loading...| Preferred Name |
linear skin defects with multiple congenital anomalies 3 |
| Synonyms |
LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111876 |
| database_cross_reference |
OMIM:300952 |
| 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. |
| disease has basis in | |
| has exact synonym |
LSDMCA3 linear skin defects with cardiomyopathy and other congenital anomalies |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111876 |
| label |
linear skin defects with multiple congenital anomalies 3 |
| notation |
DOID:0111876 |
| prefLabel |
linear skin defects with multiple congenital anomalies 3 |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0080009 |