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loading...| Preferred Name |
MECONIUM ILEUS |
| ID |
http://purl.bioontology.org/ontology/OMIM/614665 |
| cui |
C2939175 |
| Gene Locus |
12p12 |
| Gene Symbol |
GUCY2C GUC2C MECIL DIAR6 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU069406 http://purl.bioontology.org/ontology/OMIM/MTHU040022 http://purl.bioontology.org/ontology/OMIM/MTHU040021 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
614665 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MECONIUM ILEUS |
| Scope Statement |
Caused by mutation in the guanylate cyclase 2C gene (GUCY2C, 601330.0002) [MOLECULAR BASIS] Normal sweat electrolytes [MISCELLANEOUS] No features consistent with cystic fibrosis found in these patients [MISCELLANEOUS] |
| tui |
T047 |
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