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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/212750
http://purl.bioontology.org/ontology/OMIM/212750
|
|---|---|
| Preferred Name | CELIAC DISEASE, SUSCEPTIBILITY TO, 1 |
| Synonyms |
CELIAC1
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
CELIAC SPRUE, SUSCEPTIBILITY TO, 1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CELIAC1
GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
CELIAC SPRUE, SUSCEPTIBILITY TO, 1
|
|---|---|
| prefLabel | CELIAC DISEASE, SUSCEPTIBILITY TO, 1
|
| Gene Symbol |
CELIAC1
HLA-DQB1
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| Scope Statement | Precipitating factors - ingestion of wheat gluten, rye, and/or barley [MISCELLANEOUS]
Presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting [MISCELLANEOUS]
Presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia [MISCELLANEOUS]
Genetic heterogeneity [MISCELLANEOUS]
Presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin D deficiency [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T033
|
| Gene Locus | 6p21.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 212750
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1859310
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |