Aganglionic megacolon
Symptom Information:
Symptom ID: | HPO:0002251 | |||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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 enteric ganglion morphology(HPO:0004362) Aganglionic megacolon(HPO:0002251) Abnormality of the nervous system(HPO:0000707) Abnormality of nervous system morphology(HPO:0012639) Abnormality of the autonomic nervous system(HPO:0002270) Abnormal autonomic nervous system morphology(HPO:0012331) Abnormality of enteric ganglion morphology(HPO:0004362) Aganglionic megacolon(HPO:0002251) MedDRA: Gastrointestinal disorders(MedDRA:10017947) Gastrointestinal motility and defaecation conditions(MedDRA:10017977) Non-mechanical ileus(MedDRA:10052736) Aganglionic megacolon(HPO:0002251) |
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Database Frequency: | 78 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
22q11.2 deletion syndrome | (Orphanet:567) |
ABCD SYNDROME | (OMIM:600501) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
BRESEK syndrome | (Orphanet:85284) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Congenital alveolar capillary dysplasia | (Orphanet:210122) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Diabetic embryopathy | (Orphanet:1926) |
Down syndrome | (Orphanet:870) |
Familial visceral myopathy | (Orphanet:2604) |
Fanconi anemia | (Orphanet:84) |
Fryns syndrome | (Orphanet:2059) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
HIRSCHSPRUNG DISEASE WITH ULNAR POLYDACTYLY, POLYSYNDACTYLY OF BIGTOES, AND VENTRICULAR SEPTAL DEFECT | (OMIM:235750) |
HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION | (OMIM:613870) |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 | (OMIM:600155) |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5 | (OMIM:600156) |
Haddad syndrome | (Orphanet:99803) |
Harrod syndrome | (Orphanet:2115) |
Hirschsprung disease | (Orphanet:388) |
Hirschsprung disease - deafness - polydactyly | (Orphanet:2155) |
Hirschsprung disease - ganglioneuroblastoma | (Orphanet:2151) |
Hirschsprung disease - nail hypoplasia - dysmorphism | (Orphanet:2153) |
Hirschsprung disease - type D brachydactyly | (Orphanet:2150) |
Hyperphosphatasia-intellectual deficiency syndrome | (Orphanet:247262) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Joubert syndrome with renal defect | (Orphanet:220497) |
KID syndrome | (Orphanet:477) |
L1 syndrome | (Orphanet:275543) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
McKusick-Kaufman syndrome | (Orphanet:2473) |
Melhem-Fahl syndrome | (Orphanet:2482) |
Metachromatic leukodystrophy | (Orphanet:512) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mowat-Wilson syndrome due to a point mutation | (Orphanet:261552) |
Mowat-Wilson syndrome due to monosomy 2q22 | (Orphanet:261537) |
Multiple endocrine neoplasia type 2 | (Orphanet:653) |
Multiple endocrine neoplasia type 2A | (Orphanet:247698) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | (OMIM:613013) |
Nager syndrome | (Orphanet:245) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Okihiro syndrome | (Orphanet:93293) |
Ondine syndrome | (Orphanet:661) |
Orofaciodigital syndrome type 5 | (Orphanet:2919) |
Pallister-Hall syndrome | (Orphanet:672) |
Piebald trait - neurologic defects | (Orphanet:2885) |
Piebaldism | (Orphanet:2884) |
Rhombencephalosynapsis | (Orphanet:59315) |
Ring chromosome 10 | (Orphanet:1438) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Short-limb skeletal dysplasia with severe combined immunodeficiency | (Orphanet:935) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Toriello-Carey syndrome | (Orphanet:3338) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
WAARDENBURG SYNDROME, TYPE 4A | (OMIM:277580) |
WAARDENBURG SYNDROME, TYPE 4B | (OMIM:613265) |
WAARDENBURG SYNDROME, TYPE 4C | (OMIM:613266) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Waardenburg syndrome type 2 | (Orphanet:895) |
Waardenburg-Shah syndrome | (Orphanet:897) |
X-linked complicated corpus callosum dysgenesis | (Orphanet:1497) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |