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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:biotinidase deficiency
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Accession:EFO:MONDO:0009665 term browser browse the term
Definition:Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Synonyms:exact_synonym: BTD deficiency;   deficiency of biotinidase
 related_synonym: biotin deficiency;   late-onset biotin-responsive multiple carboxylase deficiency;   multiple carboxylase deficiency, juvenile-onset;   multiple carboxylase deficiency, late-onset
 alt_id: MONDO:0009665
 xref: DOID:856;   GARD:894;   ICD10CM:D81.810;   ICD9:277.6;   MEDGEN:66323;   MESH:D028921;   MIM:253260;   MedDRA:10071434;   NANDO:1200822;   NCI:C84598;   NORD:857;   ORDO:79241;   SCTID:8808004;   UMLS:C0220754

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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inborn errors of metabolism 0
              inborn carbohydrate metabolic disorder 0
                multiple carboxylase deficiency 0
                  biotinidase deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            nutritional disorder 0
              nutritional deficiency disease 0
                vitamin deficiency disorder 0
                  nutritional biotin deficiency 0
                    inborn error of biotin metabolism 0
                      multiple carboxylase deficiency 0
                        biotinidase deficiency 0
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