Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

Preferred Label : Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum;

NCIt synonyms : Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome; PEBAT;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TBCD gene, encoding tubulin-specific chaperone D. It is characterized by encephalopathy, cerebellar and cerebral atrophy, and a thin corpus callosum.;

NCI Metathesaurus CUI : CL1776140;

Details

Origin ID

C202602;

UMLS CUI

C5567454;

Currated CISMeF NLP mapping
- Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) [SNOMED CT concept]
- Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum [OMIM Phenotype]
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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