--- type: "firecrawl-provider" description: "Orphanet, the INSERM rare disease knowledge base, through its Orphadata Science API (CC BY 4.0). Finds rare diseases by name, synonym or abbreviation (\"Pompe disease\", \"ALS\"), ORPHAcode, orpha.net page, OMIM number or ICD-10/ICD-11 code, with definition, synonyms and Orphanet's mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD. Gives each disease's prevalence, birth prevalence, lifetime prevalence, annual incidence and case counts by area (worldwide, Europe and other regions, 130 countries) with Orphanet's prevalence class, mean value per 100,000, validation status and source PMIDs, plus inheritance and age of onset; and its gene associations with association type, HGNC, Ensembl, UniProt and OMIM identifiers. About 11,600 entities; 6,700 have prevalence data, 4,200 have genes. Orphadata releases twice a year; every answer carries its data version, Orphadata's citation and its AI-use notice." use_when: "Orphanet, the INSERM rare disease knowledge base, through its Orphadata Science API (CC BY 4.0). Finds rare diseases by name, synonym or abbreviation (\"Pompe disease\", \"ALS\"), ORPHAcode, orpha.net page, OMIM number or ICD-10/ICD-11 code, with definition, synonyms and Orphanet's mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD. Gives each disease's prevalence, birth prevalence, lifetime prevalence, annual incidence and case counts by area (worldwide, Europe and other regions, 130 countries) with Orphanet's prevalence class, mean value per 100,000, validation status and source PMIDs, plus inheritance and age of onset; and its gene associations with association type, HGNC, Ensembl, UniProt and OMIM identifiers. About 11,600 entities; 6,700 have prevalence data, 4,200 have genes. Orphadata releases twice a year; every answer carries its data version, Orphadata's citation and its AI-use notice." categories: "Life sciences" capabilities: 3 credits_per_call: 5 --- # Orphanet (Orphadata): rare disease prevalence, codes and genes on Firecrawl Alexandria Orphanet, the INSERM rare disease knowledge base, through its Orphadata Science API (CC BY 4.0). Finds rare diseases by name, synonym or abbreviation ("Pompe disease", "ALS"), ORPHAcode, orpha.net page, OMIM number or ICD-10/ICD-11 code, with definition, synonyms and Orphanet's mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD. Gives each disease's prevalence, birth prevalence, lifetime prevalence, annual incidence and case counts by area (worldwide, Europe and other regions, 130 countries) with Orphanet's prevalence class, mean value per 100,000, validation status and source PMIDs, plus inheritance and age of onset; and its gene associations with association type, HGNC, Ensembl, UniProt and OMIM identifiers. About 11,600 entities; 6,700 have prevalence data, 4,200 have genes. Orphadata releases twice a year; every answer carries its data version, Orphadata's citation and its AI-use notice. - Categories: Life sciences - Category index: [Life sciences category](https://firecrawl.dev/alexandria/agents/categories/life-sciences) - Provider key: `orphadata-com` - Access: Firecrawl credits - Cost: 5 credits per call ## More - [Human guide](https://firecrawl.dev/app/alexandria/orphadata-com) - [OpenAPI spec](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/openapi.json) ## Capabilities - [Epidemiology](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/epidemiology): Orphanet's epidemiology for one rare disease: every prevalence, birth prevalence, lifetime prevalence, annual incidence and case-count record by area (worldwide, regions, countries), each with Orphanet's prevalence class, the mean value per 100,000 when published, validation status, and its sources as PubMed IDs, Orphanet estimates, expert opinion or registries; plus modes of inheritance and age of onset. Filter by area (ISO country codes or Orphanet region names), record type and validation. - [Genes](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/genes): Genes Orphanet associates with one rare disease: symbol, name, type and locus; the association (disease-causing germline or somatic mutation, loss or gain of function, susceptibility factor, fusion gene, phenotype modifier, candidate or biomarker) and whether it was assessed; HGNC, Ensembl, UniProt and OMIM gene identifiers; and the PubMed IDs behind it. When a disorder has no genes of its own, the genes of its subtypes, each naming the subtype. - [Search](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/search): Find rare diseases in Orphanet by name, synonym or abbreviation, ORPHAcode, orpha.net page URL, OMIM number, or ICD-10 / ICD-11 code. Returns each disease's ORPHAcode, preferred name, status (inactive entities say where Orphanet moved them), level and type, definition, synonyms, and its mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD, each with how closely it maps. Name searches match preferred names and synonyms word by word, best match first, and fall back to Orphanet's approximate search for misspellings. ## 1. Choose this provider when Orphanet, the INSERM rare disease knowledge base, through its Orphadata Science API (CC BY 4.0). Finds rare diseases by name, synonym or abbreviation ("Pompe disease", "ALS"), ORPHAcode, orpha.net page, OMIM number or ICD-10/ICD-11 code, with definition, synonyms and Orphanet's mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD. Gives each disease's prevalence, birth prevalence, lifetime prevalence, annual incidence and case counts by area (worldwide, Europe and other regions, 130 countries) with Orphanet's prevalence class, mean value per 100,000, validation status and source PMIDs, plus inheritance and age of onset; and its gene associations with association type, HGNC, Ensembl, UniProt and OMIM identifiers. About 11,600 entities; 6,700 have prevalence data, 4,200 have genes. Orphadata releases twice a year; every answer carries its data version, Orphadata's citation and its AI-use notice. ## 2. Minimal request Call `POST https://api.firecrawl.dev/v2/scrape` with `{ alexandria: { provider, capability, options } }`. For a batch, send `{ alexandria: [...] }` with up to 10 calls. ```json { "provider": "orphadata-com", "capability": "rare-diseases/epidemiology", "options": { "disease": "cystic fibrosis", "geography": [ "Europe", "FR" ] } } ``` ## 3. Add provider options Use only the options needed for the task: - `disease` (string, required): The disease: a name or synonym ("cystic fibrosis", "Pompe disease"; must match a preferred name or synonym, with or without a trailing disease/syndrome/disorder), an ORPHAcode ("ORPHA:586" or "586"), an orpha.net disease page URL, an OMIM number ("OMIM:219700") or an ICD-10 or ICD-11 code ("E84", "CA25"). A name matching several diseases, or a code mapped to several equally closely, is refused with the ORPHAcodes to choose from; call search first when unsure. Example: `` - `geography` (string[]): Keep records for these areas: ISO 3166 country codes ("FR", "US", "GB") or Orphanet area names ("Worldwide", "Europe", "North America", "Latin America", "Africa", "Oceania", "South East Asia", "Western Asia", "Eastern Mediterranean Asia", "Specific population", or a country name). "USA", "UK", "EU" and "world" are understood. A region record does not stand in for its countries. Example: `[]` - `types` (string[]): Keep only these record types. Example: `[]` - `validated_only` (boolean): Keep only records Orphanet has validated. Example: `false` ## 4. Request through your preferred interface ### JavaScript ```javascript const result = await firecrawl.scrape({ alexandria: { provider: "orphadata-com", capability: "rare-diseases/epidemiology", options: { disease: "cystic fibrosis", geography: [ "Europe", "FR", ], }, }, }); ``` ### Python ```python result = firecrawl.scrape_alexandria({ "provider": "orphadata-com", "capability": "rare-diseases/epidemiology", "options": { "disease": "cystic fibrosis", "geography": [ "Europe", "FR" ] } }) ``` ### cURL ```sh curl https://api.firecrawl.dev/v2/scrape \ -H "Authorization: Bearer $FIRECRAWL_API_KEY" \ -H "Content-Type: application/json" \ -d '{ "alexandria": { "provider": "orphadata-com", "capability": "rare-diseases/epidemiology", "options": { "disease": "cystic fibrosis", "geography": [ "Europe", "FR" ] } } }' ``` ### CLI ```sh firecrawl scrape 'orphadata-com/rare-diseases/epidemiology' \ --options '{"disease":"cystic fibrosis","geography":["Europe","FR"]}' ``` ### MCP Call the FCX MCP retrieve tool with this object: ```json { "provider": "orphadata-com", "capability": "rare-diseases/epidemiology", "options": { "disease": "cystic fibrosis", "geography": [ "Europe", "FR" ] } } ``` Ask for only the returned fields needed by the task. ## 5. Full request shape ```json { "provider": "orphadata-com", "capability": "rare-diseases/epidemiology", "options": { "disease": "cystic fibrosis", "geography": [ "Europe", "FR" ] } } ``` ## 6. Response data The response includes `success`, `provider`, `capability`, `creditsCost` and `data`. This example shows the provider payload in `data`: ```json { "age_of_onset": [ "All ages" ], "available_geographies": [ "Europe", "Austria", "Belgium", "Brazil", "Bulgaria", "China", "Cyprus", "Czech Republic", "Denmark", "Estonia", "Finland", "France", "Germany", "Greece", "Hungary", "Ireland", "Italy", "Latvia", "Lithuania", "Luxembourg", "Malta", "Netherlands", "Norway", "Poland", "Portugal", "Romania", "Russian Federation", "Slovakia", "Slovenia", "Spain", "Sweden", "United Kingdom" ], "disease": { "level": "disorder", "name": "Cystic fibrosis", "orphacode": 586, "source_url": "https://www.orpha.net/en/disease/detail/586", "type": "Disease" }, "inheritance": [ "Autosomal recessive" ], "license": { "ai_notice": "Orphanet/Orphadata data was used to produce this result. A result based on it may not be a true reflection of the Orphanet/Orphadata data, and Orphanet is not responsible for the quality of outputs based on its data.", "attribution": "Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://sciences.orphadata.com/. Data version 2026-06-23.", "changes": "Restructured by Firecrawl: English field names, parsed mapping relations, prevalence values and sources, and ISO 3166 country codes. Values are as Orphanet publishes them.", "name": "CC BY 4.0", "url": "https://creativecommons.org/licenses/by/4.0/" }, "matched_on": "name", "observed_at_ms": 1793382787373, "record_count": 4, "records": [ { "class": "1-5 / 10 000", "count": null, "country_code": null, "expert_opinion": false, "geography": "Europe", "orphanet_estimate": true, "other_sources": [], "per_100k": 11.1319, "pmids": [], "qualification": "value_and_class", "type": "point_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": "FR", "expert_opinion": false, "geography": "France", "orphanet_estimate": true, "other_sources": [], "per_100k": 12.1416, "pmids": [ "25122143" ], "qualification": "value_and_class", "type": "point_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": null, "expert_opinion": false, "geography": "Europe", "orphanet_estimate": true, "other_sources": [], "per_100k": 19.3912, "pmids": [], "qualification": "value_and_class", "type": "birth_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": "FR", "expert_opinion": false, "geography": "France", "orphanet_estimate": false, "other_sources": [], "per_100k": 21.15, "pmids": [ "25122143" ], "qualification": "value_and_class", "type": "birth_prevalence", "validated": true } ], "source_updated_at": "2026-06-23", "source_url": "https://www.orpha.net/en/disease/detail/586", "total_records": 62 } ``` ## API reference-derived contract The following capability contract is generated from the same normalized Alexandria API reference exposed in the API spec. ### Epidemiology - Capability: `rare-diseases/epidemiology` - Description: Orphanet's epidemiology for one rare disease: every prevalence, birth prevalence, lifetime prevalence, annual incidence and case-count record by area (worldwide, regions, countries), each with Orphanet's prevalence class, the mean value per 100,000 when published, validation status, and its sources as PubMed IDs, Orphanet estimates, expert opinion or registries; plus modes of inheritance and age of onset. Filter by area (ISO country codes or Orphanet region names), record type and validation. - Instructions: Prevalence or incidence of a rare disease, in a country or region, with citable sources. Takes a disease name, ORPHAcode, orpha.net URL, OMIM or ICD code. Coverage is strongest for Europe; available_geographies lists every area a disease has records for. A disease without records answers with an empty records list (a group of disorders whose subtypes hold the records warns with their ORPHAcodes); an unknown disease is not_found; an obsolete or deprecated ORPHAcode is refused with the ORPHAcode Orphanet moved it to. - Cost: 5 credits per call - Capability file: [Epidemiology](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/epidemiology) Accepted options: - `disease` (string, required): The disease: a name or synonym ("cystic fibrosis", "Pompe disease"; must match a preferred name or synonym, with or without a trailing disease/syndrome/disorder), an ORPHAcode ("ORPHA:586" or "586"), an orpha.net disease page URL, an OMIM number ("OMIM:219700") or an ICD-10 or ICD-11 code ("E84", "CA25"). A name matching several diseases, or a code mapped to several equally closely, is refused with the ORPHAcodes to choose from; call search first when unsure. Example: `` - `geography` (string[]): Keep records for these areas: ISO 3166 country codes ("FR", "US", "GB") or Orphanet area names ("Worldwide", "Europe", "North America", "Latin America", "Africa", "Oceania", "South East Asia", "Western Asia", "Eastern Mediterranean Asia", "Specific population", or a country name). "USA", "UK", "EU" and "world" are understood. A region record does not stand in for its countries. Example: `[]` - `types` (string[]): Keep only these record types. Example: `[]` - `validated_only` (boolean): Keep only records Orphanet has validated. Example: `false` Response schema example: ```json { "age_of_onset": [ "All ages" ], "available_geographies": [ "Europe", "Austria", "Belgium", "Brazil", "Bulgaria", "China", "Cyprus", "Czech Republic", "Denmark", "Estonia", "Finland", "France", "Germany", "Greece", "Hungary", "Ireland", "Italy", "Latvia", "Lithuania", "Luxembourg", "Malta", "Netherlands", "Norway", "Poland", "Portugal", "Romania", "Russian Federation", "Slovakia", "Slovenia", "Spain", "Sweden", "United Kingdom" ], "disease": { "level": "disorder", "name": "Cystic fibrosis", "orphacode": 586, "source_url": "https://www.orpha.net/en/disease/detail/586", "type": "Disease" }, "inheritance": [ "Autosomal recessive" ], "license": { "ai_notice": "Orphanet/Orphadata data was used to produce this result. A result based on it may not be a true reflection of the Orphanet/Orphadata data, and Orphanet is not responsible for the quality of outputs based on its data.", "attribution": "Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://sciences.orphadata.com/. Data version 2026-06-23.", "changes": "Restructured by Firecrawl: English field names, parsed mapping relations, prevalence values and sources, and ISO 3166 country codes. Values are as Orphanet publishes them.", "name": "CC BY 4.0", "url": "https://creativecommons.org/licenses/by/4.0/" }, "matched_on": "name", "observed_at_ms": 1793382787373, "record_count": 4, "records": [ { "class": "1-5 / 10 000", "count": null, "country_code": null, "expert_opinion": false, "geography": "Europe", "orphanet_estimate": true, "other_sources": [], "per_100k": 11.1319, "pmids": [], "qualification": "value_and_class", "type": "point_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": "FR", "expert_opinion": false, "geography": "France", "orphanet_estimate": true, "other_sources": [], "per_100k": 12.1416, "pmids": [ "25122143" ], "qualification": "value_and_class", "type": "point_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": null, "expert_opinion": false, "geography": "Europe", "orphanet_estimate": true, "other_sources": [], "per_100k": 19.3912, "pmids": [], "qualification": "value_and_class", "type": "birth_prevalence", "validated": true }, { "class": "1-5 / 10 000", "count": null, "country_code": "FR", "expert_opinion": false, "geography": "France", "orphanet_estimate": false, "other_sources": [], "per_100k": 21.15, "pmids": [ "25122143" ], "qualification": "value_and_class", "type": "birth_prevalence", "validated": true } ], "source_updated_at": "2026-06-23", "source_url": "https://www.orpha.net/en/disease/detail/586", "total_records": 62 } ``` ### Genes - Capability: `rare-diseases/genes` - Description: Genes Orphanet associates with one rare disease: symbol, name, type and locus; the association (disease-causing germline or somatic mutation, loss or gain of function, susceptibility factor, fusion gene, phenotype modifier, candidate or biomarker) and whether it was assessed; HGNC, Ensembl, UniProt and OMIM gene identifiers; and the PubMed IDs behind it. When a disorder has no genes of its own, the genes of its subtypes, each naming the subtype. - Instructions: Which genes cause or modify a rare disease, with identifiers to join to gene and protein databases. Takes a disease name, ORPHAcode, orpha.net URL, OMIM or ICD code. Diseases without known genes (infections, many acquired conditions) answer with an empty list; groups of disorders are not expanded, so query a specific disorder. - Cost: 5 credits per call - Capability file: [Genes](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/genes) Accepted options: - `disease` (string, required): The disease: a name or synonym ("cystic fibrosis", "Pompe disease"; must match a preferred name or synonym, with or without a trailing disease/syndrome/disorder), an ORPHAcode ("ORPHA:586" or "586"), an orpha.net disease page URL, an OMIM number ("OMIM:219700") or an ICD-10 or ICD-11 code ("E84", "CA25"). A name matching several diseases, or a code mapped to several equally closely, is refused with the ORPHAcodes to choose from; call search first when unsure. Example: `` Response schema example: ```json { "disease": { "level": "disorder", "name": "Marfan syndrome", "orphacode": 558, "source_url": "https://www.orpha.net/en/disease/detail/558", "type": "Disease" }, "from_subtypes": true, "gene_count": 3, "genes": [ { "association": "Disease-causing germline mutation(s)", "association_status": "Assessed", "ensembl_gene_id": "ENSG00000166147", "gene_type": "gene with protein product", "hgnc_id": "HGNC:3603", "loci": [ "15q21.1" ], "name": "fibrillin 1", "omim": "134797", "pmids": [], "symbol": "FBN1", "uniprot_accession": "P35555", "via": { "name": "Marfan syndrome type 1", "orphacode": 284963 } }, { "association": "Disease-causing germline mutation(s)", "association_status": "Assessed", "ensembl_gene_id": "ENSG00000106799", "gene_type": "gene with protein product", "hgnc_id": "HGNC:11772", "loci": [ "9q22.33" ], "name": "transforming growth factor beta receptor 1", "omim": "190181", "pmids": [ "16799921", "18781618" ], "symbol": "TGFBR1", "uniprot_accession": "P36897", "via": { "name": "Marfan syndrome type 2", "orphacode": 284973 } }, { "association": "Disease-causing germline mutation(s)", "association_status": "Assessed", "ensembl_gene_id": "ENSG00000163513", "gene_type": "gene with protein product", "hgnc_id": "HGNC:11773", "loci": [ "3p24.1" ], "name": "transforming growth factor beta receptor 2", "omim": "190182", "pmids": [], "symbol": "TGFBR2", "uniprot_accession": "P37173", "via": { "name": "Marfan syndrome type 2", "orphacode": 284973 } } ], "license": { "ai_notice": "Orphanet/Orphadata data was used to produce this result. A result based on it may not be a true reflection of the Orphanet/Orphadata data, and Orphanet is not responsible for the quality of outputs based on its data.", "attribution": "Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://sciences.orphadata.com/. Data version 2026-06-23.", "changes": "Restructured by Firecrawl: English field names, parsed mapping relations, prevalence values and sources, and ISO 3166 country codes. Values are as Orphanet publishes them.", "name": "CC BY 4.0", "url": "https://creativecommons.org/licenses/by/4.0/" }, "matched_on": "name", "observed_at_ms": 1793382787440, "source_updated_at": "2026-06-23", "source_url": "https://www.orpha.net/en/disease/detail/558" } ``` ### Search - Capability: `rare-diseases/search` - Description: Find rare diseases in Orphanet by name, synonym or abbreviation, ORPHAcode, orpha.net page URL, OMIM number, or ICD-10 / ICD-11 code. Returns each disease's ORPHAcode, preferred name, status (inactive entities say where Orphanet moved them), level and type, definition, synonyms, and its mappings to ICD-10, ICD-11, OMIM, MONDO, MeSH, UMLS, MedDRA and GARD, each with how closely it maps. Name searches match preferred names and synonyms word by word, best match first, and fall back to Orphanet's approximate search for misspellings. - Instructions: Identify a rare disease and its codes, translate between ORPHAcode, OMIM, ICD-10, ICD-11 and MONDO, or find the ORPHAcode to pass to epidemiology or genes. Unknown names and codes return an empty list. MONDO, UMLS and MeSH IDs cannot be searched; search by name and read cross_references. - Cost: 5 credits per call - Capability file: [Search](https://firecrawl.dev/alexandria/agents/providers/orphadata-com/rare-diseases/search) Accepted options: - `limit` (number): Results per page. Example: `10` - `offset` (number): Results to skip. Example: `0` - `query` (string, required): A disease name, synonym or abbreviation ("cystic fibrosis", "Pompe disease", "ALS"), an ORPHAcode ("ORPHA:586" or "586"), an orpha.net disease page URL, an OMIM number ("OMIM:219700"), or an ICD-10 ("E84", "ICD-10:Q87.4") or ICD-11 code ("CA25"). Example: `` Response schema example: ```json { "license": { "ai_notice": "Orphanet/Orphadata data was used to produce this result. A result based on it may not be a true reflection of the Orphanet/Orphadata data, and Orphanet is not responsible for the quality of outputs based on its data.", "attribution": "Orphadata Science: Free access data from Orphanet. © INSERM 1999. Available on https://sciences.orphadata.com/. Data version 2026-06-23.", "changes": "Restructured by Firecrawl: English field names, parsed mapping relations, prevalence values and sources, and ISO 3166 country codes. Values are as Orphanet publishes them.", "name": "CC BY 4.0", "url": "https://creativecommons.org/licenses/by/4.0/" }, "next_offset": null, "observed_at_ms": 1793382787184, "offset": 0, "query": "cystic fibrosis", "query_type": "text", "results": [ { "cross_references": { "gard": [ { "code": "6233", "mapping": "exact", "validated": true } ], "icd10": [ { "code": "E84", "icd_relation": "specific_code", "mapping": "exact", "validated": true }, { "code": "E84.0", "icd_relation": "specific_code", "mapping": "broader", "validated": true }, { "code": "E84.1", "icd_relation": "specific_code", "mapping": "broader", "validated": true }, { "code": "E84.8", "icd_relation": "specific_code", "mapping": "broader", "validated": true } ], "icd11": [ { "code": "CA25", "icd_relation": "specific_code", "mapping": "exact", "url": "https://icd.who.int/browse/latest-release/mms/en#514403112", "validated": true } ], "meddra": [ { "code": "10011762", "mapping": "exact", "validated": true } ], "mesh": [ { "code": "D003550", "mapping": "exact", "validated": true } ], "mondo": [ { "code": "MONDO:0009061", "mapping": "exact", "validated": true } ], "omim": [ { "code": "219700", "mapping": "exact", "validated": true } ], "umls": [ { "code": "C0010674", "mapping": "exact", "validated": true } ] }, "definition": "A rare, genetic pulmonary disorder characterized by sweat, thick mucus secretions causing multisystem disease, chronic infections of the lungs, bulky diarrhea and short stature.", "inactive_reason": null, "level": "disorder", "matched_on": "name", "name": "Cystic fibrosis", "orphacode": 586, "replaced_by": [], "source_url": "https://www.orpha.net/en/disease/detail/586", "status": "active", "synonyms": [ "CF", "Mucoviscidosis" ], "type": "Disease" }, { "cross_references": { "gard": [ { "code": "3303", "mapping": "exact", "validated": true } ], "icd10": [ { "code": "E84.8", "icd_relation": "attributed_code", "mapping": "narrower", "validated": true } ], "icd11": [ { "code": "CA25.1", "icd_relation": "attributed_code", "mapping": "narrower", "url": "https://icd.who.int/browse/latest-release/mms/en#955958081", "validated": true } ], "meddra": [], "mesh": [ { "code": "C537039", "mapping": "exact", "validated": true } ], "mondo": [ { "code": "MONDO:0009062", "mapping": "exact", "validated": true } ], "omim": [ { "code": "219721", "mapping": "exact", "validated": true } ], "umls": [ { "code": "C2931402", "mapping": "exact", "validated": true } ] }, "definition": "A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.", "inactive_reason": null, "level": "disorder", "matched_on": "name", "name": "Cystic fibrosis-gastritis-megaloblastic anemia syndrome", "orphacode": 2575, "replaced_by": [], "source_url": "https://www.orpha.net/en/disease/detail/2575", "status": "active", "synonyms": [ "Lubani-Al Saleh-Teebi syndrome" ], "type": "Disease" }, { "cross_references": { "gard": [], "icd10": [], "icd11": [], "meddra": [], "mesh": [], "mondo": [], "omim": [], "umls": [] }, "definition": null, "inactive_reason": "obsolete", "level": "disorder", "matched_on": "name", "name": "OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome", "orphacode": 2112, "replaced_by": [ { "name": "Rare pulmonary disease", "orphacode": 101944, "relation": "referred_to" } ], "source_url": "https://www.orpha.net/en/disease/detail/2112", "status": "inactive", "synonyms": [], "type": "Malformation syndrome" } ], "source_updated_at": "2026-06-23", "total": 3 } ```