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linear skin defects with multiple congenital anomalies 3
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene.
Uniprot Description A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles.
Mondo Term and Equivalent IDs
MONDO:0010494: linear skin defects with multiple congenital anomalies 3
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:300952
UMLS:C4225421
MONDO:0010494
High level summary of knowledge for a disease, including descriptions and datasource references.