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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
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Accession:DOID:9001105 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year of life. Affected individuals show growth retardation with decreasing head circumference and poor feeding. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum.
Synonyms:exact_synonym: NERIB;   SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY SMVT DEFICIENCY;   infantile-onset biotin-responsive neurodegeneration
 primary_id: OMIM:618973


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NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC5A6 solute carrier family 5 member 6 IAGP ClinVar Annotator: match by term: Neurodegeneration, infantile-onset, biotin-responsive OMIM
ClinVar		 PMID:25741868 PMID:27904971 PMID:28492532 PMID:31392107 PMID:31754459 More... NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        neurodegenerative disease 6582
          NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        central nervous system disease 23611
          neurodegenerative disease 6582
            NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
paths to the root