autosomal recessive cutis laxa type IID
autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13
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autosomal recessive cutis laxa type IID
Summary
autosomal recessive cutis laxa type IID is a rare disease[1].
Key Facts
- autosomal recessive cutis laxa type IID's instance of is recorded as rare disease[2].
- autosomal recessive cutis laxa type IID's instance of is recorded as class of disease[3].
- autosomal recessive cutis laxa type IID's subclass of is recorded as autosomal recessive cutis laxa type 2, classic type[4].
- autosomal recessive cutis laxa type IID's OMIM ID is recorded as 617403[5].
- autosomal recessive cutis laxa type IID's Disease Ontology ID is recorded as DOID:0070129[6].
- autosomal recessive cutis laxa type IID's Orphanet ID is recorded as 357074[7].
- autosomal recessive cutis laxa type IID's genetic association is recorded as ATP6V1A[8].
- autosomal recessive cutis laxa type IID's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070129[9].
- autosomal recessive cutis laxa type IID's exact match is recorded as http://identifiers.org/doid/DOID:0070129[10].
- autosomal recessive cutis laxa type IID's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_357074[11].
- autosomal recessive cutis laxa type IID's UMLS CUI is recorded as C4479409[12].
- autosomal recessive cutis laxa type IID's UMLS CUI is recorded as CL761504[13].
- autosomal recessive cutis laxa type IID's ICD-10-CM is recorded as Q82.8[14].
- autosomal recessive cutis laxa type IID's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- autosomal recessive cutis laxa type IID's Mondo ID is recorded as MONDO_0027451[16].
- autosomal recessive cutis laxa type IID's UniProt disease ID is recorded as DI-04975[17].