Disease #03286 (DIAR5 (diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5)), OMIM:613217)

Official abbreviation DIAR5
Name diarrhea, type 5, with tufting enteropathy, congenital (DIAR-5)
OMIM ID 613217
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene EPCAM
Associated tissues -
Disease features autosomal recessive
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00081062 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - DIAR5 diarrhea with tufting enteropathy, congenital EPCAM EPCAM 1 1 Daniel Trujillano
00305944 43 - - M - China - - - - - DIAR5 - EPCAM EPCAM 2 1 Sha Hong
Legend   How to query