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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Biotinidase deficiency | |
| Synonyms |
Late-onset multiple carboxylase deficiency Juvenile-onset multiple carboxylase deficiency |
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| Definitions |
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. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_79241 |
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| alternative_term |
Late-onset multiple carboxylase deficiency Juvenile-onset multiple carboxylase deficiency
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|
| definition |
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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79241 |
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| has_age_of_onset |
Adolescent Adult Childhood Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
ICD-10:E53.8 MeSH:D028921 ICD-11:5C50.E0 MedDRA:10071434 OMIM:253260 UMLS:C0220754
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| label |
Biotinidase deficiency
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|
| notation |
ORPHA:79241
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| part_of |
http://www.orpha.net/ORDO/Orphanet_309833 |
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| prefixIRI |
ORDO:Orphanet_79241
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|
| prefLabel |
Biotinidase deficiency
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| present_in |
Austria AND has_birth_prevalence_average_value : 1.4 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 3.2 AND has_birth_prevalence_range : 1-9 / 100 000 Hungary AND has_birth_prevalence_average_value : 5.0 AND has_birth_prevalence_range : 1-9 / 100 000 Brazil AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 1.6 AND has_point_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.0069 AND has_point_prevalence_range : <1 / 1 000 000 Turkey AND has_birth_prevalence_average_value : 3.0 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_point_prevalence_range : 1-9 / 100 000 Sweden AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_birth_prevalence_average_value : 1.6 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : 1-9 / 100 000 Czech Republic AND has_birth_prevalence_average_value : 11.58 AND has_birth_prevalence_range : 1-5 / 10 000 United States AND has_birth_prevalence_average_value : 1.5 AND has_birth_prevalence_range : 1-9 / 100 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_309833 |
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| subClassOf |
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