Megacystis microcolon intestinal hypoperistalsis syndrome

Disease Term Disease ID Gene Symbol Classification References Source
MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME
C1608393MESH:C536138
ACTG2 Unknown
24337657 24676022
CTD Disgenet
LMOD1 Unknown — Disgenet
MYH11 Unknown — Disgenet
MYL9 Unknown — Disgenet
MYLK Unknown — Disgenet
PDCL3 Unknown — Disgenet
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
2241MONDO:0007960MONDO:0025986
ACTG2 Unknown
24676022
GWAS catalog Orphanet
LMOD1 Unknown
28292896
Disgenet Orphanet
MYH11 Unknown
25407000
GWAS catalog Orphanet
MYLK Unknown
28602422
GenCC Orphanet
PDCL3 Unknown — GenCC
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1
249210C5542316MONDO:0100354
MYLK Causal
28602422
CTD ClinVar Disgenet HPO
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
619351C5543476MONDO:0025708
MYH11 Causal
25407000 29575632 29932067
ClinVar Disgenet GWAS catalog HPO
NDE1 Unknown — Disgenet
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3
619362C5543513MONDO:0030294
LMOD1 Causal — ClinVar Disgenet GenCC HPO
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4
619365C5543519MONDO:0030296
MYL9 Unknown
27481187 29453416 32621347 33031641 33424621 35802750
ClinVar Disgenet GWAS catalog HPO
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5
619431C5543636MONDO:0030329
ACTG2 Causal — ClinVar Disgenet HPO