Linear Skin Defects With Multiple Congenital Anomalies 2
Disease ID: disease_node_19244
Connections displayed (default: 10).
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| Dbxref | MIM:300887 |
|---|---|
| Subclassof | DOID_0111875, DOID_0080015, DOID_0080009 |
| Data Source | DOID |
| Synonyms | APLCC, LSDMCA2, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies |
| Doid Label | linear skin defects with multiple congenital anomalies 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19244 |
| Doid Id | DOID_0111877 |
| Disease Has Basis In | HP_0001197 |
| Label | Linear Skin Defects With Multiple Congenital Anomalies 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mls Syndrome(ID:disease_node_19243) (Disease)