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DO Term : bullous congenital ichthyosiform erythroderma [DOID:0060877] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:254169002,
  • superficial epidermolytic ichthyosis,
  • ORDO:455,
  • MESH:D053560,
  • NCI:C84777,
  • UMLS_CUI:C0432306,
  • ichthyosis bullosa of Siemens,
  • GARD:2966,
  • bullous type ichthyosis,
  • 146800,
  • OMIM:146800
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents