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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;   OMIM: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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:253260
ClinVar Annotator: match by term: Biotinidase deficiency		 OMIM
CTD
MouseDO
ClinVar		 PMID:88555 PMID:1668630 PMID:7509806 PMID:7550325 PMID:9099842 More... NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		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 chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107 		JBrowse link
G Hacl1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:20083419 PMID:28492532 NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Biotinidase deficiency ClinVar PMID:25741868 NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502 		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 chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            multiple carboxylase deficiency 13
              biotinidase deficiency 4
                biotin deficiency 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                biotinidase deficiency 4
                  biotin deficiency 1
paths to the root