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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:biotinidase deficiency
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Accession:DOID:856 term browser browse the term
Definition:A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: BTD deficiencies;   BTD deficiency;   biotinidase deficiencies;   deficiency of biotinidase;   juvenile-onset multiple carboxylase deficiency;   late onset biotin responsive multiple carboxylase deficiency;   late onset multiple carboxylase deficiency
 primary_id: MESH:D028921
 alt_id: MESH:C565365;   MIM:253260
 xref: GARD:894;   ICD10CM:D81.810;   NCI:C84598
For additional species annotation, visit the Alliance of Genome Resources.


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biotinidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO ClinVar Annotator: match by term: Biotinidase deficiency OMIM
ClinVar		 PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 More... NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497 		JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299 		JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982 		JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:25741868 NCBI chr16:55,237,656...55,266,945
Ensembl chr16:74,591,635...74,620,667 		JBrowse link
biotin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTD biotinidase ISO ClinVar Annotator: match by term: Biotin deficiency ClinVar PMID:88555 PMID:9099842 PMID:9158148 PMID:10400129 PMID:11313766 More... NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15687
    Nutritional and Metabolic Diseases 7219
      disease of metabolism 7219
        inherited metabolic disorder 5594
          amino acid metabolic disorder 1563
            multiple carboxylase deficiency 13
              biotinidase deficiency 4
                biotin deficiency 1
Path 2
Term Annotations click to browse term
  disease 15687
    Developmental Disease 13597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12638
        genetic disease 12286
          monogenic disease 10349
            autosomal genetic disease 9544
              autosomal recessive disease 6676
                biotinidase deficiency 4
                  biotin deficiency 1
paths to the root