FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term linear skin defects with multiple congenital anomalies 2 ID (Ontology) DOID:0111877 (Human Disease)
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.
Also Known As "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies" ; "APLCC" ; "LSDMCA2"
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Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease__
syndrome                       |
 |__MLS syndrome_______________|
disease                        |
 |__physical disorder__________|
                               linear skin defects with multiple congenital anomalies 2
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Is a X-linked dominant disease
physical disorder
MLS syndrome
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Synonyms
  • "aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT
    "APLCC" EXACT OMO:0003012
    "LSDMCA2" EXACT OMO:0003012
Secondary IDs
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MIM:300887