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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618662
http://purl.bioontology.org/ontology/OMIM/618662
|
|---|---|
| Preferred Name | DIARRHEA 11, MALABSORPTIVE, CONGENITAL |
| Synonyms |
INTRACTABLE DIARRHEA OF INFANCY SYNDROME
DIAR11
IDIS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
INTRACTABLE DIARRHEA OF INFANCY SYNDROME
DIAR11
IDIS
|
|---|---|
| prefLabel | DIARRHEA 11, MALABSORPTIVE, CONGENITAL
|
| Gene Symbol |
ICR
PERCC1
DIAR11
|
| Scope Statement | Caused by deletion of the intestine-critical region (ICR) flanking the proline- and glutamate-rich protein with coiled-coil domain-1 gene (PERCC1, 618656.0001) [MOLECULAR BASIS]
Parenteral nutrition required in the first decade of life [MISCELLANEOUS]
Onset within the first 3 weeks of life [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 16p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618662
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231449
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |