Search Ontology:
Human Disease
linear skin defects with multiple congenital anomalies 2
- Term ID
- DOID:0111877
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models