loading...| Preferred Name | homocystinuria | |
| Synonyms |
cystathionine beta synthase deficiency CBS deficiency cystathionine synthase deficiency homocystinuria (disease) 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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| database_cross_reference |
NCIT:C84765 DOID:9263 UMLS:C0019880 GARD:10770 HP:0002156 MEDGEN:42485 NANDO:2200474 MESH:D006712 SCTID:11282001 NANDO:1201038 ICD10CM:E72.11 |
|
| 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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| has_exact_synonym |
homocystinuria (disease) homocystinuria |
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| has_narrow_synonym |
cystathionine beta synthase deficiency CBS deficiency cystathionine synthase deficiency |
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| IAO_0000589 |
homocystinuria (disease) |
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| id |
MONDO:0004737 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar |
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| label |
homocystinuria |
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| notation |
MONDO:0004737 |
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| prefLabel |
homocystinuria |
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| skos_exactMatch |
http://identifiers.org/snomedct/11282001 http://purl.obolibrary.org/obo/NCIT_C84765 http://identifiers.org/mesh/D006712 http://linkedlifedata.com/resource/umls/id/C0019880 http://purl.obolibrary.org/obo/DOID_9263 |
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| subClassOf |