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loading...| Preferred Name |
Molybdenum Cofactor Deficiency |
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| Synonyms |
Molybdenum Cofactor Deficiency |
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| Definitions |
An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129076 |
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| code |
C129076 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features. |
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| FULL_SYN |
Molybdenum Cofactor Deficiency |
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| label |
Molybdenum Cofactor Deficiency |
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| Preferred_Name |
Molybdenum Cofactor Deficiency |
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| prefixIRI |
Thesaurus:C129076 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268119 |
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| subClassOf |
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