autosomal recessive cutis laxa type IIC
autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11
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Summary
autosomal recessive cutis laxa type IIC is a rare disease[1].
Key Facts
- autosomal recessive cutis laxa type IIC's instance of is recorded as rare disease[2].
- autosomal recessive cutis laxa type IIC's instance of is recorded as class of disease[3].
- autosomal recessive cutis laxa type IIC's subclass of is recorded as autosomal recessive cutis laxa type 2, classic type[4].
- autosomal recessive cutis laxa type IIC's OMIM ID is recorded as 617402[5].
- autosomal recessive cutis laxa type IIC's Disease Ontology ID is recorded as DOID:0070140[6].
- autosomal recessive cutis laxa type IIC's Orphanet ID is recorded as 357074[7].
- autosomal recessive cutis laxa type IIC's genetic association is recorded as ATP6V1E1[8].
- autosomal recessive cutis laxa type IIC's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070140[9].
- autosomal recessive cutis laxa type IIC's exact match is recorded as http://identifiers.org/doid/DOID:0070140[10].
- autosomal recessive cutis laxa type IIC's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_357074[11].
- autosomal recessive cutis laxa type IIC's UMLS CUI is recorded as C4479387[12].
- autosomal recessive cutis laxa type IIC's UMLS CUI is recorded as CL761484[13].
- autosomal recessive cutis laxa type IIC's UMLS CUI is recorded as C5679922[14].
- autosomal recessive cutis laxa type IIC's ICD-10-CM is recorded as printer.8[15].
- autosomal recessive cutis laxa type IIC's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- autosomal recessive cutis laxa type IIC's Mondo ID is recorded as MONDO_0027462[17].
- autosomal recessive cutis laxa type IIC's UniProt disease ID is recorded as DI-04974[18].