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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176895
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176895
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|---|---|
| Preferred Name | Mitochondrial Complex IV Deficiency, Nuclear Type 1 |
| Definitions |
An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes.
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| Synonyms |
Mitochondrial Complex IV Deficiency, Nuclear Type 1
MC4DN1
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Mitochondrial Complex IV Deficiency, Nuclear Type 1
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|---|---|
| Preferred_Name |
Mitochondrial Complex IV Deficiency, Nuclear Type 1
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C176895
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| DEFINITION |
An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes.
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| NCI_META_CUI |
CL1642934
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| code |
C176895
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| subClassOf | |
| type | |
| FULL_SYN |
Mitochondrial Complex IV Deficiency, Nuclear Type 1
MC4DN1
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| Contributing_Source |
Cellosaurus
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| Concept_In_Subset |
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