loading...| Preferred Name |
neonatal diabetes mellitus with congenital hypothyroidism |
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| Synonyms |
NDH syndrome Ndh syndrome NDH diabetes mellitus, neonatal, with congenital hypothyroidism neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
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| Definitions |
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 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0012436 |
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| database_cross_reference |
UMLS:C1857775 DOID:0060638 Orphanet:79118 MESH:C565705 OMIM:610199 |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://identifiers.org/mesh/C565705 http://www.orpha.net/ORDO/Orphanet_79118 http://purl.obolibrary.org/obo/DOID_0060638 |
|
| has exact synonym |
NDH syndrome |
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| has related synonym |
Ndh syndrome NDH diabetes mellitus, neonatal, with congenital hypothyroidism neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome |
|
| id |
MONDO:0012436 |
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| imported from | ||
| in_subset | ||
| label |
neonatal diabetes mellitus with congenital hypothyroidism |
|
| notation |
MONDO:0012436 |
|
| prefLabel |
neonatal diabetes mellitus with congenital hypothyroidism |
|
| textual definition |
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 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019052 |