Alacrima, Achalasia, and Impaired Intellectual Development Syndrome

Preferred Label : Alacrima, Achalasia, and Impaired Intellectual Development Syndrome;

NCIt synonyms : AAMR;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GMPPA gene, encoding mannose-1-phosphate guanyltransferase alpha. It is characterized by alacrima, achalasia, and impaired intellectual development.;

Details

Origin ID

C202544;

UMLS CUI

C4706563;

Currated CISMeF NLP mapping
- Alacrima, achalasia, and impaired intellectual development syndrome [OMIM Phenotype]
- Intellectual disability, alacrima, achalasia syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-alacrima-achalasia syndrome [ORDO Disease]
- alacrima, achalasia, and impaired intellectual development syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alacrima, achalasia, and impaired intellectual development syndrome [OMIM Phenotype]
- Intellectual disability, alacrima, achalasia syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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