loading...| Preferred Name |
neonatal diabetes mellitus with congenital hypothyroidism |
|
| Synonyms |
NDH syndrome |
|
| Definitions |
A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060638 |
|
| database_cross_reference |
ORDO:79118 OMIM:610199 |
|
| definition |
A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. |
|
| has_exact_synonym |
NDH syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060638 |
|
| label |
neonatal diabetes mellitus with congenital hypothyroidism |
|
| notation |
DOID:0060638 |
|
| prefLabel |
neonatal diabetes mellitus with congenital hypothyroidism |
|
| subClassOf |