Search Ontology:
Human Disease

linear skin defects with multiple congenital anomalies 2

Term ID
DOID:0111877
Synonyms
  • aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
  • APLCC
  • LSDMCA2
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. (2)
References
Ontology
Human Disease   ( DOID:0111877 )
Relationships
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Genes Involved
Zebrafish Models