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Heimler syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.
DataSource References
UniProt Disease: OMIM:616617
Monarch: OMIM:616617
DisGeNET: UMLS:C4225267
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
UniProt Disease
Monarch
DisGeNET
High level summary of knowledge for a disease, including descriptions and datasource references.