loading...| Preferred Name |
Hyperkeratosis, Epidermolytic |
| Synonyms |
Hyperkeratoses, Epidermolytic |
| 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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D017488 |
| altLabel |
Hyperkeratoses, Epidermolytic Bullous Erythroderma Ichthyosiformes Congenital Bullous Ichthyosiform Erythroderma Epidermolytic Ichthyosis Epidermolytic Hyperkeratoses Erythroderma Ichthyosiformes, Bullous Ichthyosiformes, Bullous Erythroderma Ichthyosiforme, Bullous Erythroderma Bullous Ichthyosiform Erythrodermas Erythrodermas, Bullous Ichthyosiform Epidermolytic Hyperkeratosis Bullous Ichthyosiform Erythroderma Bullous Erythroderma Ichthyosiformis Congenita of Brocq Bullous Erythroderma Ichthyosiforme Congenital Ichthyosiform Erythroderma, Bullous Bullous Ichthyosiform Erythroderma Congenital Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiforme, Bullous Erythroderma, Bullous Ichthyosiform Ichthyosiform Erythroderma, Bullous Congenital Bullous Congenital Ichthyosiform Erythroderma Ichthyosiform Erythrodermas, Bullous |
| 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 |
| cui |
C0079153 |
| DC |
1 |
| 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. |
| DX |
19930101 |
| FX |
D053550 D053556 |
| 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 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| 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 |
| Mapped from | |
| MDA |
19920520 |
| MMR |
20150618 |
| MN |
C17.800.428.333.250.375 C16.320.850.400.375 C17.800.827.400.375 C16.614.492.400.375 C17.800.804.512.400.375 C16.131.831.512.400.375 |
| notation |
D017488 |
| prefLabel |
Hyperkeratosis, Epidermolytic |
| TERMUI |
T052475 T811954 T841335 T753339 T781865 T052479 T841334 T665693 T052478 T052477 T052476 T781864 |
| TH |
NLM (1993) NLM (2010) NLM (2007) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |