Disease #01365 (HSCR1 (Hirschsprung disease, type 1 (HSCR1)), OMIM:142623)

Official abbreviation HSCR1
Name Hirschsprung disease, type 1 (HSCR1)
OMIM ID 142623
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 6
Phenotype entries for this disease 1
Associated with 1 gene RET
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00222830 - - - M - - - - 0 - - HSCR1 - RET RET 1 1 Man Ting So
00222831 - - - M - - - - 0 - - HSCR1 - RET RET 1 1 Man Ting So
00222832 - - - - - - - - 0 - - HSCR1 - RET RET 1 1 Man Ting So
00222854 - - - M - - - - 0 - - HSCR1 - RET RET 1 1 Man Ting So
00222855 - - - - - - - - 0 - - HSCR1 - RET RET 1 1 Man Ting So
00307087 - - - M yes Spain - - 0 - - HSCR1 HP:0002251 ASCL1, BDNF, CYP2B6, ECE1, EDN3, EDNRB, GDNF, GEMIN2, MITF, RET RET 1 2 A. Arteche-López
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