{ "disease_id": "DOID:0111158", "recommended_name": { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16." }, "synonyms": [ { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "SADDAN dysplasia", "description": "" }, { "id": "DOID:0111158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia-developmental delay-acanthosis nigricans syndrome", "description": "A syndrome characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3)." }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "SADDAN dysplasia", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "severe achondroplasia with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MONDO:0014658", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "name": "achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "" }, { "id": "MIM:616482", "resource": "MIM", "url": "https://www.omim.org/entry/616482", "name": "Achondroplasia, severe, with developmental delay and acanthosis nigricans", "description": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" } ], "children": [], "id_list": [ "DOID:0111158" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111158", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111158", "categories": [] }, { "id": "MONDO:0014658", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014658", "categories": [] }, { "id": "MIM:616482", "database": "MIM", "url": "https://www.omim.org/entry/616482", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q07407-1", "uniprot_ac": "Q07407", "uniprot_id": "FGFR1_DROME", "refseq_ac": "NP_524394", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor homolog 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG7223-PB; htl-PB; fibroblast growth factor receptor; FGF receptor; heartless; fibroblast growth factor receptor 1", "resource": "RefSeq", "type": "synonym" }, { "name": "DmHD-38", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein heartless", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tyrosine kinase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "dTk1", "resource": "UniProtKB", "type": "synonym" }, { "name": "heartless, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "htl", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG7223; CT22273; CT39172; DFGF-R1; DFGF-R2; Dfr-1; DFR-1; Dfr1; DFR1; DFR1/DFGF-R2; Dmel\\CG7223; DmHD-38; DPR3; dtk1; Dtk1; DTRK(FR1); EMS2; FGF-R2; FGFR; FGFR2; Fr1; FR1; HD-38; Htl; HTL/FGFR1; i100; i150; i79; j372; Tk1", "resource": "RefSeq", "type": "synonym" }, { "name": "CG7223", "resource": "UniProtKB", "type": "synonym" }, { "name": "FR1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tk1", "resource": "UniProtKB", "type": "synonym" }, { "name": "htl", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "uniprot_canonical_ac": "Q09147-1", "uniprot_ac": "Q09147", "uniprot_id": "FGFR2_DROME", "refseq_ac": "NP_001014583", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor homolog 2", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG32134-PB; btl-PB; Fibroblast-growth-factor-receptor; devenir; no terminal cell clones-L; lethal (3) j2E11; fibroblast growth factor receptor; FGFR; fibrobast growth factor receptor; breathless; FGF receptor; fibroblast growth factor receptor 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Protein breathless", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tyrosine kinase 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tyrosine kinase receptor HD-311", "resource": "UniProtKB", "type": "synonym" }, { "name": "breathless, isoform B", "resource": "RefSeq", "type": "synonym" }, { "name": "dFGF-R1", "resource": "UniProtKB", "type": "synonym" }, { "name": "dTk2", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "btl", "resource": "UniProtKB", "type": "recommended" }, { "name": "0844/01; Btl; BTL; BTL/FGFR2; CG32134; CG6714; CT20816; D-FGFR; dev; DFGF-R1; dFGFR; Dfr-2; DFR2; Dmel\\CG32134; DmHD-311; dtk2; Dtk2; fgf-r; Fgf-r; Fgfr; FGFR; FGFR1; HD-311; l(3)00208; l(3)j2E11; Tk2", "resource": "RefSeq", "type": "synonym" }, { "name": "CG32134", "resource": "UniProtKB", "type": "synonym" }, { "name": "FR2", "resource": "UniProtKB", "type": "synonym" }, { "name": "HD-311", "resource": "UniProtKB", "type": "synonym" }, { "name": "Tk2", "resource": "UniProtKB", "type": "synonym" }, { "name": "btl", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "uniprot_canonical_ac": "Q61851-1", "uniprot_ac": "Q61851", "uniprot_id": "FGFR3_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR-3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Heparin-binding growth factor receptor", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Fgfr3", "resource": "UniProtKB", "type": "recommended" }, { "name": "FR3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mfr3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Sam3", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "uniprot_canonical_ac": "P22607-1", "uniprot_ac": "P22607", "uniprot_id": "FGFR3_HUMAN", "refseq_ac": "NP_000133", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR-3", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor receptor 3 isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "hydroxyaryl-protein kinase; tyrosine kinase JTK4; FGFR-3; fibroblast growth factor receptor 3-S", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "FGFR3", "resource": "UniProtKB", "type": "recommended" }, { "name": "ACH; CD333; CEK2; HSFGFR3EX; JTK4", "resource": "RefSeq", "type": "synonym" }, { "name": "FGFR3", "resource": "RefSeq", "type": "synonym" }, { "name": "JTK4", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" }, { "id": "616482", "database": "MIM", "url": "https://www.omim.org/entry/616482" } ] }, { "uniprot_canonical_ac": "Q9I8X3-1", "uniprot_ac": "Q9I8X3", "uniprot_id": "FGFR3_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor 3", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "FGFR-3", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "fgfr3", "resource": "UniProtKB", "type": "recommended" }, { "name": "fc27h01", "resource": "UniProtKB", "type": "synonym" }, { "name": "sb:eu563", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fc27h01", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "uniprot_canonical_ac": "F1LSN4-1", "uniprot_ac": "F1LSN4", "uniprot_id": "F1LSN4_RAT", "refseq_ac": "XP_006251457", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor receptor", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.7.10.1", "resource": "UniProtKB", "type": "synonym" }, { "name": "fibroblast growth factor receptor 3 isoform X3", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Fgfr3", "resource": "UniProtKB", "type": "recommended" }, { "name": "Fgfr3", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] }, { "uniprot_canonical_ac": "P53987-1", "uniprot_ac": "P53987", "uniprot_id": "MOT1_RAT", "refseq_ac": "NP_036848", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Monocarboxylate transporter 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "MCT 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Solute carrier family 16 member 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "monocarboxylate transporter 1", "resource": "RefSeq", "type": "synonym" }, { "name": "solute carrier 16 (monocarboxylic acid transporter), member 1; MCT 1; solute carrier family 16, member 1 (monocarboxylic acid transporter 1); solute carrier family 16 (monocarboxylic acid transporters), member 1; solute carrier family 16 (monocarboxylate transporter), member 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Slc16a1", "resource": "UniProtKB", "type": "recommended" }, { "name": "MCT1; RATMCT1; RNMCT1", "resource": "RefSeq", "type": "synonym" }, { "name": "Mct1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Slc16a1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0111158", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0111158" }