autosomal recessive cutis laxa type IIIB Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive cutis laxa type IIIB (DOID:0070138)
Alliance: disease page
Synonyms: ARCL3B; De Barsy syndrome B
Alt IDs: OMIM:614438, ICD10CM:Q82.8
Definition: An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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