Preferred Name |
PRUNE BELLY SYNDROME |
Synonyms |
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM |
ID |
http://purl.bioontology.org/ontology/OMIM/100100 |
altLabel |
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM EAGLE-BARRETT SYNDROME EGBRS PBS |
cui |
C0033770 |
Gene Locus |
1q43 |
Gene Symbol |
CHRM3 EGBRS PBS |
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU066981 http://purl.bioontology.org/ontology/OMIM/MTHU026698 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU007610 http://purl.bioontology.org/ontology/OMIM/MTHU036335 http://purl.bioontology.org/ontology/OMIM/MTHU026695 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU065098 http://purl.bioontology.org/ontology/OMIM/MTHU066982 http://purl.bioontology.org/ontology/OMIM/MTHU066980 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
100100 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
PRUNE BELLY SYNDROME |
Scope Statement |
Distended bladder and hydronephrosis may be detected prenatally [MISCELLANEOUS] Affected individuals are symptomatic from birth [MISCELLANEOUS] Caused by mutation in the muscarinic cholinergic receptor-3 gene (CHRM3, 118494.0001) [MOLECULAR BASIS] |
tui |
T047 |