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neonatal diabetes mellitus with congenital hypothyroidism
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
Uniprot Description A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys.
Mondo Term and Equivalent IDs
MONDO:0012436: neonatal diabetes mellitus with congenital hypothyroidism
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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.
DOID:0060638
MESH:C565705
OMIM:610199
Orphanet:79118
UMLS:C1857775
MONDO:0012436
High level summary of knowledge for a disease, including descriptions and datasource references.