# Human Genes

Human genes are modeled as cell structures in the Body structure hierarchy. Genes are named according to the *HUGO Gene Nomenclature Committee* (HGNC).

### Naming

* FSN: \<HGNC Approved Name> gene (cell structure)
  * Note: Only add *gene* if the HGNC Approved Name does not already include it.
  * Case sensitivity = CS
* PT: \<HGNC Gene Symbol> gene
  * Note the PT does not include a semantic tag.
  * The HGNC gene symbol is always UPPER CASE.
  * Case sensitivity = CS
* All HGNC Alias symbols must be added as additional descriptions.

#### Case Sensitivity

Conform to HGNC naming conventions. Note that HGNC approved names begin with a lowercase letter; the SNOMED FSN should retain this initial lowercase. This is an exception to SNOMED CT policy for descriptions.

### Modeling

Human genes are modeled with the following two IS A relationships:

* 382391000210108 |Gene structure (cell structure)|
  * Exception: Proto-oncogenes must be a subtype of 1396287006 |Proto-oncogene structure (cell structure)|.
* The specific Chromosomal band structure identified in the HGNC *chromosomal location* field.
  * Structure of chromosome band *\<X>* (cell structure)
  * If the specific band does not exist, it must be added.

#### Attribution

Each concept must include an attribution to the HGNC URI of the gene symbol report, stored in the \[Insert Specific Field/Refset Name].

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**Example 1: COQ4**

* IS A Structure of chromosome band 9q34.11 (cell structure)

* IS A 382391000210108 |Gene structure (cell structure)|

* FSN: coenzyme Q4 gene (cell structure)

* PT: COQ4 gene

* SY: CGI-92 gene

* Attribution: HGNC: [Gene symbol report | HUGO Gene Nomenclature Committee](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19693)

&#x20;

**Example 2: RET**

* IS A Structure of chromosome band 10q11.21 (cell structure)

* IS A 1396287006 |Proto-oncogene structure (cell structure)|

* FSN: ret proto-oncogene (cell structure)

* PT: RET gene

* SY: PTC gene

* SY: CDHF12 gene

* SY: RET51 gene

* SY: CDHR16 gene

* Attribution: HGNC: [Gene symbol report | HUGO Gene Nomenclature Committee](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9967)

### Previous symbols and alias symbols

Previous symbols and alias symbols are added to gene concepts, followed by the word *gene*, where they are unique to a specific approved gene name. Where the same previous or alias symbols appear on multiple genes, they are to be omitted.


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