loading...| Preferred Name |
neonatal diabetes mellitus with congenital hypothyroidism |
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| Synonyms |
NDH syndrome neonatal diabetes mellitus with congenital hypothyroidism 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 GARD:16699 MESH:C565705 OMIM:610199 |
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| 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 |
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| exactMatch |
http://identifiers.org/mesh/C565705 http://purl.obolibrary.org/obo/DOID_0060638 |
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| has characteristic | ||
| has material basis in germline mutation in | ||
| has_exact_synonym |
NDH syndrome neonatal diabetes mellitus with congenital hypothyroidism |
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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 |
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| IAO_0000233 | ||
| id |
MONDO:0012436 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
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| label |
neonatal diabetes mellitus with congenital hypothyroidism |
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| notation |
MONDO:0012436 |
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| prefLabel |
neonatal diabetes mellitus with congenital hypothyroidism |
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| treeView | ||
| excluded subClassOf | ||
| subClassOf |