| Metadata | |
|---|---|
| ID | DOID:0111877 |
| Name | linear skin defects with multiple congenital anomalies 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/9747372/, https://pubmed.ncbi.nlm.nih.gov/23122588/ |
| Xrefs | |
| Synonyms |
aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies [EXACT] APLCC [EXACT] LSDMCA2 [EXACT] |
| Parent Relationships |
is_a X-linked dominant disease is_a MLS syndrome is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some X-linked dominant inheritance disease has basis in some Abnormality of prenatal development or birth |