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.
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'.
You can use parentheses if you want to ensure the returned entries contain any of the terms:
+(duchenne muscular dystrophy)
Conversely, you can affix a '-' (minus) operator to a term if you want to exclude entries that contain any of the terms as follows:
-(duchenne muscular dystrophy)
You can add a affix a '+' (plus) operator to a phrase to require that entries contain it as follows:
+"duchenne muscular dystrophy"
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".
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".
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*
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)
Alternatively you can preprend the '+' operator to the field name to ensure the returned entries contain any of the terms:
+title:(duchenne muscular dystrophy)
Conversely you can use the '-' operator to exclude entries that contain all of the terms as follows:
title:(-duchenne -muscular -dystrophy)
Alternatively you can preprend the '-' operator to the exclude entries that contain any of the terms as follows:
-title:(duchenne muscular dystrophy)
And to search for a phrase within a field, you would use:
title:"duchenne muscular dystrophy"
And to require the presence of 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.
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)
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
would 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)
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'.
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.
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
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
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
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
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 | |
| gene_symbol | gene symbol | ||
| gene_symbol_exists | flags the presence of a gene symbol | boolean | |
| status | status | (live/moved/removed) | |
| moved_to | mim number moved to | ||
| tx | tx meta field | ||
| tx_text | text section | tx, text | |
| tx_text_exists | flags the presence of text section | 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 | ||
| av_gnomad_snp | SNP in gnomAD | 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 | |
| genemap_exists | flags the presence in the gene map either as a gene or a phenotype | boolean | |
| phenotype_exists | flags the presence in the gene map as a phenotype or a gene with a phenotype | boolean | |
| 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 | |
| molecular_series_number | the molecular series number | text | text |
| molecular_series_exists | flags the presence in molecular series | boolean | |
| phenotypic_series_number | the phenotypic series number | text | text |
| phenotypic_series_exists | flags the presence in a phenotypic series | boolean | |
| phenotype_mapping_key | phenotype mapping key | 1, 2, 3, 4 | |
| imprinting_region_exists | flags that the genomic coordinate is within or straddles a region that is subject to imprinting | boolean | |
| contributors | contributors | text | |
| creator | creator | text | |
| date_created | date created | date | |
| date_updated | date updated | date | |
| External Data | |||
| 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 | |
| ncbi_reference_sequence_mane_select_exists | flags the presence of an NCBI reference sequence (MANE Select) | boolean | |
| approved_gene_symbol | approved gene symbol | ||
| approved_gene_symbol_exists | flags the presence of an approved gene symbol | boolean | |
| ensembl_id | Ensembl ID | ||
| ensembl_id_exists | flags the presence of an Ensembl ID | boolean | |
| ensembl_id_select_exists | flags the presence of an Ensembl ID (MANE Select) | 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 | |
| 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 | |
| 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 | |
| orphanet_id | Orphanet ID | ||
| orphanet_disease_name | Orphanet disease name | ||
| orphanet_id_exists | flags the presence of an Orphanet ID | boolean | |
| ordr_id | ORDR ID | ||
| ordr_disease_name | ORDR disease name | ||
| ordr_id_exists | flags the presence of an ORDR ID | boolean | |
| decipher_syndrome_name | DECIPHER syndrome name | (currently excluded) | |
| decipher_syndrome_url | DECIPHER syndrome url | (currently excluded) | |
| decipher_syndrome_exists | flags the presence of a DECIPHER syndrome link | boolean | |
| decipher_gene | DECIPHER gene | boolean | |
| ghr_type | MedlinePlus Genetics type | gene|condition | |
| ghr_title | MedlinePlus Genetics title | ||
| ghr_id | MedlinePlus Genetics ID | ||
| ghr_id_exists | flags the presence of a MedlinePlus Genetics 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 | |
| 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 | |
| gtr | GTR | boolean | |
| cmg_gene | CMG gene | boolean | |
| kegg_pathways | KEGG Pathways | boolean | |
| gwas_catalog | GWAS Catalog | boolean | |
| clin_gen_dosage | ClinGen Dosage | boolean | |
| clin_gen_validity | ClinGen Validity | boolean | |
| monarch | Monarch | boolean | |
| newborn_screening_name | Newborn screening name | (currently excluded) | |
| newborn_screening_url | Newborn screening url | (currently excluded) | |
| newborn_screening_exists | flags the presence of newborn screening | boolean | |
| pharmgkb_id | PharmGKB ID | ||
| pharmgkb_id_exists | flags the presence of a PharmGKB ID | boolean | |
| alliance_genome | Alliance Genome | boolean | |
| 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 | 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 | ||
| 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 | |
| references | references | text | |
| comments | comments | text | |
| molecular_series_number | the molecular series number | text | text |
| molecular_series_exists | flags the presence in molecular series | boolean | |
| phenotype_exists | phenotype exists | boolean | |
| phenotype | phenotype text | text | |
| phenotype_number | phenotype mim number | text | |
| phenotypic_series_number | phenotypic series number | text | |
| phenotypic_series_exists | flags the presence in a phenotypic series | boolean | |
| phenotype_mapping_key | phenotype mapping key | 1, 2, 3, 4 | |
| phenotype_inheritance | phenotype inheritance | AD - Autosomal dominant, AR - Autosomal recessive, PD - Pseudoautosomal dominant, PR - Pseudoautosomal recessive, DD - Digenic dominant, DR - Digenic recessive, IC - Isolated cases, ICB - Inherited chromosomal imbalance, Mi - Mitochondrial, Mu - Multifactorial, SMo - Somatic mosaicism, SMu - Somatic mutation, XL - X-linked, XLD - X-linked dominant, XLR - X-linked recessive, YL - Y-linked | |
| imprinting_region_exists | flags that the genomic coordinate is within or straddles a region that is subject to imprinting | boolean | |
| gene_id | NCBI gene ID | ||
| approved_gene_symbol | approved gene symbol | ||
| ensembl_id | Ensembl ID | ||
| mouse_gene_symbol | mouse gene symbol | ||
| mouse_mgi_id | mouse MGI ID | ||