Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies

Preferred Label : Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies;

NCIt synonyms : Intellectual Disability-Strabismus Syndrome; NEDBGF;

NCIt definition : An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies.;

NCI Metathesaurus CUI : CL941994;

Details

Origin ID

C186789;

UMLS CUI

C4750838;

Automatic exact mappings (from CISMeF team)
- Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies [OMIM Phenotype]
Currated CISMeF NLP mapping
- Intellectual disability with strabismus syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-strabismus syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability with strabismus syndrome (disorder) [SNOMED CT concept]
- Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- ADAT3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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