linear skin defects with multiple congenital anomalies 2 Disease Ontology Browser

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Disease Ontology Browser

linear skin defects with multiple congenital anomalies 2 (DOID:0111877)
Alliance: disease page
Synonyms: aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies; APLCC; LSDMCA2
Alt IDs: OMIM:300887
Definition: A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.

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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