loading...| Preferred Name |
No preferred name provided for selected language
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| Synonyms |
rare inherited metabolic disorder rare inborn errors of metabolism rare metabolic disease inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder inborn disorders of metabolism congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder inherited disorder of metabolism inborn metabolic disorder inherited disorders of metabolism |
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| Definitions |
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019052 |
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| comment |
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 |
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| closeMatch | ||
| database_cross_reference |
MedDRA:10062018 GARD:22508 Orphanet:68367 MedDRA:10058097 MESH:D008661 NCIT:C34816 DOID:655 UMLS:C0025521 SCTID:86095007 |
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| definition |
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_655 http://purl.obolibrary.org/obo/Orphanet_68367 http://linkedlifedata.com/resource/umls/id/C0025521 http://identifiers.org/snomedct/86095007 |
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| has_exact_synonym |
inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder inborn disorders of metabolism congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder inherited disorder of metabolism inborn metabolic disorder inherited disorders of metabolism |
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| has_narrow_synonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
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| has_related_synonym |
rare metabolic disease |
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| IAO_0000233 | ||
| id |
MONDO:0019052 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
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| label |
inborn errors of metabolism |
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| notation |
MONDO:0019052 |
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| subClassOf |