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Kidney Tissue Atlas Ontology
Last uploaded:
March 16, 2024
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| Preferred Name | homocystinuria (disease) | |
| Synonyms |
cystathionine beta synthase deficiency CBS deficiency cystathionine synthase deficiency homocystinuria |
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| Definitions |
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0004737 |
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| closeMatch | ||
| database_cross_reference |
NCIT:C84765 DOID:9263 UMLS:C0019880 GARD:0010770 HP:0002156 SCTID:11282001 ICD10:E72.11
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| disease causes disruption of | ||
| disease has basis in disruption of | ||
| exactMatch |
http://identifiers.org/snomedct/11282001 http://purl.obolibrary.org/obo/NCIT_C84765 |
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| has exact synonym |
homocystinuria
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| has narrow synonym |
cystathionine beta synthase deficiency CBS deficiency cystathionine synthase deficiency
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|
| id |
MONDO:0004737
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| imported from | ||
| label |
homocystinuria (disease)
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|
| notation |
MONDO:0004737
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| prefLabel |
homocystinuria (disease)
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|
| textual definition |
An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0004737 | OBA | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0004737 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0004737 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0004737 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0004737 | DOVES | SAME_URI |