BIOTINIDASE DEFICIENCY
MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
BTD DEFICIENCY
http://purl.bioontology.org/ontology/OMIM/253260
C1854698
C0220754
3p25
BTD
http://purl.bioontology.org/ontology/OMIM/MTHU036686
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU011109
http://purl.bioontology.org/ontology/OMIM/MTHU036374
http://purl.bioontology.org/ontology/OMIM/MTHU011113
http://purl.bioontology.org/ontology/OMIM/MTHU032019
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU000316
http://purl.bioontology.org/ontology/OMIM/MTHU011118
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU011117
http://purl.bioontology.org/ontology/OMIM/MTHU011114
http://purl.bioontology.org/ontology/OMIM/MTHU003623
http://purl.bioontology.org/ontology/OMIM/MTHU037762
http://purl.bioontology.org/ontology/OMIM/MTHU000195
http://purl.bioontology.org/ontology/OMIM/MTHU000225
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU042071
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU011119
http://purl.bioontology.org/ontology/OMIM/MTHU011123
http://purl.bioontology.org/ontology/OMIM/MTHU037872
http://purl.bioontology.org/ontology/OMIM/MTHU036852
http://purl.bioontology.org/ontology/OMIM/MTHU011115
http://purl.bioontology.org/ontology/OMIM/MTHU000242
Phenotype description, molecular basis known.
253260
3
pound
Caused by mutation in the biotinidase gene (BTD, 609019.0001) [MOLECULAR BASIS]
Age of onset usually 1 week to 2 years [MISCELLANEOUS]
T047