Abnormality of the large intestine

Symptom Information:

Symptom ID: HPO:0002250
Synonyms:
Colon anomaly [Orphanet:26440]
Congenital anomaly of large intestine (disorder) [Orphanet:26440]
Congenital anomaly of large intestine [Orphanet:26440]
Intestinal/colonic anomaly [Orphanet:26440]
Quality:
Cross references:
Orphanet:26440 "Intestinal/colonic anomaly" [Orphanet:26440]
UMLS:C0266188 "Congenital anomaly of large intestine" [Orphanet:26440]
Is a (Direct Parents):
HPO         Colonic stenosis
HPO         Abnormality of the intestine
HPO         Abnormal large intestine physiology
Orphanet Structural anomalies of the digestive tract
Orphanet Abnormality of the small intestine
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the abdomen(HPO:0001438)
          Abnormality of the abdominal organs(HPO:0002012)
             Abnormality of the gastrointestinal tract(HPO:0011024)
                Abnormality of the intestine(HPO:0002242)
                   Abnormality of the large intestine(HPO:0002250)
MedDRA:
Database Frequency: 32 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
APPENDICITIS, PRONENESS TO (OMIM:107700)
Acquired epidermolysis bullosa (Orphanet:46487)
Adrenomyodystrophy (Orphanet:977)
Alpha heavy-chain disease (Orphanet:100025)
Arterial tortuosity syndrome (Orphanet:3342)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
Bilateral renal agenesis (Orphanet:1848)
Campomelia, Cumming type (Orphanet:1318)
Celiac disease, epilepsy and cerebral calcification syndrome (Orphanet:1459)
Chronic intestinal pseudo-obstruction (Orphanet:2978)
Chylous ascites (Orphanet:1160)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Colonic atresia (Orphanet:1198)
Congenital disorder of glycosylation (Orphanet:137)
Currarino triad (Orphanet:1552)
Down syndrome (Orphanet:870)
Esophageal carcinoma (Orphanet:70482)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hypoplasminogenemia (Orphanet:722)
Infantile myofibromatosis (Orphanet:2591)
Intellectual deficit, Wolff type (Orphanet:3080)
Juvenile polyposis syndrome (Orphanet:2929)
Lethal recessive chondrodysplasia (Orphanet:1423)
Lichen planopilaris (Orphanet:525)
Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet:2241)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Oculogastrointestinal muscular dystrophy (Orphanet:1876)
Palmoplantar keratoderma-esophageal carcinoma syndrome (Orphanet:2198)
Tracheo-esophageal fistula - hypospadias (Orphanet:2042)
Waardenburg syndrome (Orphanet:3440)
Waardenburg-Shah syndrome (Orphanet:897)