Preferred Name | Ichthyosis, congenital, autosomal recessive 1 | |
Synonyms |
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Definitions |
(ARCI1): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. |
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ID |
http://purl.obolibrary.org/obo/OMIM_242300 |
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definition |
(ARCI1): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:242300 |
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label |
Ichthyosis, congenital, autosomal recessive 1 |
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notation |
OMIM:242300 |
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prefLabel |
Ichthyosis, congenital, autosomal recessive 1 |
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treeView | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/OMIM/242300 | OMIM | LOOM | |
http://identifiers.org/omim/242300 | REXO | LOOM | |
http://identifiers.org/omim/242300 | GEXO | LOOM | |
http://identifiers.org/omim/242300 | RETO | LOOM |