OMIM Search Help





1.1
Basic Search

For basic searches, simply enter the terms in the search box and click the 'Search' button:

duchenne muscular dystrophy

The search engine will search for them in any order, ranking the entries containing all the terms higher than entries containing some of the terms.

Searches are case-insensitive, so a search for 'duchenne', 'Duchenne', or 'DUCHENNE' will return the same entries.


1.2
+/- Operators

Adding a '+' (plus) operator before specific terms will ensure that these appear in the entries returned:

+duchenne +muscular dystrophy

The returned entries will contain the terms 'duchenne' and 'muscular', but may or may not contain the term 'dystrophy'.

Conversely, you can affix a '-' (minus) operator to a term if you want to exclude entries that contain it:

+muscular +dystrophy -duchenne

The returned entries will contain the terms 'muscular' and 'dystrophy', but will not contain the term 'duchenne'.


1.3
Phrase Search

You can search for phrases by adding quotation marks at both ends of the phrase:

"duchenne muscular dystrophy"

Only entries containing the phrase "duchenne muscular dystrophy" will be returned.

You can change the proximity of terms using the tilda (~) followed by a number indicating the number of terms between the terms in the phrase:

"duchenne dystrophy"~1

Will retrieve documents containing "duchenne dystrophy" and "duchenne muscular dystrophy"d.

You can also combine the '-' operator described above with phrase searches, so the search:

"muscular dystrophy" -"duchenne gene"

will return entries that contain the phrase "muscular dystrophy" but do not contain the phrase "duchenne gene".


1.4
Wildcard Search

Two wildcard operators are supported: the '?' (question mark), which is used for single-character wildcard searches, and '*' (star), which is used for multiple-character wildcard searches. For example:

dystroph*

will return entries that contain 'dystrophia', 'dystrophin', 'dystrophic', 'dystrophy', etc...

And:

dystrophi?

will return entries that contain 'dystrophia', 'dystrophin', 'dystrophic', etc., but will not return 'dystrophins'.

However:

dystroph??

will return entries that contain 'dystrophia', 'dystrophin', 'dystrophic', etc., but will not return 'dystrophy'.

You can also insert the wildcard within a term, for example:

dystro*ia

or:

dystro??i?

Finally you can use leading wildcards, for example to search for hypocortisolism/hypercortisolism:

*cortisolism

or:

hy*cortisolism

This will also help for terms which can be spelt in different ways, for example to search for 3-methylglutaric acid:

*glutar*


1.5
Fielded Search

You can search on specific fields within an entry. For example, to search only within the 'title' field you would use:

title:duchenne

Note that there cannot be any spaces between the field name, the colon, and the term.

To do a fielded search for the terms 'duchenne', 'muscular' and 'dystrophy' in the 'title' field, you could use:

title:duchenne title:muscular title:dystrophy

A more elegant way to express this is to 'group' the search using parentheses as follows:

title:(duchenne muscular dystrophy)

Note that there cannot be any spaces between the field name, the colon, and the left parenthesis.

As mentioned in the 'Basic Search' section above, this will search for the terms in any order. You can use the '+' operator to ensure that the entries contain all the terms as follows:

title:(+duchenne +muscular +dystrophy)

And to search for a phrase within a field, you would use:

title:"duchenne muscular dystrophy"

Note that the parentheses have been replaced by quotation marks and that there are no spaces between the field name, the colon, and the left quotation mark.

OMIM has many fields you can search on. These are listed further down in this document along with examples for common and complex searches.


1.6
Boolean Operators

Like most search engines, the 'AND', 'OR' and 'NOT' boolean operators are supported. For example:

duchenne AND muscular AND dystrophy

which could also be written as:

+duchenne +muscular +dystrophy

Or this search:

muscular AND dystrophy NOT duchenne

which could also be written as:

+muscular +dystrophy -duchenne

Both ways work equally well, though we strongly recommend using the '+' and '-' operators over the boolean operators because they are less ambiguous and provide better control.

Note that boolean operators must be in UPPER case and it is a good idea to use parentheses to set operator precedence.

(duchenne AND dystrophy) OR (becker AND dystrophy)


1.7
Search Grouping

It is usually a good idea to use search grouping to indicate precedence in a search containing boolean operators. For example, the search:

muscular AND dystrophy OR duchenne AND gene

could be ambiguous.

Using search groupings (using the left and right parentheses) would make the search clearer:

(muscular AND dystrophy) OR (duchenne AND gene)

Searches can be grouped to create arbitrarily complex searches:

( (muscular AND dystrophy) OR (duchenne AND gene) ) NOT (becker OR Emery-Dreifuss)


1.8
Proximity Search

A proximity search can be used to limit the distance in words between two terms. This is done by using the '~' (tilde) operator:

"muscular dystrophy"~10

This will return entries where the terms 'muscular' and 'dystrophy' are less than 10 words apart.

Note that this distance is direction-independent, so 'muscular ... dystrophy' is the same as 'dystrophy ... muscular'.


1.9
Term Weight Boosting Search

Individual terms in a search can be boosted with respect to each other. Terms in a search have a weight of 1 by text; however, the '^' (caret) operator can be used to boost the weight of individual terms. For example:

muscular dystrophy^10

will boost the weight of the term 'dystrophy' by a factor of 10.


1.10
Date Search

Date searches are done using dates or date ranges. For example:

date_updated:2014/7/1

will return entries updated on July 1st, 2014

date_updated:2014/7

will return entries updated in July 2014

date_updated:2014

will return entries updated in 2014

date_updated:2014/7/1-*

will return entries updated from July 1st, 2014 up to today

date_updated:2014/7-*

will return entries updated from July 2014 up to today

date_updated:2014-*

will return entries updated from 2014 up to today

date_updated:*-2014/7/1

will return entries updated from the start to July 1st, 2014

date_updated:*-2014/7

will return entries updated from the start to July 2014

date_updated:*-2014

will return entries updated from the start to 2014

date_updated:2014/7/1-2014/10/1

will return entries updated from July 1st, 2014 up to October 1st, 2014

date_updated:2014/7-2014/10

will return entries updated from July 2014 up to October 2014

date_updated:2014-2015

will return entries updated from 2014 up to 2015

date_updated:yesterday

will return entries updated yesterday

date_updated:lastweek

will return entries updated in the last week

date_updated:lastmonth

will return entries updated in the last month

date_updated:lastyear

will return entries updated in the last year


1.11
CytoLocation/Genomic Coordinate Search

The gene map index supports searches on cytoLocation. For example:

1p36

will return entries starting at that band (the pter end)

1:124,300,000

will return entries starting at that position

1p36-p32

will return entries that start, end or overlap that region

1p32-p32

will return entries that start, end or overlap that band

1:12,000,000-48,000,000

will return entries that start, end or overlap that region

1:12,000,000-12,000,000

will return entries that start, end or overlap that position

1 or chr1

will return entries on that chromosome


2.1
OMIM Search Overview

Searches that don't specify a field are called 'text' searches, and the table below indicates which fields are included in a 'text' search. For entries this includes all fields except for the external data fields. This search will search all fields (except the external data fields):

duchenne muscular dystrophy

Some search fields are grouped into a 'meta' search field. One of these is the 'title' search field. Searching on this field will search the preferred, alternative, and included title fields simultaneously:

title:(duchenne muscular dystrophy)

To restrict the search to only one of these fields, use 'ti_preferred', 'ti_alternative', or 'ti_included' before your search term:

ti_preferred:(duchenne muscular dystrophy)

There are a number of meta search fields, and these generally mirror the sections that make up a MIM entry.

Some search fields support a restricted vocabulary. One such field is 'status' that contains the status of an entry, whether an entry is 'live', 'moved', or 'removed'. This search would only return entries that are live:

status:live

Whereas this search would return entries that have been moved:

status:moved

Some search fields are booleans containing either 'true' or 'false' as values. One such field is 'av_exists' which is set to 'true' for entries that contain allelic variants and 'false' for entries that don't. This search would return only entries that contain allelic variants:

av_exists:true

Conversely this search would return only entries that don't contain allelic variants:

av_exists:false


2.2
OMIM Example Searches

Here are some example searches with an explanation of how they are interpreted:

blindness hypertelorism

Is interpreted as:

blindness OR hypertelorism

Using '+' to require terms:

+blindness +hypertelorism

Is interpreted as:

blindness AND hypertelorism

Using '-' to negate terms:

+blindness -hypertelorism

Is interpreted as:

blindness NOT hypertelorism

Using quotes for a phrase search:

"short stature"

A wide number of external identifiers are indexed in OMIM, this section described some of those.

References in OMIM are matched against PubMed and the PubMed IDs can be searched for:

ref_pubmed_id:3294410

You can search for the Approved Gene Symbol:

approved_gene_symbol:DMD

Or you can search for the NCBI Gene ID:

gene_id:1756

Wormbase IDs are also searchable:

wormbase_id:WBGene00140105

The list of external IDs is extensive and is located at the end of the OMIM Search Fields list, in the External Data section.

Restricting searches to specific prefixes is done as follows:

duchenne AND prefix:*

duchenne AND prefix:+

duchenne AND prefix:#

duchenne AND prefix:%

duchenne AND prefix:none


2.3
OMIM Search Fields

Note that the external data (located at the bottom of the table) is not included in an unfielded search, so if you wanted to search for an HGNC Approved Gene Symbol, you would need to search on the 'approved_gene_symbol' field specifically:

approved_gene_symbol:MZT1


Field Name Field Description Meta Fields Comments
text text meta field default search field
number mim number text key field
prefix prefix text
title title meta field
ti_preferred preferred title title, text
ti_alternative alternative title title, text
ti_included included title title, text
status status (live/moved/removed)
moved_to mim number moved to
tx tx meta field
gene_symbol gene symbol
gene_symbol_exists flags the presence of a gene symbol boolean
tx_animal_model animal model tx, text
tx_animal_model_exists flags the presence of animal model boolean
tx_biochemical_features biochemical features tx, text
tx_biochemical_features_exists flags the presence of biochemical features boolean
tx_clinical_features clinical features tx, text
tx_clinical_features_exists flags the presence of clinical features boolean
tx_clinical_management clinical management tx, text
tx_clinical_management_exists flags the presence of clinical management boolean
tx_cloning cloning tx, text
tx_cloning_exists flags the presence of cloning boolean
tx_cytogenetics cytogenetics tx, text
tx_cytogenetics_exists flags the presence of cytogenetics boolean
tx_description description tx, text
tx_description_exists flags the presence of description boolean
tx_diagnosis diagnosis tx, text
tx_diagnosis_exists flags the presence of diagnosis boolean
tx_evolution evolution tx, text
tx_evolution_exists flags the presence of evolution boolean
tx_gene_family gene family tx, text
tx_gene_family_exists flags the presence of gene family boolean
tx_gene_function gene function tx, text
tx_gene_function_exists flags the presence of gene function boolean
tx_gene_structure gene structure tx, text
tx_gene_structure_exists flags the presence of gene structure boolean
tx_gene_therapy gene therapy tx, text
tx_gene_therapy_exists flags the presence of gene therapy boolean
tx_genetic_variability genetic variability tx, text
tx_genetic_variability_exists flags the presence of genetic variability boolean
tx_genotype genotype tx, text
tx_genotype_exists flags the presence of genotype boolean
tx_genotype_phenotype_correlations genotype phenotype correlations tx, text
tx_genotype_phenotype_correlations_exists flags the presence of genotype phenotype correlations boolean
tx_heterogeneity heterogeneity tx, text
tx_heterogeneity_exists flags the presence of heterogeneity boolean
tx_history history tx, text
tx_history_exists flags the presence of history boolean
tx_inheritance inheritance tx, text
tx_inheritance_exists flags the presence of inheritance boolean
tx_mapping mapping tx, text
tx_mapping_exists flags the presence of mapping boolean
tx_molecular_genetics molecular genetics tx, text
tx_molecular_genetics_exists flags the presence of molecular genetics boolean
tx_nomenclature nomenclature tx, text
tx_nomenclatures_exists flags the presence of nomenclature boolean
tx_other_features other features tx, text
tx_other_features_exists flags the presence of other features boolean
tx_pathogenesis pathogenesis tx, text
tx_pathogenesis_exists flags the presence of pathogenesis boolean
tx_phenotype phenotype tx, text
tx_phenotype_exists flags the presence of phenotype boolean
tx_population_genetics population genetics tx, text
tx_population_genetics_exists flags the presence of population genetics boolean
av allelic variant meta field
av_exists flags the presence of allelic variants boolean
av_number number in the format #### av, text
av_name name av, text
av_alternative_names included names av, text
av_mutations mutations av, text
av_text text av, text
av_db_snp db SNP av, text
av_clinvar_accession ClinVar accession
avexac_db_snp db SNP in ExAC av, text boolean
cs clinical synopsis meta field
cs_exists flags the presence of a clinical synopsis boolean
cs_* includes text the clinical synopsis fields that start with 'cs' - see below cs, text
cs_date_created clinical synopsis date created
cs_date_updated clinical synopsis date updated
see_also see also text
ref reference meta field
ref_author author ref, text
ref_title title ref, text
ref_source source ref, text
ref_pubmed_id Pubmed ID ref, text
ref_article_url article url ref, text
ref_doi doi ref, text
gm_exists flags the presence in the gene map either as a gene or a phenotype boolean
gm_gene_exists flags the presence in the gene map as a gene boolean
gm_gene_phenotype_exists flags the presence in the gene map as a gene with phenotypes boolean
gm_phenotype_exists flags the presence in the gene map as a phenotype boolean
phenotype_exists flags the presence in the gene map as a phenotype boolean
gm_gene_mim_number the gene entry mim number for phenotype entries text
gm_phenotype_mim_number the phenotype entry mim number for gene entries text
gm_phenotype_mapping_key the gene map phenotype mapping key 1, 2, 3, 4
gm_comments the gene map comments text
gm_mouse_symbol the mouse symbol text
chromosome chromosome 1-22, X, Y, M, U
chromosome_number chromosome number 1-22, 23, 24, 25, 0
chromosome_group chromosome group A - Autosomal, S - XY, M - Mitochondria, U - Unset
phenotypic_series_number the phenotypic series number text text
contributors contributors (includes creator) text
creator creator text
date_created date created date
date_updated date updated date
External Data
approved_gene_symbol approved gene symbol
approved_gene_symbol_exists flags the presence of an approved gene symbol boolean
gene_id NCBI gene ID
gene_id_exists flags the presence of an NCBI gene ID boolean
ncbi_reference_sequence NCBI reference sequence
ncbi_reference_sequence_exists flags the presence of an NCBI reference sequence boolean
genbank_nucleotide_sequence Genbank nucleotide sequence
genbank_nucleotide_sequence_exists flags the presence of a Genbank nucleotide sequence boolean
protein_sequence protein sequence
protein_sequence_exists flags the presence of a protein sequence boolean
uni_gene Uni Gene
uni_gene_exists flags the presence of a Uni Gene boolean
ensembl_id Ensembl ID
ensembl_id_exists flags the presence of an Ensembl ID boolean
swiss_prot_id Swiss Prot ID
swiss_prot_id_exists flags the presence of a Swiss Prot ID boolean
locus_specific_database_name locus specific database name (currently excluded)
locus_specific_database_url locus specific database url (currently excluded)
locus_specific_database_exists flags the presence of a locus specific database boolean
mgi_id MGI ID
mgi_id_exists flags the presence of an MGI ID boolean
mgi_human_disease MGI human disease boolean
wormbase_id WormBase ID
wormbase_id_exists flags the presence of a WormBase ID boolean
nbk_id NBK ID
possum_id Possum ID (currently excluded)
possum_syndrome_name Possum syndrome name (currently excluded)
possum_id_exists flags the presence of a Possum ID boolean
flybase_id FlyBase ID
flybase_id_exists flags the presence of a FlyBase ID boolean
zfin_id ZFIN ID
zfin_id_exists flags the presence of a ZFIN ID boolean
newborn_screening_url Newborn Screening url
newborn_screening_url_exists flags the presence of a Newborn Screening url boolean
hprd_id HPRD ID
hprd_id_exists flags the presence of a HPRD ID boolean
coriell_disease_name Coriell disease name
coriell_id_exists flags the presence of a Coriell ID boolean
derm_atlas Derm Atlas boolean
orphanet_id Orphanet ID
orphanet_disease_name Orphanet disease name
orphanet_id_exists flags the presence of an Orphanet ID boolean
ref_seq_accession_id RefSeq accession ID
ref_seq_accession_id_exists flags the presence of a RefSeq accession ID boolean
ordr_id ORDR ID
ordr_disease_name ORDR disease name
ordr_id_exists flags the presence of an ORDR ID boolean
decipher_name DECIPHER name (currently excluded)
decipher_url DECIPHER url (currently excluded)
decipher_exists flags the presence of a DECIPHER link boolean
ghr_type Genetics Home Reference type gene|condition
ghr_title Genetics Home Reference title
ghr_id Genetics Home Reference ID
ghr_id_exists flags the presence of a Genetics Home Reference ID boolean
omia_id OMIA ID
omia_group OMIA Group
omia_id_exists flags the presence of an OMIA ID boolean
snomedct_id SNOMEDCT ID
snomedct_id_exists flags the presence of a SNOMEDCT ID boolean
icd10cm_id ICD10CM ID
icd10cm_id_exists flags the presence of an ICD10CM ID boolean
icd9cm_id ICD9CM ID
icd9cm_id_exists flags the presence of an ICD9CM ID boolean
umls_id UMLS ID
umls_id_exists flags the presence of an UMLS ID boolean
gtr GTR boolean
disease_ontology_id Disease Ontology ID
disease_ontology_id_exists flags the presence of a Disease Ontology ID boolean
genetic_alliance_id Genetic Alliance ID
genetic_alliance_id_exists flags the presence of a Genetic Alliance ID boolean
cmg_gene CMG gene boolean
kegg_pathways KEGG Pathways boolean
gwas_catalog GWAS Catalog boolean
clin_gen ClinGen boolean
monarch Monarch boolean

2.4
Clinical Synopsis Search Fields

Field Name Field Description Meta Fields Comments
text text meta field default search field
number mim number text key field
prefix prefix text
cs clinical synopsis meta field
title title meta field
ti_preferred preferred title title, cs, text
cs_inheritance inheritance cs, text
cs_inheritance_exists flags the presence of inheritance boolean
cs_growth growth meta field
cs_growth_exists flags the presence of growth (and subheadings) boolean
cs_growth_height growth/height cs_growth, cs, text
cs_growth_height_exists flags the presence of growth/height boolean
cs_growth_weight growth/weight cs_growth, cs, text
cs_growth_weight_exists flags the presence of growth/weight boolean
cs_growth_other growth/other cs_growth, cs, text
cs_growth_other_exists flags the presence of growth/other boolean
cs_head_and_neck head and neck meta field
cs_head_and_neck_exists flags the presence of head and neck (and subheadings) boolean
cs_head_and_neck_head head and neck/head cs_head_and_neck, cs, text
cs_head_and_neck_head_exists flags the presence of head and neck/head boolean
cs_head_and_neck_face head and neck/face cs_head_and_neck, cs, text
cs_head_and_neck_face_exists flags the presence of head and neck/face boolean
cs_head_and_neck_ears head and neck/ears cs_head_and_neck, cs, text
cs_head_and_neck_ears_exists flags the presence of head and neck/ears boolean
cs_head_and_neck_eyes head and neck/eyes cs_head_and_neck, cs, text
cs_head_and_neck_eyes_exists flags the presence of head and neck/eyes boolean
cs_head_and_neck_nose head and neck/nose cs_head_and_neck, cs, text
cs_head_and_neck_nose_exists flags the presence of head and neck/nose boolean
cs_head_and_neck_mouth head and neck/mouth cs_head_and_neck, cs, text
cs_head_and_neck_mouth_exists flags the presence of head and neck/mouth boolean
cs_head_and_neck_teeth head and neck/teeth cs_head_and_neck, cs, text
cs_head_and_neck_teeth_exists flags the presence of head and neck/teeth boolean
cs_head_and_neck_neck head and neck/neck cs_head_and_neck, cs, text
cs_head_and_neck_neck_exists flags the presence of head and neck/neck boolean
cs_cardiovascular cardiovascular meta field
cs_cardiovascular_exists flags the presence of cardiovascular (and subheadings) boolean
cs_cardiovascular_heart cardiovascular/heart cs_cardiovascular, cs, text
cs_cardiovascular_heart_exists flags the presence of cardiovascular/heart boolean
cs_cardiovascular_vascular cardiovascular/vascular cs_cardiovascular, cs, text
cs_cardiovascular_vascular_exists flags the presence of cardiovascular/vascular boolean
cs_respiratory respiratory meta field
cs_respiratory_exists flags the presence of respiratory (and subheadings) boolean
cs_respiratory_nasopharynx respiratory/nasopharynx cs_respiratory, cs, text
cs_respiratory_nasopharynx_exists flags the presence of respiratory/nasopharynx boolean
cs_respiratory_larynx respiratory/larynx cs_respiratory, cs, text
cs_respiratory_larynx_exists flags the presence of respiratory/larynx boolean
cs_respiratory_airways respiratory/airways cs_respiratory, cs, text
cs_respiratory_airways_exists flags the presence of respiratory/airways boolean
cs_respiratory_lung respiratory/lung cs_respiratory, cs, text
cs_respiratory_lung_exists flags the presence of respiratory/lung boolean
cs_chest chest meta field
cs_chest_exists flags the presence of chest (and subheadings) boolean
cs_chest_external_features chest/external features cs_chest, cs, text
cs_chest_external_features_exists flags the presence of chest/external features boolean
cs_chest_ribs_sternum_clavicle_and_scapulae chest/ribs sternum clavicle and scapulae cs_chest, cs, text
cs_chest_ribs_sternum_clavicle_and_scapulae_exists flags the presence of chest/ribs sternum clavicle and scapulae boolean
cs_chest_breasts chest/breasts cs_chest, cs, text
cs_chest_breasts_exists flags the presence of chest/breasts boolean
cs_chest_diaphragm chest/diaphragm cs_chest, cs, text
cs_chest_diaphragm_exists flags the presence of chest/diaphragm boolean
cs_abdomen abdomen meta field
cs_abdomen_exists flags the presence of abdomen (and subheadings) boolean
cs_abdomen_external_features abdomen/external features cs_abdomen, cs, text
cs_abdomen_external_features_exists flags the presence of abdomen/external features boolean
cs_abdomen_liver abdomen/liver cs_abdomen, cs, text
cs_abdomen_liver_exists flags the presence of abdomen/liver boolean
cs_abdomen_pancreas abdomen/pancreas cs_abdomen, cs, text
cs_abdomen_pancreas_exists flags the presence of abdomen/pancreas boolean
cs_abdomen_biliary_tract abdomen/biliary tract cs_abdomen, cs, text
cs_abdomen_biliary_tract_exists flags the presence of abdomen/biliary tract boolean
cs_abdomen_spleen abdomen/spleen cs_abdomen, cs, text
cs_abdomen_spleen_exists flags the presence of abdomen/spleen boolean
cs_abdomen_gastrointestinal abdomen/gastrointestinal cs_abdomen, cs, text
cs_abdomen_gastrointestinal_exists flags the presence of abdomen/gastrointestinal boolean
cs_genitourinary genitourinary meta field
cs_genitourinary_exists flags the presence of genitourinary (and subheadings) boolean
cs_genitourinary_external_genitalia_male genitourinary/external genitalia male cs_genitourinary, cs, text
cs_genitourinary_external_genitalia_male_exists flags the presence of genitourinary/external genitalia male boolean
cs_genitourinary_external_genitalia_female genitourinary/external genitalia female cs_genitourinary, cs, text
cs_genitourinary_external_genitalia_female_exists flags the presence of genitourinary/external genitalia female boolean
cs_genitourinary_internal_genitalia_male genitourinary/internal genitalia male cs_genitourinary, cs, text
cs_genitourinary_internal_genitalia_male_exists flags the presence of genitourinary/internal genitalia male boolean
cs_genitourinary_internal_genitalia_female genitourinary/internal genitalia female cs_genitourinary, cs, text
cs_genitourinary_internal_genitalia_female_exists flags the presence of genitourinary/internal genitalia female boolean
cs_genitourinary_kidneys genitourinary/kidneys cs_genitourinary, cs, text
cs_genitourinary_kidneys_exists flags the presence of genitourinary/kidneys boolean
cs_genitourinary_ureters genitourinary/ureters cs_genitourinary, cs, text
cs_genitourinary_ureters_exists flags the presence of genitourinary/ureters boolean
cs_genitourinary_bladder genitourinary/bladder cs_genitourinary, cs, text
cs_genitourinary_bladder_exists flags the presence of genitourinary/bladder boolean
cs_skeletal skeletal meta field
cs_skeletal_exists flags the presence of skeletal (and subheadings) boolean
cs_skeletal_skull skeletal/skull cs_skeletal, cs, text
cs_skeletal_skull_exists flags the presence of skeletal/skull boolean
cs_skeletal_spine skeletal/spine cs_skeletal, cs, text
cs_skeletal_spine_exists flags the presence of skeletal/spine boolean
cs_skeletal_pelvis skeletal/pelvis cs_skeletal, cs, text
cs_skeletal_pelvis_exists flags the presence of skeletal/pelvis boolean
cs_skeletal_limbs skeletal/limbs cs_skeletal, cs, text
cs_skeletal_limbs_exists flags the presence of skeletal/limbs boolean
cs_skeletal_hands skeletal/hands cs_skeletal, cs, text
cs_skeletal_hands_exists flags the presence of skeletal/hands boolean
cs_skeletal_feet skeletal/feet cs_skeletal, cs, text
cs_skeletal_feet_exists flags the presence of skeletal/feet boolean
cs_skin_nails_hair skin nails hair meta field
cs_skin_nails_hair_exists flags the presence of skin nails hair (and subheadings) boolean
cs_skin_nails_hair_skin skin nails hair/skin cs_skin_nails_hair, cs, text
cs_skin_nails_hair_skin_exists flags the presence of skin nails hair/skin boolean
cs_skin_nails_hair_skin_histology skin nails hair/skin histology cs_skin_nails_hair, cs, text
cs_skin_nails_hair_skin_histology_exists flags the presence of skin nails hair/skin histology boolean
cs_skin_nails_hair_skin_electron_microscopy skin nails hair/skin electron microscopy cs_skin_nails_hair, cs, text
cs_skin_nails_hair_skin_electron_microscopy_exists flags the presence of skin nails hair/skin electron microscopy boolean
cs_skin_nails_hair_nails skin nails hair/nails cs_skin_nails_hair, cs, text
cs_skin_nails_hair_nails_exists flags the presence of skin nails hair/nails boolean
cs_skin_nails_hair_hair skin nails hair/hair cs_skin_nails_hair, cs, text
cs_skin_nails_hair_hair_exists flags the presence of skin nails hair/hair boolean
cs_muscle_soft_tissue muscle soft tissue meta field
cs_muscle_soft_tissue_exists flags the presence of muscle soft tissue boolean
cs_neurologic neurologic meta field
cs_neurologic_exists flags the presence of neurologic (and subheadings) boolean
cs_neurologic_central_nervous_system neurologic/central nervous system cs_neurologic, cs, text
cs_neurologic_central_nervous_system_exists flags the presence of neurologic/central nervous system boolean
cs_neurologic_peripheral_nervous_system neurologic/peripheral nervous system cs_neurologic, cs, text
cs_neurologic_peripheral_nervous_system_exists flags the presence of neurologic/peripheral nervous system boolean
cs_neurologic_behavioral_psychiatric_manifestations neurologic/behavioral psychiatric manifestations cs_neurologic, cs, text
cs_neurologic_behavioral_psychiatric_manifestations_exists flags the presence of neurologic/behavioral psychiatric manifestations boolean
cs_voice voice cs, text
cs_voice_exists flags the presence of voice boolean
cs_metabolic_features metabolic features cs, text
cs_metabolic_features_exists flags the presence of metabolic features boolean
cs_endocrine_features endocrine features cs, text
cs_endocrine_features_exists flags the presence of endocrine features boolean
cs_hematology hematology cs, text
cs_hematology_exists flags the presence of hematology boolean
cs_immunology immunology cs, text
cs_immunology_exists flags the presence of immunology boolean
cs_neoplasia neoplasia cs, text
cs_neoplasia_exists flags the presence of neoplasia boolean
cs_prenatal_manifestations prenatal manifestations meta field
cs_prenatal_manifestations_exists flags the presence of prenatal manifestations (and subheadings) boolean
cs_prenatal_manifestations_movement prenatal manifestations/movement cs_prenatal_manifestations, cs, text
cs_prenatal_manifestations_movement_exists flags the presence of prenatal manifestations/movement boolean
cs_prenatal_manifestations_amniotic_fluid prenatal manifestations/amniotic fluid cs_prenatal_manifestations, cs, text
cs_prenatal_manifestations_amniotic_fluid_exists flags the presence of prenatal manifestations/amniotic fluid boolean
cs_prenatal_manifestations_placenta_and_umbilical_cord prenatal manifestations/placenta and umbilical cord cs_prenatal_manifestations, cs, text
cs_prenatal_manifestations_placenta_and_umbilical_cord_exists flags the presence of prenatal manifestations/placenta and umbilical cord boolean
cs_prenatal_manifestations_maternal prenatal manifestations/maternal cs_prenatal_manifestations, cs, text
cs_prenatal_manifestations_maternal_exists flags the presence of prenatal manifestations/maternal boolean
cs_prenatal_manifestations_deliver prenatal manifestations/deliver cs_prenatal_manifestations, cs, text
cs_prenatal_manifestations_deliver_exists flags the presence of prenatal manifestations/deliver boolean
cs_laboratory_abnormalities laboratory abnormalities cs, text
cs_laboratory_abnormalities_exists flags the presence of laboratory abnormalities boolean
cs_miscellaneous miscellaneous cs, text
cs_miscellaneous_exists flags the presence of miscellaneous boolean
cs_molecular_basis molecular basis cs, text
cs_molecular_basis_exists flags the presence of molecular basis boolean
cs_old_format_exists flags the presence of old format boolean
cs_contributors contributors (includes creator) text
cs_creator creator text
date_created date created date
date_updated date updated date
External Data
cs_snomedct_id SNOMEDCT ID
cs_icd10cm_id ICD10CM ID
cs_icd9cm_id ICD9CM ID
cs_umls_id UMLS ID
cs_hpo_id HPO ID

2.5
Gene Map Search Fields

Field Name Field Description Meta Fields Comments
sequence_id sequence ID key field
chromosome chromosome 1-22, X, Y
chromosome_number chromosome number 1-22, 23, 24
chromosome_group chromosome group A - Autosomal, S - XY
chromosome_location_start start chromosome location
chromosome_location_end end chromosome location text
transcript transcript text
cyto_location cyto location
computed_cyto_location computed cyto location
number mim number text
gene_symbol gene symbol text
gene_name gene name text
mapping_method mapping method
confidence confidence (Deprecated, will be removed October 1st, 2018)
references references text
comments comments text
phenotype_exists phenotype exists boolean
phenotype phenotype text text
phenotype_number phenotype mim number text
phenotypic_series_number phenotypic series number text
phenotype_mapping_key phenotype mapping key 1, 2, 3, 4
mouse_gene_symbol mouse gene symbol
mouse_mgi_id mouse MGI ID