Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy

Preferred Label : Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy;

NCIt synonyms : NEDMLHB;

NCIt definition : An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.;

NCI Metathesaurus CUI : CL1912605;

Details

Origin ID

C192636;

UMLS CUI

C5774185;

Currated CISMeF NLP mapping
- Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TAF8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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