Disease #03286

Official abbreviation DIAR-5
Name diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5)
OMIM ID 613217
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene EPCAM
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00081062 - Trujillano et al., submitted unaffected parents - - - - - 0 - - DIAR-5 diarrhea with tufting enteropathy, congenital EPCAM EPCAM 1 1 Daniel Trujillano
00305944 43 - - M - China - - - - - DIAR-5 - EPCAM EPCAM 2 1 Sha Hong
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