| Metadata | |
|---|---|
| ID | DOID:0111876 |
| Name | linear skin defects with multiple congenital anomalies 3 |
| Definition | A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. https://pubmed.ncbi.nlm.nih.gov/25772934/ |
| Xrefs | |
| Synonyms |
linear skin defects with cardiomyopathy and other congenital anomalies [EXACT] LSDMCA3 [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 |