroderma, Bullous Ichthyosiform Erythroderma, Bullous Congenital Bullous Erythroderma Ichthyosiformes Congenital Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiformes, Bullous Erythroderma, Bullous Ichthyosiform Bullous Congenital Ichthyosiform Erythroderma Congenital Bullous Ichthyosiform Erythroderma Ichthyosiformes, Bullous Erythroderma Bullous Ichthyosiform Erythroderma Congenital Epidermolytic Ichthyosis Ichthyosiforme, Bullous Erythroderma Bullous Erythroderma Ichthyosiforme Hyperkeratoses, Epidermolytic Erythrodermas, Bullous Ichthyosiform Bullous Ichthyosiform Erythroderma Ichthyosiform Erythrodermas, Bullous Bullous Erythroderma Ichthyosiformis Congenita of Brocq Bullous Ichthyosiform Erythrodermas Erythroderma Ichthyosiforme, Bullous Epidermolytic Hyperkeratoses Epidermolytic Hyperkeratosis |
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| Definitions |
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder. |
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| ID |
http://purl.bioontology.org/ontology/MESH/D017488 |
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| altLabel |
Ichthyosiform Erythroderma, Bullous Ichthyosiform Erythroderma, Bullous Congenital Bullous Erythroderma Ichthyosiformes Congenital Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiformes, Bullous Erythroderma, Bullous Ichthyosiform Bullous Congenital Ichthyosiform Erythroderma Congenital Bullous Ichthyosiform Erythroderma Ichthyosiformes, Bullous Erythroderma Bullous Ichthyosiform Erythroderma Congenital Epidermolytic Ichthyosis Ichthyosiforme, Bullous Erythroderma Bullous Erythroderma Ichthyosiforme Hyperkeratoses, Epidermolytic Erythrodermas, Bullous Ichthyosiform Bullous Ichthyosiform Erythroderma Ichthyosiform Erythrodermas, Bullous Bullous Erythroderma Ichthyosiformis Congenita of Brocq Bullous Ichthyosiform Erythrodermas Erythroderma Ichthyosiforme, Bullous Epidermolytic Hyperkeratoses Epidermolytic Hyperkeratosis
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| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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| cui |
C0079153
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|
| DC |
1
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|
| definition |
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
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| DX |
19930101
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| FX |
D053550 D053556
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| HN |
1993(1979); use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; for ERYTHRODERMA ICHTHYOSIFORME, BULLOUS use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, use SKIN DISEASES, BULLOUS 1979-1990
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| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
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| Inverse of RO | ||
| Machine permutation |
1993; see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; for ERYTHRODERMA ICHTHYOSIFORME, BULLOUS see ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, see SKIN DISEASES, BULLOUS 1979-1990
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| Mapped from | ||
| MDA |
19920520
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| MMR |
20150618
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| MN |
C16.614.492.400.375 C16.131.831.512.400.375 C17.800.804.512.400.375 C17.800.428.333.250.375 C16.320.850.400.375 C17.800.827.400.375
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| notation |
D017488
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| prefLabel |
Hyperkeratosis, Epidermolytic
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|
| TERMUI |
T811954 T665693 T781864 T841335 T052475 T052478 T052476 T841334 T052479 T753339 T052477 T781865
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| TH |
OMIM (2013) NLM (1993) NLM (2012) NLM (2010) GHR (2014) NLM (2007) ORD (2010)
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| tui |
T047
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| subClassOf |
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