OMIM genes - 176830
MIM gene number: 176830
HGNC-approved symbol: POMC — Proopiomelanocortin (adrenocorticotropin/beta-lipotropin)

Position: chr2:25160860-25168580
Band: 2p23.3
Genomic Size: 7721
Alternative symbols: OBAIRH
Related Transcripts: ENST00000264708.7, ENST00000395826.7
Phenotype Phenotype MIM Number Inheritance Phenotype Key
Obesity, adrenal insufficiency, and red hair due to POMC deficiency 609734 Autosomal recessive 3 - molecular basis of the disease is known
{Obesity, early-onset, susceptibility to} 601665 Multifactorial, Autosomal dominant, Autosomal recessive 3 - molecular basis of the disease is known
Data schema/format description and download

Go to OMIM Genes track controls

Data last updated at UCSC: 2023-05-31


OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. Further, please be sure to click through to for the very latest, as they are continually updating data.

OMIM is the property of Johns Hopkins University and is not available for download or mirroring by any third party without their permission. Please see OMIM for downloads.

OMIM is a compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known Mendelian disorders and over 12,000 genes. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. This database was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of Mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM).

The OMIM data are separated into three separate tracks:

OMIM Alleles
    Variants in the OMIM database that have associated dbSNP identifiers. This track is currently unavailable on the hg38 assembly, as it depends on dbSNP data that has not been released yet.

OMIM Genes
    The genomic positions of gene entries in the OMIM database. The coloring indicates the associated OMIM phenotype map key.

OMIM Phenotypes - Gene Unknown
    Regions known to be associated with a phenotype, but for which no specific gene is known to be causative. This track also includes known multi-gene syndromes.

This track shows the genomic positions of all gene entries in the Online Mendelian Inheritance in Man (OMIM) database.

Display Conventions and Configuration

Genomic locations of OMIM gene entries are displayed as solid blocks. The entries are colored according to the associated OMIM phenotype map key (if any):

  • Lighter Green for phenotype map key 1 OMIM records - the disorder has been placed on the map based on its association with a gene, but the underlying defect is not known.
  • Light Green for phenotype map key 2 OMIM records - the disorder has been placed on the map by linkage; no mutation has been found.
  • Dark Green for phenotype map key 3 OMIM records - the molecular basis for the disorder is known; a mutation has been found in the gene.
  • Purple for phenotype map key 4 OMIM records - a contiguous gene deletion or duplication syndrome; multiple genes are deleted or duplicated causing the phenotype.
  • Light Gray for Others - no associated OMIM phenotype map key info available.

Gene symbol and disease information, when available, are displayed on the details page for an item, and links to related RefSeq Genes and UCSC Genes are given.

The descriptions of the OMIM entries are shown on the main browser display when Full display mode is chosen. In Pack mode, the descriptions are shown when mousing over each entry. Items displayed can be filtered according to phenotype map key on the track controls page.


The mappings displayed in this track are based on OMIM gene entries, their Entrez Gene IDs, and the corresponding RefSeq Gene locations:

  • The data file genemap.txt from OMIM was loaded into the MySQL table omimGeneMap.
  • The data file mim2gene.txt from OMIM was processed and loaded into the MySQL table omim2gene.
  • Entries in genemap.txt having disorder info were parsed and loaded into the omimPhenotype table.
  • For each OMIM gene in the omim2gene table, the Entrez Gene ID was used to get the corresponding RefSeq Gene ID via the ncbiRefLink table, and the RefSeq ID was used to get the genomic location from the ncbiRefSeq table. The OMIM gene IDs and corresponding RefSeq Gene locations were loaded into the omimGene2 table, the primary table for this track.

Data Access

Because OMIM has only allowed Data queries within individual chromosomes, no download files are available from the Genome Browser. Full genome datasets can be downloaded directly from the OMIM Downloads page. All genome-wide downloads are freely available from OMIM after registration.

If you need the OMIM data in exactly the format of the UCSC Genome Browser, for example if you are running a UCSC Genome Browser local installation (a partial "mirror"), please create a user account on and contact OMIM via Send them your OMIM account name and request access to the UCSC Genome Browser "entitlement". They will then grant you access to a MySQL/MariaDB data dump that contains all UCSC Genome Browser OMIM tables.

UCSC offers queries within chromosomes from Table Browser that include a variety of filtering options and cross-referencing other datasets using our Data Integrator tool. UCSC also has an API that can be used to retrieve data in JSON format from a particular chromosome range.

Please refer to our searchable mailing list archives for more questions and example queries, or our Data Access FAQ for more information.

Example: Retrieve phenotype, Mode of Inheritance, and other OMIM data within a range

  1. Go to Table Browser, make sure the right dataset is selected: group: Phenotype and Literature, track: OMIM Genes, table: omimGene2.
  2. Define region of interest by entering coordinates or a gene symbol into the "Position" textbox, such as chr1:11,106,535-11,262,551 or MTOR, or upload a list.
  3. Format your data by setting the "Output format" dropdown to "selected fields from primary and related Tables" and click . This brings up the data field and linked table selection page.
  4. Select chrom, chromStart, chromEnd, and name from omimGene2 table. Then select the related tables omim2gene and omimPhenotype and click . This brings up the fields of the linked tables, where you can select approvedGeneSymbol, omimID, description, omimPhenotypeMapKey, and inhMode.
  5. Click on the to proceed to the results page:
    chr1	11106534	11262551	MTOR	601231,	Smith-Kingsmore syndrome,Focal cortical dysplasia, type II, somatic,	3,	Autosomal dominant

For a quick link to pre-fill these options, click this session link.


Thanks to OMIM and NCBI for the use of their data. This track was constructed by Fan Hsu, Robert Kuhn, and Brooke Rhead of the UCSC Genome Bioinformatics Group.


Amberger J, Bocchini CA, Scott AF, Hamosh A. McKusick's Online Mendelian Inheritance in Man (OMIM®). Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. Epub 2008 Oct 8.

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.