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loading...| Preferred Name |
Cerebrooculofacioskeletal Syndrome 1 |
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| Synonyms |
Cerebrooculofacioskeletal Syndrome 1 COFS1 |
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| Definitions |
An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173085 |
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| code |
C173085 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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| DEFINITION |
An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. |
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| FULL_SYN |
Cerebrooculofacioskeletal Syndrome 1 COFS1 |
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| label |
Cerebrooculofacioskeletal Syndrome 1 |
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| NCI_META_CUI |
CL1406974 |
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| Preferred_Name |
Cerebrooculofacioskeletal Syndrome 1 |
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| prefixIRI |
Thesaurus:C173085 |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |
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