Target Gene/Pathway Pathway / Gene

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No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Adherens junction 💬	[1] FGFR1 💬 Adherens junction × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Adherens junction × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 1. Adherens junction × Disease ID Name 276 Achondroplasia;
2	Adherens junction 💬	[1] FGFR1 💬 Adherens junction × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Adherens junction × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 1. Adherens junction × Disease ID Name 276 Achondroplasia;
3	Bladder cancer 💬	[1] FGFR3 💬 Bladder cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Bladder cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 3. Bladder cancer × Disease ID Name 276 Achondroplasia;
4	Bladder cancer 💬	[1] FGFR3 💬 Bladder cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Bladder cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 3. Bladder cancer × Disease ID Name 276 Achondroplasia;
5	Bladder cancer 💬	[1] FGFR3 💬 Bladder cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Bladder cancer × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 5. Bladder cancer × Disease ID Name 276 Achondroplasia;
6	Breast cancer 💬	[1] FGFR1 💬 Breast cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Breast cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 6. Breast cancer × Disease ID Name 276 Achondroplasia;
7	Breast cancer 💬	[1] FGFR1 💬 Breast cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Breast cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 6. Breast cancer × Disease ID Name 276 Achondroplasia;
8	Calcium signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Calcium signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Calcium signaling pathway × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 8. Calcium signaling pathway × Disease ID Name 276 Achondroplasia;
9	Calcium signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Calcium signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Calcium signaling pathway × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 8. Calcium signaling pathway × Disease ID Name 276 Achondroplasia;
10	Calcium signaling pathway 💬	[1] FGFR3 💬 Calcium signaling pathway × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Calcium signaling pathway × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 10. Calcium signaling pathway × Disease ID Name 276 Achondroplasia;
11	Central carbon metabolism in cancer 💬	[3] FGFR1, FGFR2, FGFR3 💬 Central carbon metabolism in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Central carbon metabolism in cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 11. Central carbon metabolism in cancer × Disease ID Name 276 Achondroplasia;
12	Central carbon metabolism in cancer 💬	[3] FGFR1, FGFR2, FGFR3 💬 Central carbon metabolism in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Central carbon metabolism in cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 11. Central carbon metabolism in cancer × Disease ID Name 276 Achondroplasia;
13	Central carbon metabolism in cancer 💬	[1] FGFR3 💬 Central carbon metabolism in cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Central carbon metabolism in cancer × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 13. Central carbon metabolism in cancer × Disease ID Name 276 Achondroplasia;
14	cGMP-PKG signaling pathway 💬	[1] NPR2 💬 cGMP-PKG signaling pathway × Name Full Name NPR2 natriuretic peptide receptor 2	Vosoritide 💬 cGMP-PKG signaling pathway × Name Other Names Vosoritide Vosoritide (USAN/INN) Vosoritide (genetical recombination) (JAN) Voxzogo (TN) VOSORITIDE	Vosoritide	[3] 19, 195, 276 💬 14. cGMP-PKG signaling pathway × Disease ID Name 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 195 Noonan syndrome; 276 Achondroplasia;
15	Cytokine-cytokine receptor interaction 💬	[1] GHR 💬 Cytokine-cytokine receptor interaction × Name Full Name GHR growth hormone receptor	Somatropin 💬 Cytokine-cytokine receptor interaction × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 15. Cytokine-cytokine receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
16	Endocytosis 💬	[2] FGFR2, FGFR3 💬 Endocytosis × Name Full Name FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Endocytosis × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 16. Endocytosis × Disease ID Name 276 Achondroplasia;
17	Endocytosis 💬	[2] FGFR2, FGFR3 💬 Endocytosis × Name Full Name FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Endocytosis × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 16. Endocytosis × Disease ID Name 276 Achondroplasia;
18	Endocytosis 💬	[1] FGFR3 💬 Endocytosis × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Endocytosis × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 18. Endocytosis × Disease ID Name 276 Achondroplasia;
19	Gastric cancer 💬	[1] FGFR2 💬 Gastric cancer × Name Full Name FGFR2 fibroblast growth factor receptor 2	Infigratinib 💬 Gastric cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 19. Gastric cancer × Disease ID Name 276 Achondroplasia;
20	Gastric cancer 💬	[1] FGFR2 💬 Gastric cancer × Name Full Name FGFR2 fibroblast growth factor receptor 2	Infigratinib phosphate 💬 Gastric cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 19. Gastric cancer × Disease ID Name 276 Achondroplasia;
21	Growth hormone synthesis, secretion and action 💬	[1] GHR 💬 Growth hormone synthesis, secretion and action × Name Full Name GHR growth hormone receptor	Somatropin 💬 Growth hormone synthesis, secretion and action × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 21. Growth hormone synthesis, secretion and action × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
22	Hormone signaling 💬	[1] GHR 💬 Hormone signaling × Name Full Name GHR growth hormone receptor	Somatropin 💬 Hormone signaling × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 22. Hormone signaling × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
23	Hormone signaling 💬	[1] NPR2 💬 Hormone signaling × Name Full Name NPR2 natriuretic peptide receptor 2	Vosoritide 💬 Hormone signaling × Name Other Names Vosoritide Vosoritide (USAN/INN) Vosoritide (genetical recombination) (JAN) Voxzogo (TN) VOSORITIDE	Vosoritide	[3] 19, 195, 276 💬 23. Hormone signaling × Disease ID Name 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 195 Noonan syndrome; 276 Achondroplasia;
24	JAK-STAT signaling pathway 💬	[1] GHR 💬 JAK-STAT signaling pathway × Name Full Name GHR growth hormone receptor	Somatropin 💬 JAK-STAT signaling pathway × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 24. JAK-STAT signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
25	MAPK signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 MAPK signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 MAPK signaling pathway × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 25. MAPK signaling pathway × Disease ID Name 276 Achondroplasia;
26	MAPK signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 MAPK signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 MAPK signaling pathway × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 25. MAPK signaling pathway × Disease ID Name 276 Achondroplasia;
27	MAPK signaling pathway 💬	[1] FGFR3 💬 MAPK signaling pathway × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 MAPK signaling pathway × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 27. MAPK signaling pathway × Disease ID Name 276 Achondroplasia;
28	Melanoma 💬	[1] FGFR1 💬 Melanoma × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Melanoma × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 28. Melanoma × Disease ID Name 276 Achondroplasia;
29	Melanoma 💬	[1] FGFR1 💬 Melanoma × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Melanoma × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 28. Melanoma × Disease ID Name 276 Achondroplasia;
30	MicroRNAs in cancer 💬	[1] FGFR3 💬 MicroRNAs in cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 MicroRNAs in cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 30. MicroRNAs in cancer × Disease ID Name 276 Achondroplasia;
31	MicroRNAs in cancer 💬	[1] FGFR3 💬 MicroRNAs in cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 MicroRNAs in cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 30. MicroRNAs in cancer × Disease ID Name 276 Achondroplasia;
32	MicroRNAs in cancer 💬	[1] FGFR3 💬 MicroRNAs in cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 MicroRNAs in cancer × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 32. MicroRNAs in cancer × Disease ID Name 276 Achondroplasia;
33	Neuroactive ligand-receptor interaction 💬	[1] GHR 💬 Neuroactive ligand-receptor interaction × Name Full Name GHR growth hormone receptor	Somatropin 💬 Neuroactive ligand-receptor interaction × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 33. Neuroactive ligand-receptor interaction × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
34	Oxytocin signaling pathway 💬	[1] NPR2 💬 Oxytocin signaling pathway × Name Full Name NPR2 natriuretic peptide receptor 2	Vosoritide 💬 Oxytocin signaling pathway × Name Other Names Vosoritide Vosoritide (USAN/INN) Vosoritide (genetical recombination) (JAN) Voxzogo (TN) VOSORITIDE	Vosoritide	[3] 19, 195, 276 💬 34. Oxytocin signaling pathway × Disease ID Name 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 195 Noonan syndrome; 276 Achondroplasia;
35	Parathyroid hormone synthesis, secretion and action 💬	[1] FGFR1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 35. Parathyroid hormone synthesis, secretion and action × Disease ID Name 276 Achondroplasia;
36	Parathyroid hormone synthesis, secretion and action 💬	[1] FGFR1 💬 Parathyroid hormone synthesis, secretion and action × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Parathyroid hormone synthesis, secretion and action × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 35. Parathyroid hormone synthesis, secretion and action × Disease ID Name 276 Achondroplasia;
37	Pathways in cancer 💬	[3] FGFR1, FGFR2, FGFR3 💬 Pathways in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Pathways in cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 37. Pathways in cancer × Disease ID Name 276 Achondroplasia;
38	Pathways in cancer 💬	[3] FGFR1, FGFR2, FGFR3 💬 Pathways in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Pathways in cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 37. Pathways in cancer × Disease ID Name 276 Achondroplasia;
39	Pathways in cancer 💬	[1] FGFR3 💬 Pathways in cancer × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Pathways in cancer × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 39. Pathways in cancer × Disease ID Name 276 Achondroplasia;
40	PI3K-Akt signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 PI3K-Akt signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 PI3K-Akt signaling pathway × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 40. PI3K-Akt signaling pathway × Disease ID Name 276 Achondroplasia;
41	PI3K-Akt signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 PI3K-Akt signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 PI3K-Akt signaling pathway × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 40. PI3K-Akt signaling pathway × Disease ID Name 276 Achondroplasia;
42	PI3K-Akt signaling pathway 💬	[1] FGFR3 💬 PI3K-Akt signaling pathway × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 PI3K-Akt signaling pathway × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 42. PI3K-Akt signaling pathway × Disease ID Name 276 Achondroplasia;
43	PI3K-Akt signaling pathway 💬	[1] GHR 💬 PI3K-Akt signaling pathway × Name Full Name GHR growth hormone receptor	Somatropin 💬 PI3K-Akt signaling pathway × Name Other Names Somatropin Somatropin (USP/INN) Somatropin (genetical recombination) (JAN) Human growth hormone (JAN) Asellacrin (TN) Humatrope (TN) Nutropin (TN) Omnitrope (TN) GENOTROPIN HUMATROPE NORDITROPIN OMNITROPE SEROSTIM SOMATROPIN ZOMACTON	Somatotropin	[28]  2 ,  3 , 13, 19, 36, 46, 65, 74, 75, 76, 77, 78, 96, 97, 107, 113, 156, 187, 191, 193, 195, 238, 246, 265, 274, 276, 299, 337 💬 43. PI3K-Akt signaling pathway × Disease ID Name  2  Amyotrophic lateral sclerosis;ALS;  3  Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease; 13 Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis; 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 36 Epidermolysis bullosa;Kindler syndrome; 46 Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3; 74 Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma; 75 Cushing disease;Cushing syndrome; 76 Pituitary gonadotropin secretion hyperthyroidism;Gonadotropin secreting pituitary adenoma;Central precocious puberty;Gonadotropin producing pituitary adenoma; 77 Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;Acromegaly; 78 Hypopituitarism;Anterior pituitary hypothyroidism; 96 Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD; 97 Ulcerative colitis;UC;Inflammatory bowel disease;IBD; 107 Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA; 113 Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;Muscle-eye-brain disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy; 156 Rett syndrome; 187 Kabuki syndrome; 191 Werner syndrome; 193 Prader-Willi syndrome; 195 Noonan syndrome; 238 Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO; 246 Methylmalonic acidemia;MMA; 265 Lipodystrophy; 274 Osteogenesis Imperfecta; 276 Achondroplasia; 299 Cystic fibrosis;CF; 337 Homocystinuria;Homocystinuria type I;Cystathionine beta-synthase deficiency;CBS deficiency;Homocystinuria type II;Homocystinuria cblC type;Cobalamin C deficiency;cblC deficiency;Homocystinuria type III;Methylenetetrahydrofolate reductase deficiency;MTHFR deficiency;
44	Prostate cancer 💬	[2] FGFR1, FGFR2 💬 Prostate cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2	Infigratinib 💬 Prostate cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 44. Prostate cancer × Disease ID Name 276 Achondroplasia;
45	Prostate cancer 💬	[2] FGFR1, FGFR2 💬 Prostate cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2	Infigratinib phosphate 💬 Prostate cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 44. Prostate cancer × Disease ID Name 276 Achondroplasia;
46	Proteoglycans in cancer 💬	[1] FGFR1 💬 Proteoglycans in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Proteoglycans in cancer × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 46. Proteoglycans in cancer × Disease ID Name 276 Achondroplasia;
47	Proteoglycans in cancer 💬	[1] FGFR1 💬 Proteoglycans in cancer × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Proteoglycans in cancer × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 46. Proteoglycans in cancer × Disease ID Name 276 Achondroplasia;
48	Purine metabolism 💬	[1] NPR2 💬 Purine metabolism × Name Full Name NPR2 natriuretic peptide receptor 2	Vosoritide 💬 Purine metabolism × Name Other Names Vosoritide Vosoritide (USAN/INN) Vosoritide (genetical recombination) (JAN) Voxzogo (TN) VOSORITIDE	Vosoritide	[3] 19, 195, 276 💬 48. Purine metabolism × Disease ID Name 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 195 Noonan syndrome; 276 Achondroplasia;
49	Rap1 signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Rap1 signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Rap1 signaling pathway × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 49. Rap1 signaling pathway × Disease ID Name 276 Achondroplasia;
50	Rap1 signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Rap1 signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Rap1 signaling pathway × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 49. Rap1 signaling pathway × Disease ID Name 276 Achondroplasia;
51	Rap1 signaling pathway 💬	[1] FGFR3 💬 Rap1 signaling pathway × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Rap1 signaling pathway × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 51. Rap1 signaling pathway × Disease ID Name 276 Achondroplasia;
52	Ras signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Ras signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Ras signaling pathway × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 52. Ras signaling pathway × Disease ID Name 276 Achondroplasia;
53	Ras signaling pathway 💬	[3] FGFR1, FGFR2, FGFR3 💬 Ras signaling pathway × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Ras signaling pathway × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 52. Ras signaling pathway × Disease ID Name 276 Achondroplasia;
54	Ras signaling pathway 💬	[1] FGFR3 💬 Ras signaling pathway × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Ras signaling pathway × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 54. Ras signaling pathway × Disease ID Name 276 Achondroplasia;
55	Regulation of actin cytoskeleton 💬	[3] FGFR1, FGFR2, FGFR3 💬 Regulation of actin cytoskeleton × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Regulation of actin cytoskeleton × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 55. Regulation of actin cytoskeleton × Disease ID Name 276 Achondroplasia;
56	Regulation of actin cytoskeleton 💬	[3] FGFR1, FGFR2, FGFR3 💬 Regulation of actin cytoskeleton × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Regulation of actin cytoskeleton × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 55. Regulation of actin cytoskeleton × Disease ID Name 276 Achondroplasia;
57	Regulation of actin cytoskeleton 💬	[1] FGFR3 💬 Regulation of actin cytoskeleton × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Regulation of actin cytoskeleton × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 57. Regulation of actin cytoskeleton × Disease ID Name 276 Achondroplasia;
58	Signaling pathways regulating pluripotency of stem cells 💬	[3] FGFR1, FGFR2, FGFR3 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 58. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 276 Achondroplasia;
59	Signaling pathways regulating pluripotency of stem cells 💬	[3] FGFR1, FGFR2, FGFR3 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name FGFR1 fibroblast growth factor receptor 1 FGFR2 fibroblast growth factor receptor 2 FGFR3 fibroblast growth factor receptor 3	Infigratinib phosphate 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 58. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 276 Achondroplasia;
60	Signaling pathways regulating pluripotency of stem cells 💬	[1] FGFR3 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name FGFR3 fibroblast growth factor receptor 3	Recifercept 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Recifercept Recifercept (USAN/INN)	Recifercept	[1] 276 💬 60. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 276 Achondroplasia;
61	Thermogenesis 💬	[1] FGFR1 💬 Thermogenesis × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib 💬 Thermogenesis × Name Other Names Infigratinib Infigratinib (USAN/INN)	Infigratinib	[1] 276 💬 61. Thermogenesis × Disease ID Name 276 Achondroplasia;
62	Thermogenesis 💬	[1] FGFR1 💬 Thermogenesis × Name Full Name FGFR1 fibroblast growth factor receptor 1	Infigratinib phosphate 💬 Thermogenesis × Name Other Names Infigratinib phosphate Infigratinib phosphate (USAN) Truseltiq (TN)	Infigratinib	[1] 276 💬 61. Thermogenesis × Disease ID Name 276 Achondroplasia;
63	Vascular smooth muscle contraction 💬	[1] NPR2 💬 Vascular smooth muscle contraction × Name Full Name NPR2 natriuretic peptide receptor 2	Vosoritide 💬 Vascular smooth muscle contraction × Name Other Names Vosoritide Vosoritide (USAN/INN) Vosoritide (genetical recombination) (JAN) Voxzogo (TN) VOSORITIDE	Vosoritide	[3] 19, 195, 276 💬 63. Vascular smooth muscle contraction × Disease ID Name 19 Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Kanzaki disease;Pompe disease;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Ceroid lipofuscinosis;Fabry disease;Cystinosis; 195 Noonan syndrome; 276 Achondroplasia;

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