Visceral neuropathy, familial, 1, autosomal recessive

Preferred Label : Visceral neuropathy, familial, 1, autosomal recessive;

Symbol : VSCN1;

CISMeF acronym : NID A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intestinal pseudoobstruction due to neuronal disease; Argyrophil myenteric plexus, deficiency of; Pseudoobstruction, chronic idiopathic intestinal, neuronal type;

Included titles and symbols : Neuronal intestinal dysplasia, type a; Nid a;

Inheritance : Autosomal recessive; some cases dominant;

Prefixed ID : #243180;

Details

Origin ID

243180;

UMLS CUI

C1855733;

Automatic exact mappings (from CISMeF team)
- Neuronal intestinal pseudoobstruction [MeSH concept]
- neuronal intestinal pseudoobstruction [MeSH Supplementary Concept]
DO Cross reference
- neuronal intestinal dysplasia type A [DO Concept]
Genes related to phenotype
- Erb-b2 receptor tyrosine kinase 3 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Aganglionic megacolon [HPO term]
- Aplasia of the olfactory bulb [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Colonic diverticula [HPO term]
- Diaphoresis [HPO term]
- Dysarthria [HPO term]
- Episodic abdominal pain [HPO term]
- Extensive colonic diverticulosis [HPO term]
- Functional intestinal obstruction [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Impaired proprioception [HPO term]
- Impaired vibratory and position senses [HPO term]
- Impaired vibratory sensation [HPO term]
- Intestinal malrotation [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Peripheral neuropathy [HPO term]
- Ptosis [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Chronic intestinal pseudoobstruction [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuronal intestinal pseudoobstruction [ORDO Disease]
- Neuronal intestinal pseudoobstruction [MeSH concept]
- neuronal intestinal pseudoobstruction [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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