Exstrophy

Symptom Information:

Symptom ID: HPO:0100548
Synonyms:
Bladder exstrophy [Orphanet:37520]
Cloacal exstrophy [Orphanet:37520]
Exstrophy (morphologic abnormality) [Orphanet:37520]
Exstrophy of bladder sequence (disorder) [Orphanet:37520]
Exstrophy of cloaca sequence (disorder) [Orphanet:37520]
Bladder Exstrophy [Orphanet:37520]
Exstrophy [Orphanet:37520]
Exstrophy of cloaca sequence [Orphanet:37520]
Bladder/cloacal exstrophy [Orphanet:37520]
Cloacal exstrophy [MedDRA:10067424]
Bladder exstrophy (in 1 of 6 patients) [OMIM:Bladder exstrophy (in 1 of 6 patients)]
Quality:
Cross references:
HPO:0002836 "Bladder exstrophy" [Orphanet:37520]
HPO:0010475 "Cloacal exstrophy" [Orphanet:37520]
Orphanet:37520 "Bladder/cloacal exstrophy" [Orphanet:37520]
OMIM: "Bladder exstrophy (in 1 of 6 patients)" [OMIM:Bladder exstrophy (in 1 of 6 patients)]
UMLS:C0005689 "Bladder Exstrophy" [Orphanet:37520]
UMLS:C0015338 "Exstrophy" [Orphanet:37520]
UMLS:C0345217 "Exstrophy of cloaca sequence" [Orphanet:37520]
Is a (Direct Parents):
Orphanet Bladder exstrophy
MedDRA Reproductive tract disorders congenital NEC
Orphanet Bladder and ureter anomalies
HPO         Abnormality of the abdominal wall
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal wall(HPO:0004298)
             Exstrophy(HPO:0100548)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Reproductive tract and breast disorders congenital(MedDRA:10038608)
       Reproductive tract disorders congenital NEC(MedDRA:10038611)
          Exstrophy(HPO:0100548)
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

Beta-ureidopropionase deficiency (Orphanet:65287)
Bladder exstrophy (Orphanet:93930)
Cloacal exstrophy (Orphanet:93929)
PELVIS syndrome (Orphanet:83628)