NEURONAL INTESTINAL DYSPLASIA, TYPE B

General Information (adopted from Orphanet):

Synonyms, Signs: NID B
Number of Symptoms 6
OrphanetNr:
OMIM Id: 601223
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Giant submucosal ganglia 1 / 7739
4
(OMIM) Heterotopic ganglion cells in the lamina propria mucosae and in the muscularis mucosae 1 / 7739
5
(OMIM) Increased acetylcholinesterase activity in nerve fibers around submucosal blood vessels and lamina propria mucosae 1 / 7739
6
(OMIM) Hyperplasia of submucosal plexuses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: