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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610370
http://purl.bioontology.org/ontology/OMIM/610370
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|---|---|
| Preferred Name | DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY |
| Synonyms |
DIAR4
ENTERIC ANENDOCRINOSIS
DIARRHEA 4, MALABSORPTIVE, CONGENITAL
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIAR4
ENTERIC ANENDOCRINOSIS
DIARRHEA 4, MALABSORPTIVE, CONGENITAL
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|---|---|
| prefLabel | DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY
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| Gene Symbol |
NEUROG3
ATOH5
NGN3
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| Scope Statement | Onset of diarrhea within the first weeks of life [MISCELLANEOUS]
Onset of diabetes ranges from neonatal period to the third decade of life [MISCELLANEOUS]
Caused by mutation in the neurogenin 3 gene (NEUROG3, 604882.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 10q21.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 610370
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1835888
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |