Linear Skin Defects With Multiple Congenital Anomalies 3
Disease ID: disease_node_19245
Connections displayed (default: 10).
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| Dbxref | MIM:300952 |
|---|---|
| Subclassof | DOID_0111875, DOID_0080015, DOID_0080009 |
| Data Source | DOID |
| Synonyms | LSDMCA3, linear skin defects with cardiomyopathy and other congenital anomalies |
| Doid Label | linear skin defects with multiple congenital anomalies 3 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19245 |
| Doid Id | DOID_0111876 |
| Disease Has Basis In | HP_0001197 |
| Label | Linear Skin Defects With Multiple Congenital Anomalies 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Mls Syndrome(ID:disease_node_19243) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease)