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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Biotinidase Deficiency | |
| Synonyms |
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| Definitions |
A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036671 |
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| Database_Cross_Reference |
LNC:MTHU021599 MTH:NOCODE MSH:D028921 MDR:10071434 NDFRT:N0000010998 NCI_NICHD:C84598 OMIM:609019 DO:DOID:856 LNC:LP56771-6 SNOMEDCT_US:8808004 CHV:0000021183 OMIM:253260 OMIM:MTHU011117 MEDCIN:213071 RCD:X40TG ICD10CM:D81.810 NCI:C84598 SNOMEDCT_US:124513002 SNMI:D6-B2230
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| Definition |
A multiple carboxylase deficiency that involves a deficiency in biotinidase.
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| label |
Biotinidase Deficiency
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| MCID |
MC00070592
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| PMOID |
PMO:00036671
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| prefixIRI |
pmo:PMO_00036671
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| prefLabel |
Biotinidase Deficiency
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| Synonym |
Biotinidase Deficiency [Disease/Finding] Multiple Carboxylase Deficiency, Late-Onset deficiency of biotinidase Late Onset Multiple Carboxylase Deficiency Deficiencies, Biotinidase Multiple Carboxylase Deficiency, Late Onset Late Onset Biotin Responsive Multiple Carboxylase Deficiency Deficiency of biotinidase (disorder) Biotinidase deficiency (disorder) BTD DEFICIENCY Juvenile multiple carboxylase deficiency BIOTINIDASE DEFICIENCY Juvenile-onset multiple carboxylase deficiency Deficiency, Biotinidase BTD Deficiencies Late-Onset Multiple Carboxylase Deficiency BIOTINIDASE DEFIC biotinidase deficiency (diagnosis) Mult carboxylas def-late onset MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET Deficiency of biotinidase Carboxylase Deficiency, Multiple, Late-Onset DEFIC MULTIPLE CARBOXYLASE LATE ONSET MULTIPLE CARBOXYLASE DEFIC LATE ONSET Deficiencies, BTD Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency CARBOXYLASE DEFIC MULTIPLE LATE ONSET BTD Deficiency Biotinidase Deficiencies Late-onset multiple carboxylase deficiency DEFIC BIOTINIDASE biotinidase deficiency Deficiency, BTD Multiple carboxylase deficiency - late onset Deficiency, Multiple Carboxylase, Late-Onset Biotinidase deficiency BTD deficiency
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| Tree Number |
T9.8.4.14.15.3.1 T9.11.1.12.15.3.1 T9.8.4.14.6.4.1 T9.11.1.12.6.4.1
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