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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
 pimary_id: OMIM:618973
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE OMIM
ClinVar
PMID:27904971 NCBI chr 6:26,685,823...26,697,110
Ensembl chr 6:26,686,033...26,697,116
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        neurodegenerative disease 3220
          NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          neurodegenerative disease 3220
            NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE 1
paths to the root