autosomal recessive congenital ichthyosis 4A
autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has material basis in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35
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autosomal recessive congenital ichthyosis 4A
Summary
autosomal recessive congenital ichthyosis 4A is a rare disease[1].
Key Facts
- autosomal recessive congenital ichthyosis 4A's instance of is recorded as rare disease[2].
- autosomal recessive congenital ichthyosis 4A's instance of is recorded as class of disease[3].
- autosomal recessive congenital ichthyosis 4A's subclass of is recorded as autosomal recessive congenital ichthyosis[4].
- autosomal recessive congenital ichthyosis 4A's MeSH descriptor ID is recorded as C537264[5].
- autosomal recessive congenital ichthyosis 4A's OMIM ID is recorded as 601277[6].
- autosomal recessive congenital ichthyosis 4A's Disease Ontology ID is recorded as DOID:0060712[7].
- autosomal recessive congenital ichthyosis 4A's health specialty is recorded as medical genetics[8].
- autosomal recessive congenital ichthyosis 4A's genetic association is recorded as ABCA12[9].
- autosomal recessive congenital ichthyosis 4A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060712[10].
- autosomal recessive congenital ichthyosis 4A's exact match is recorded as http://identifiers.org/doid/DOID:0060712[11].
- autosomal recessive congenital ichthyosis 4A's UMLS CUI is recorded as C1832550[12].
- autosomal recessive congenital ichthyosis 4A's ICD-10-CM is recorded as Q80.2[13].
- autosomal recessive congenital ichthyosis 4A's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- autosomal recessive congenital ichthyosis 4A's Mondo ID is recorded as MONDO_0011026[15].
- autosomal recessive congenital ichthyosis 4A's UniProt disease ID is recorded as DI-00588[16].