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 salinomycin
C010327
 
  
  
  

MeSH Unique Identifier: C010327
Scope Notes: From Streptomyces albus
Chemical – Gene Interaction

Note 1: Salinomycin results in decreased expression of ACOT13 mRNA

Note 2: Salinomycin results in decreased expression of ACTG1 mRNA

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1. Human Genes 
1. Human Genes
 Ankyrin repeat domain containing [HGNC:ANKRD] (566) 
 notch 3 [HGNC:NOTCH3] (19)
 Ataxins [HGNC:ATXN] (46) 
 ataxin 03 [HGNC:ATXN3] (19)
 Basic helix-loop-helix [HGNC:BHLH] (618) 
 hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) [HGNC:HIF1A] (212)
 v-myc avian myelocytomatosis viral oncogene homolog [HGNC:MYC] (254)
 CD molecules [HGNC:CD] (1459) 
 fibroblast growth factor receptor 1 [HGNC:FGFR1] (43)
 insulin-like growth factor 2 receptor [HGNC:IGF2R] (23)
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 Chemokine ligands [HGNC:CCL] (472) 
 chemokine (C-C motif) ligand 02 [HGNC:CCL2] (337)
 Chloride channels [HGNC:CLCNS] (69) 
 Chloride intracellular channels [HGNC:CLIC] (39) 
 chloride intracellular channel 1 [HGNC:CLIC1] (21)
 DDB1 and CUL4 associated factors [HGNC:DCAF] (30) 
 DDB1 and CUL4 associated factor 07 [HGNC:DCAF7] (9)
 EF-hand domain containing [HGNC:EFHAND] (226) 
 polycystic kidney disease 2 (autosomal dominant) [HGNC:PKD2] (17)
 stromal cell derived factor 4 [HGNC:SDF4] (4)
 Endogenous Ligands [HGNC:ENDOLIG] (1191) 
 chemokine (C-C motif) ligand 02 [HGNC:CCL2] (337)
 Exostosin glycosyltransferase family [HGNC:EXT] (22) 
 exostosin glycosyltransferase 1 [HGNC:EXT1] (18)
 Fibrinogen C domain containing [HGNC:FIBC] (113) 
 tenascin C [HGNC:TNC] (33)
 Fibronectin type III domain containing [HGNC:FN3] (399) 
 growth hormone receptor [HGNC:GHR] (15)
 tenascin C [HGNC:TNC] (33)
 Frizzled receptors [HGNC:FZD] (42) 
 frizzled family receptor 2 [HGNC:FZD2] (22)
 Glypicans (GPI-anchored HSPG) [HGNC:GPC] (20) 
 glypican 4 [HGNC:GPC4] (10)
 Glycosyltransferase group 1 domain containing [HGNC:GLT1] (28) 
 ALG2, alpha-1,3/1,6-mannosyltransferase [HGNC:ALG2] (13)
 Immunoglobulin superfamily domain containing [HGNC:IGSF] (761) 
 I-set domain containing [HGNC:ISET] (447) 
 fibroblast growth factor receptor 1 [HGNC:FGFR1] (43)
 insulin-like growth factor binding protein 7 [HGNC:IGFBP7] (31)
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 Immunoglobulin-like domain containing [HGNC:IGD] (645) 
 platelet-derived growth factor receptor, beta polypeptide [HGNC:PDGFRB] (49)
 Kruppel-like transcription factors [HGNC:KLF] (106) 
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 Metallothioneins [HGNC:MT] (183) 
 metallothionein 1G [HGNC:MT1G] (56)
 metallothionein 2A [HGNC:MT2A] (133)
 Mitogen-activated protein kinase cascade [HGNC:MAP#K] (854) 
 Mitogen-activated protein kinases [HGNC:MAPK] (797) 
 mitogen-activated protein kinase 14 [HGNC:MAPK14] (162)
 Myosins [HGNC:myosin] (111) 
 Myosins, class X [HGNC:MYOX] (22) 
 myosin X [HGNC:MYO10] (22)
 Proteasome (prosome, macropain) subunits [HGNC:PSM] (98) 
 proteasome (prosome, macropain) 26S subunit, non-ATPase, 08 [HGNC:PSMD8] (12)
 proteasome (prosome, macropain) subunit, alpha type, 5 [HGNC:PSMA5] (12)
 proteasome (prosome, macropain) subunit, beta type, 07 [HGNC:PSMB7] (8)
 Proteoglycans [HGNC:proteoglycan] (70) 
 Proteoglycans, extracellular matrix: small leucine-rich repeats [HGNC:SLRR] (37) 
 decorin [HGNC:DCN] (27)
 RAB, member RAS oncogene [HGNC:RAB] (69) 
 RAB23, member RAS oncogene family [HGNC:RAB23] (13)
 RING-type zinc fingers [HGNC:RNF] (151) 
 ring finger protein 008, E3 ubiquitin protein ligase [HGNC:RNF8] (3)
 SH2 domain containing [HGNC:SH2D] (431) 
 FYN oncogene related to SRC, FGR, YES [HGNC:FYN] (47)
 Transient receptor potential cation channels [HGNC:TRP] (169) 
 polycystic kidney disease 2 (autosomal dominant) [HGNC:PKD2] (17)
 Tubulins [HGNC:TUB] (87) 
 tubulin, beta 3 class III [HGNC:TUBB3] (33)
 WD repeat domain containing [HGNC:WDR] (199) 
 DDB1 and CUL4 associated factor 07 [HGNC:DCAF7] (9)
 guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 [HGNC:GNB2L1] (16)
 phospholipase A2-activating protein [HGNC:PLAA] (10)
 ZINC FINGERS [HGNC:ZNF] (383) 
 Zinc fingers, C2H2-type [HGNC:ZNF] (349) 
 Kruppel-like factor 06 [HGNC:KLF6] (56)
 Other zinc fingers [HGNC:] (148) 
 Zinc fingers, MATRIN-type [HGNC:ZMAT] (17) 
 zinc finger, matrin-type 3 [HGNC:ZMAT3] (17)
2. Interaction: Human Genes and Chemicals 
2. Interaction: Human Genes and Chemicals
 Decreases (5154) 
 expression (2187)
 Increases (5571) 
 expression (3238)
A. Anatomy 
A. Anatomy
 Body Regions [MESH:D001829] (867) 
 Extremities [MESH:D005121] (484) 
 Lower Extremity [MESH:D035002] (139) 
 Foot [MESH:D005528] (125) 
 Forefoot, Human [MESH:D005545] (118) 
 Toes [MESH:D014034] (115) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Upper Extremity [MESH:D034941] (441) 
 Hand [MESH:D006225] (428) 
 Fingers [MESH:D005385] (422) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Cells [MESH:D002477] (1885) 
 Cellular Structures [MESH:D022082] (1562) 
 Chromosomes [MESH:D002875] (1300) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 21-22 and Y [MESH:D002904] (294) 
 Chromosomes, Human, Pair 21 [MESH:D002891] (58) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
C01. Bacterial Infections and Mycoses 
C01. Bacterial Infections and Mycoses
 Bacterial Infections [MESH:D001424] (3716) 
 Gram-Positive Bacterial Infections [MESH:D016908] (2434) 
 Actinomycetales Infections [MESH:D000193] (1466) 
 Mycobacterium Infections [MESH:D009164] (1446) 
 Tuberculosis [MESH:D014376] (992) 
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Infection [MESH:D007239] (4109) 
 Bone Diseases, Infectious [MESH:D001850] (90) 
 Osteomyelitis [MESH:D010019] (69) 
 Majeed syndrome [MESH:C537839] (33)
 Intraabdominal Infections [MESH:D059413] (958) 
 Peritonitis [MESH:D010538] (800)
C02. Virus Diseases 
C02. Virus Diseases
 Virus Diseases [MESH:D014777] (4544) 
 DNA Virus Infections [MESH:D004266] (2474) 
 Papillomavirus Infections [MESH:D030361] (630)
 Herpesviridae Infections [MESH:D006566] (1944) 
 Epstein-Barr Virus Infections [MESH:D020031] (695) 
 Burkitt Lymphoma [MESH:D002051] (691)
 RNA Virus Infections [MESH:D012327] (4215) 
 Orthomyxoviridae Infections [MESH:D009976] (1077) 
 Influenza, Human [MESH:D007251] (1075)
 Retroviridae Infections [MESH:D012192] (3420) 
 Lentivirus Infections [MESH:D016180] (3408) 
 HIV Infections [MESH:D015658] (3402)
 Sexually Transmitted Diseases [MESH:D012749] (3305) 
 Sexually Transmitted Diseases, Viral [MESH:D015229] (3304) 
 HIV Infections [MESH:D015658] (3296)
 Tumor Virus Infections [MESH:D014412] (1069) 
 Papillomavirus Infections [MESH:D030361] (537)
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
C03. Parasitic Diseases 
C03. Parasitic Diseases
 Parasitic Diseases [MESH:D010272] (3828) 
 Protozoan Infections [MESH:D011528] (3014) 
 Euglenozoa Infections [MESH:D056986] (2552) 
 Leishmaniasis [MESH:D007896] (2541) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
 Skin Diseases, Parasitic [MESH:D012876] (2541) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C04. Neoplasms 
C04. Neoplasms
 Neoplasms [MESH:D009369] (10293) 
 Neoplasms by Histologic Type [MESH:D009370] (8793) 
 Leukemia [MESH:D007938] (4576) 
 Leukemia, Myeloid [MESH:D007951] (2773) 
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Leukemia, Myeloid, Acute [MESH:D015470] (2176) 
 Leukemia, Monocytic, Acute [MESH:D007948] (98)
 Lymphoma [MESH:D008223] (3686) 
 Lymphoma, Non-Hodgkin [MESH:D008228] (3337) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742) 
 Neoplasms, Adipose Tissue [MESH:D018205] (677) 
 Liposarcoma [MESH:D008080] (612) 
 Liposarcoma, Myxoid [MESH:D018208] (358)
 Neoplasms, Connective Tissue [MESH:D009372] (3626) 
 Chondrosarcoma [MESH:D002813] (1217)
 Neoplasms, Bone Tissue [MESH:D018213] (2217) 
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Sarcoma [MESH:D012509] (4246) 
 Chondrosarcoma [MESH:D002813] (1217)
 Hemangiosarcoma [MESH:D006394] (1836)
 Liposarcoma [MESH:D008080] (612) 
 Liposarcoma, Myxoid [MESH:D018208] (358)
 Phyllodes Tumor [MESH:D003557] (113) 
 Phyllodes Tumor of the Prostate [MESH:C549759] (110)
 Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126) 
 Neuroectodermal Tumors [MESH:D017599] (5066) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Medulloblastoma [MESH:D008527] (1282)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3633) 
 Melanoma [MESH:D008545] (3508)
 Neoplasms, Glandular and Epithelial [MESH:D009375] (7760) 
 Adenoma [MESH:D000236] (4051) 
 Mesothelioma [MESH:D008654] (2567)
 Carcinoma [MESH:D002277] (7263) 
 Adenocarcinoma [MESH:D000230] (6565) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Carcinoma, Adenoid Cystic [MESH:D003528] (1561)
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500)
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Carcinoma in Situ [MESH:D002278] (2111) 
 Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831) 
 Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500)
 Carcinoma, Ductal [MESH:D044584] (1786) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Neoplasms, Mesothelial [MESH:D018301] (2569) 
 Mesothelioma [MESH:D008654] (2567)
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Medulloblastoma [MESH:D008527] (1282)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neoplasms, Squamous Cell [MESH:D018307] (4457) 
 Carcinoma, Squamous Cell [MESH:D002294] (4294) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Neoplasms, Nerve Tissue [MESH:D009380] (5201) 
 Neuroectodermal Tumors [MESH:D017599] (5059) 
 Neoplasms, Neuroepithelial [MESH:D018302] (4487) 
 Glioma [MESH:D005910] (4261) 
 Medulloblastoma [MESH:D008527] (1282)
 Astrocytoma [MESH:D001254] (2692) 
 Glioblastoma [MESH:D005909] (2554)
 Neuroectodermal Tumors, Primitive [MESH:D018242] (2005) 
 Medulloblastoma [MESH:D008527] (1282)
 Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433) 
 Neuroblastoma [MESH:D009447] (1420)
 Neuroendocrine Tumors [MESH:D018358] (3625) 
 Melanoma [MESH:D008545] (3508)
 Neoplasms, Plasma Cell [MESH:D054219] (2772) 
 Multiple Myeloma [MESH:D009101] (2767)
 Neoplasms, Vascular Tissue [MESH:D009383] (2959) 
 Hemangiosarcoma [MESH:D006394] (1836)
 Hemangioma [MESH:D006391] (690) 
 Hemangioma, Capillary [MESH:D018324] (503) 
 Hemangioblastoma [MESH:D018325] (395)
 Nevi and Melanomas [MESH:D018326] (3572) 
 Melanoma [MESH:D008545] (3508)
 Neoplasms by Site [MESH:D009371] (9169) 
 Bone Neoplasms [MESH:D001859] (1334)
 Skin Neoplasms [MESH:D012878] (2992)
 Breast Neoplasms [MESH:D001943] (6077) 
 Breast Neoplasms, Male [MESH:D018567] (650)
 Digestive System Neoplasms [MESH:D004067] (7487) 
 Gastrointestinal Neoplasms [MESH:D005770] (6452) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Intestinal Neoplasms [MESH:D007414] (5358) 
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Ovarian Neoplasms [MESH:D010051] (3275)
 Thyroid Neoplasms [MESH:D013964] (2040)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Head and Neck Neoplasms [MESH:D006258] (4612) 
 Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)
 Thyroid Neoplasms [MESH:D013964] (2040)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Mammary Neoplasms, Animal [MESH:D015674] (3404) 
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Nervous System Neoplasms [MESH:D009423] (3130) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764)
 Thoracic Neoplasms [MESH:D013899] (6032) 
 Respiratory Tract Neoplasms [MESH:D012142] (6020) 
 Lung Neoplasms [MESH:D008175] (6015) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Bronchial Neoplasms [MESH:D001984] (3608) 
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
 Urogenital Neoplasms [MESH:D014565] (7002) 
 Genital Neoplasms, Female [MESH:D005833] (2540) 
 Uterine Neoplasms [MESH:D014594] (2431) 
 Endometrial Neoplasms [MESH:D016889] (1987)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Phyllodes Tumor of the Prostate [MESH:C549759] (110)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Neoplasms, Experimental [MESH:D009374] (5218) 
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Mammary Neoplasms, Experimental [MESH:D008325] (3268)
 Tumor Virus Infections [MESH:D014412] (697) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Neoplastic Processes [MESH:D009385] (5317) 
 Anaplasia [MESH:D000708] (348)
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Metastasis [MESH:D009362] (4441)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Tumor Virus Infections [MESH:D014412] (759) 
 Epstein-Barr Virus Infections [MESH:D020031] (693) 
 Burkitt Lymphoma [MESH:D002051] (691)
C05. Musculoskeletal Diseases 
C05. Musculoskeletal Diseases
 Musculoskeletal Diseases [MESH:D009140] (8705) 
 Bone Diseases [MESH:D001847] (5801) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Bone Neoplasms [MESH:D001859] (1334)
 Bone Diseases, Developmental [MESH:D001848] (3315) 
 Dwarfism [MESH:D004392] (778) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Laron Syndrome [MESH:D046150] (91)
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Dysostoses [MESH:D004413] (1019) 
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Syndactyly [MESH:D013576] (487) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Osteochondrodysplasias [MESH:D010009] (2440) 
 Osteoglophonic dwarfism [MESH:C536050] (90)
 Chondrodysplasia Punctata [MESH:D002806] (108) 
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Osteochondroma [MESH:D015831] (157) 
 Osteochondromatosis [MESH:D018216] (155) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Bone Diseases, Endocrine [MESH:D001849] (747) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Bone Diseases, Infectious [MESH:D001850] (90) 
 Osteomyelitis [MESH:D010019] (69) 
 Majeed syndrome [MESH:C537839] (33)
 Bone Diseases, Metabolic [MESH:D001851] (3492) 
 Osteoporosis [MESH:D010024] (3037)
 Hyperostosis [MESH:D015576] (493) 
 Exostoses [MESH:D005096] (160) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Spinal Diseases [MESH:D013122] (2485) 
 Spinal Curvatures [MESH:D013121] (742) 
 Scoliosis [MESH:D012600] (194) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Foot Deformities [MESH:D005530] (553) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Acheiropodia [MESH:C536014] (13)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Hand Deformities [MESH:D006226] (590) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Acheiropodia [MESH:C536014] (13)
 Jaw Diseases [MESH:D007571] (1601) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330)
 Joint Diseases [MESH:D007592] (4657) 
 Arthritis [MESH:D001168] (4416) 
 Arthritis, Experimental [MESH:D001169] (3142)
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Osteoarthritis [MESH:D010003] (1743)
 Arthrogryposis [MESH:D001176] (329) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Muscular Diseases [MESH:D009135] (4071) 
 Arthrogryposis [MESH:D001176] (329) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Muscular Disorders, Atrophic [MESH:D020966] (1598) 
 Muscular Dystrophies [MESH:D009136] (1593) 
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Musculoskeletal Abnormalities [MESH:D009139] (3796) 
 Arthrogryposis [MESH:D001176] (329) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Craniofacial Abnormalities [MESH:D019465] (3098) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Lower Extremity Deformities, Congenital [MESH:D038061] (560) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Acheiropodia [MESH:C536014] (13)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Polydactyly [MESH:D017689] (318) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Syndactyly [MESH:D013576] (487) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Upper Extremity Deformities, Congenital [MESH:D038062] (604) 
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Acheiropodia [MESH:C536014] (13)
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Syndactyly [MESH:D013576] (487) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Rheumatic Diseases [MESH:D012216] (4032) 
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Osteoarthritis [MESH:D010003] (1743)
C06. Digestive System Diseases 
C06. Digestive System Diseases
 Digestive System Diseases [MESH:D004066] (9461) 
 Biliary Tract Diseases [MESH:D001660] (3845) 
 Bile Duct Diseases [MESH:D001649] (3512) 
 Cholestasis [MESH:D002779] (3419)
 Digestive System Neoplasms [MESH:D004067] (7493) 
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Gastrointestinal Diseases [MESH:D005767] (7443) 
 Esophageal Diseases [MESH:D004935] (4255) 
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Gastroenteritis [MESH:D005759] (4066) 
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Gastrointestinal Neoplasms [MESH:D005770] (6460) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Esophageal Neoplasms [MESH:D004938] (3737) 
 Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Intestinal Diseases [MESH:D007410] (6206) 
 Colonic Diseases [MESH:D003108] (5564) 
 Colitis [MESH:D003092] (3199) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Colorectal Neoplasms [MESH:D015179] (5282) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Inflammatory Bowel Diseases [MESH:D015212] (3492) 
 Colitis, Ulcerative [MESH:D003093] (2601)
 Crohn Disease [MESH:D003424] (2585)
 Intestinal Neoplasms [MESH:D007414] (5359) 
 Colorectal Neoplasms [MESH:D015179] (5294) 
 Colonic Neoplasms [MESH:D003110] (4405)
 Rectal Diseases [MESH:D012002] (4596) 
 Colorectal Neoplasms [MESH:D015179] (4534)
 Stomach Diseases [MESH:D013272] (5325) 
 Stomach Neoplasms [MESH:D013274] (4942)
 Liver Diseases [MESH:D008107] (8167) 
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Liver Diseases, Alcoholic [MESH:D008108] (3243)
 Hepatic Insufficiency [MESH:D048550] (2771) 
 Liver Failure [MESH:D017093] (2768) 
 Liver Failure, Acute [MESH:D017114] (2404)
 Hepatitis [MESH:D006505] (3883) 
 Hepatitis, Chronic [MESH:D006521] (2071) 
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Liver Cirrhosis [MESH:D008103] (5542) 
 Liver Cirrhosis, Experimental [MESH:D008106] (4589)
 Liver Neoplasms [MESH:D008113] (6048) 
 Carcinoma, Hepatocellular [MESH:D006528] (5375)
 Liver Neoplasms, Experimental [MESH:D008114] (2837)
 Pancreatic Diseases [MESH:D010182] (4453) 
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Peritoneal Diseases [MESH:D010532] (1119) 
 Peritonitis [MESH:D010538] (800)
C07. Stomatognathic Diseases 
C07. Stomatognathic Diseases
 Stomatognathic Diseases [MESH:D009057] (5348) 
 Jaw Diseases [MESH:D007571] (1608) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330)
 Mouth Diseases [MESH:D009059] (4783) 
 Lip Diseases [MESH:D008047] (924) 
 Cleft Lip [MESH:D002971] (914)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914)
 Cleft Palate [MESH:D002972] (1330)
 Mouth Neoplasms [MESH:D009062] (2263) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Salivary Gland Diseases [MESH:D012466] (1213) 
 Salivary Gland Neoplasms [MESH:D012468] (968)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914)
 Cleft Palate [MESH:D002972] (1330)
C08. Respiratory Tract Diseases 
C08. Respiratory Tract Diseases
 Respiratory Tract Diseases [MESH:D012140] (7881) 
 Pleural Diseases [MESH:D010995] (2240)
 Bronchial Diseases [MESH:D001982] (4382) 
 Asthma [MESH:D001249] (4098)
 Bronchial Hyperreactivity [MESH:D016535] (1357)
 Lung Diseases [MESH:D008171] (7249) 
 Hypertension, Pulmonary [MESH:D006976] (2000)
 Lung Injury [MESH:D055370] (3688)
 Pneumonia [MESH:D011014] (3482)
 Pulmonary Fibrosis [MESH:D011658] (3140)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Lung Diseases, Obstructive [MESH:D008173] (4697) 
 Asthma [MESH:D001249] (3903)
 Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564)
 Lung Neoplasms [MESH:D008175] (6012) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
 Respiratory Hypersensitivity [MESH:D012130] (4401) 
 Asthma [MESH:D001249] (4098)
 Respiratory Tract Infections [MESH:D012141] (3926) 
 Influenza, Human [MESH:D007251] (1075)
 Pneumonia [MESH:D011014] (3482)
 Tuberculosis, Pulmonary [MESH:D014397] (678)
 Respiratory Tract Neoplasms [MESH:D012142] (6053) 
 Lung Neoplasms [MESH:D008175] (6013) 
 Adenocarcinoma of lung [MESH:C538231] (1487)
 Bronchial Neoplasms [MESH:D001984] (3608) 
 Carcinoma, Bronchogenic [MESH:D002283] (3606) 
 Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)
 Small Cell Lung Carcinoma [MESH:D055752] (1380)
C09. Otorhinolaryngologic Diseases 
C09. Otorhinolaryngologic Diseases
 Otorhinolaryngologic Diseases [MESH:D010038] (3827) 
 Ear Diseases [MESH:D004427] (2522) 
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Deafness, Autosomal Dominant 20 [MESH:C565754] (69)
C10. Nervous System Diseases 
C10. Nervous System Diseases
 Z. Exceptions (4027) 
 Not Fully Specified [NFS] (4027)
 Nervous System Diseases [MESH:D009422] (13325) 
 Central Nervous System Diseases [MESH:D002493] (9745) 
 Brain Diseases [MESH:D001927] (9294) 
 Brain Injuries [MESH:D001930] (3429)
 Brain Neoplasms [MESH:D001932] (2764)
 Leukoencephalopathies [MESH:D056784] (1916)
 Basal Ganglia Diseases [MESH:D001480] (4268) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Multiple System Atrophy [MESH:D019578] (158) 
 Striatonigral Degeneration [MESH:D020955] (28) 
 Striatonigral degeneration infantile [MESH:C537500] (22)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143)
 Parkinson Disease [MESH:D010300] (3595)
 Brain Diseases, Metabolic [MESH:D001928] (3351) 
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Sandhoff Disease [MESH:D012497] (73)
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Cerebellar Diseases [MESH:D002526] (736) 
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Cerebrovascular Disorders [MESH:D002561] (5542) 
 Carotid Artery Diseases [MESH:D002340] (1993)
 Brain Ischemia [MESH:D002545] (4873) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 CADASIL [MESH:D046589] (45)
 Dementia, Vascular [MESH:D015140] (57) 
 CADASIL [MESH:D046589] (45)
 Intracranial Arterial Diseases [MESH:D020765] (2463) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 CADASIL [MESH:D046589] (45)
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 Stroke [MESH:D020521] (3702) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Dementia [MESH:D003704] (4498) 
 Alzheimer Disease [MESH:D000544] (4275)
 Lewy Body Disease [MESH:D020961] (1143)
 Dementia, Vascular [MESH:D015140] (57) 
 CADASIL [MESH:D046589] (45)
 Epilepsy [MESH:D004827] (6274) 
 Status Epilepticus [MESH:D013226] (4014)
 Hypothalamic Diseases [MESH:D007027] (1833) 
 Pituitary Diseases [MESH:D010900] (1808) 
 Hypopituitarism [MESH:D007018] (732) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Movement Disorders [MESH:D009069] (4823) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Dyskinesias [MESH:D020820] (1827) 
 Chorea [MESH:D002819] (651) 
 Paroxysmal nonkinesigenic dyskinesia [MESH:C537181] (23)
 Multiple System Atrophy [MESH:D019578] (158) 
 Striatonigral Degeneration [MESH:D020955] (28) 
 Striatonigral degeneration infantile [MESH:C537500] (22)
 Parkinsonian Disorders [MESH:D020734] (4009) 
 Lewy Body Disease [MESH:D020961] (1143)
 Parkinson Disease [MESH:D010300] (3595)
 Ocular Motility Disorders [MESH:D015835] (364) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Spinal Cord Diseases [MESH:D013118] (4376) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)
 Spinal Cord Compression [MESH:D013117] (1800)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Cranial Nerve Diseases [MESH:D003389] (2004) 
 Ocular Motility Disorders [MESH:D015835] (1697) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Nervous System Malformations [MESH:D009421] (3354) 
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Neuronal Migration Disorders [MESH:D054081] (264)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Nervous System Neoplasms [MESH:D009423] (3073) 
 Central Nervous System Neoplasms [MESH:D016543] (3055) 
 Brain Neoplasms [MESH:D001932] (2764)
 Neurodegenerative Diseases [MESH:D019636] (6613) 
 Lewy Body Disease [MESH:D020961] (1143)
 Parkinson Disease [MESH:D010300] (3595)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Motor Neuron Disease [MESH:D016472] (3670) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Multiple System Atrophy [MESH:D019578] (158) 
 Striatonigral Degeneration [MESH:D020955] (28) 
 Striatonigral degeneration infantile [MESH:C537500] (22)
 Tauopathies [MESH:D024801] (4289) 
 Alzheimer Disease [MESH:D000544] (4275)
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)
 Neurologic Manifestations [MESH:D009461] (8964) 
 Dyskinesias [MESH:D020820] (3365) 
 Catalepsy [MESH:D002375] (1429)
 Ataxia [MESH:D001259] (1138) 
 Cerebellar Ataxia [MESH:D002524] (542) 
 Spinocerebellar Ataxias [MESH:D020754] (406) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Chorea [MESH:D002819] (189) 
 Paroxysmal nonkinesigenic dyskinesia [MESH:C537181] (23)
 Neurobehavioral Manifestations [MESH:D019954] (5230) 
 Intellectual Disability [MESH:D008607] (3054) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypotonia [MESH:D009123] (258) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Sensation Disorders [MESH:D012678] (5011) 
 Hearing Disorders [MESH:D006311] (2103) 
 Hearing Loss [MESH:D034381] (2068) 
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Deafness, Autosomal Dominant 20 [MESH:C565754] (69)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Neuromuscular Diseases [MESH:D009468] (7336) 
 Peripheral Nervous System Diseases [MESH:D010523] (6151)
 Motor Neuron Disease [MESH:D016472] (3670) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)
 Muscular Atrophy, Spinal [MESH:D009134] (850) 
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Muscular Diseases [MESH:D009135] (3538) 
 Muscular Disorders, Atrophic [MESH:D020966] (1594) 
 Muscular Dystrophies [MESH:D009136] (1589) 
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Neurotoxicity Syndromes [MESH:D020258] (4570) 
 Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912) 
 Arsenic Poisoning [MESH:D020261] (2540)
 Trauma, Nervous System [MESH:D020196] (3997) 
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
C11. Eye Diseases 
C11. Eye Diseases
 Eye Diseases [MESH:D005128] (6245) 
 Corneal Diseases [MESH:D003316] (1445) 
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
 Eye Abnormalities [MESH:D005124] (1233) 
 Coloboma [MESH:D003103] (315)
 Eye Diseases, Hereditary [MESH:D015785] (1869) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
 Lens Diseases [MESH:D007905] (900) 
 Cataract [MESH:D002386] (860) 
 Hyperferritinemia, hereditary, with congenital cataracts [MESH:C538137] (82)
 Ocular Motility Disorders [MESH:D015835] (1699) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Retinal Diseases [MESH:D012164] (3747) 
 Retinal Degeneration [MESH:D012162] (2386) 
 Macular Degeneration [MESH:D008268] (995) 
 Fundus Dystrophy, Pseudoinflammatory, Of Sorsby [MESH:C564992] (121)
C12. Male Urogenital Diseases 
C12. Male Urogenital Diseases
 Male Urogenital Diseases [MESH:D052801] (8891) 
 Genital Diseases, Male [MESH:D005832] (6794) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Phyllodes Tumor of the Prostate [MESH:C549759] (110)
 Infertility [MESH:D007246] (2909) 
 Infertility, Male [MESH:D007248] (2851)
 Penile Diseases [MESH:D010409] (1805) 
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Prostatic Diseases [MESH:D011469] (6204) 
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Phyllodes Tumor of the Prostate [MESH:C549759] (110)
 Urogenital Abnormalities [MESH:D014564] (2065) 
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Urogenital Neoplasms [MESH:D014565] (6932) 
 Genital Neoplasms, Male [MESH:D005834] (6224) 
 Prostatic Neoplasms [MESH:D011471] (6135) 
 Phyllodes Tumor of the Prostate [MESH:C549759] (110)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Urologic Diseases [MESH:D014570] (7792) 
 Kidney Diseases [MESH:D007674] (7242) 
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hyperoxaluria [MESH:D006959] (1498)
 Nephrosis [MESH:D009401] (2228)
 Uremia [MESH:D014511] (2898)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Nephritis [MESH:D009393] (4236) 
 Nephritis, Interstitial [MESH:D009395] (1927)
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Urinary Bladder Diseases [MESH:D001745] (4374) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urination Disorders [MESH:D014555] (3598) 
 Proteinuria [MESH:D011507] (3293)
 Urolithiasis [MESH:D052878] (585) 
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
C13. Female Urogenital Diseases and Pregnancy Complications 
C13. Female Urogenital Diseases and Pregnancy Complications
 Female Urogenital Diseases [MESH:D052776] (8724) 
 Genital Diseases, Female [MESH:D005831] (5563) 
 Endometriosis [MESH:D004715] (2461)
 Adnexal Diseases [MESH:D000291] (4273) 
 Ovarian Diseases [MESH:D010049] (4255) 
 Ovarian Neoplasms [MESH:D010051] (3281)
 Uterine Diseases [MESH:D014591] (2479) 
 Uterine Cervical Diseases [MESH:D002577] (988) 
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Uterine Neoplasms [MESH:D014594] (2430) 
 Endometrial Neoplasms [MESH:D016889] (1984)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Urogenital Abnormalities [MESH:D014564] (2043) 
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Urogenital Neoplasms [MESH:D014565] (5792) 
 Genital Neoplasms, Female [MESH:D005833] (3810) 
 Ovarian Neoplasms [MESH:D010051] (3281)
 Uterine Neoplasms [MESH:D014594] (2433) 
 Endometrial Neoplasms [MESH:D016889] (1989)
 Uterine Cervical Neoplasms [MESH:D002583] (978)
 Urologic Neoplasms [MESH:D014571] (5315) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Urologic Diseases [MESH:D014570] (7793) 
 Kidney Diseases [MESH:D007674] (7242) 
 Diabetic Nephropathies [MESH:D003928] (2301)
 Hyperoxaluria [MESH:D006959] (1498)
 Nephrosis [MESH:D009401] (2228)
 Uremia [MESH:D014511] (2898)
 Kidney Diseases, Cystic [MESH:D052177] (1009) 
 Polycystic Kidney Diseases [MESH:D007690] (853) 
 Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522)
 Kidney Neoplasms [MESH:D007680] (3966) 
 Carcinoma, Renal Cell [MESH:D002292] (2975)
 Nephritis [MESH:D009393] (4236) 
 Nephritis, Interstitial [MESH:D009395] (1927)
 Glomerulonephritis [MESH:D005921] (3758) 
 Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Renal Insufficiency [MESH:D051437] (4951) 
 Acute Kidney Injury [MESH:D058186] (4142)
 Renal Insufficiency, Chronic [MESH:D051436] (2931) 
 Kidney Failure, Chronic [MESH:D007676] (2930)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1058) 
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Urinary Bladder Diseases [MESH:D001745] (4375) 
 Urinary Bladder Neoplasms [MESH:D001749] (4079)
 Urination Disorders [MESH:D014555] (3598) 
 Proteinuria [MESH:D011507] (3293)
 Urolithiasis [MESH:D052878] (585) 
 Nephrolithiasis [MESH:D053040] (492) 
 Kidney Calculi [MESH:D007669] (455)
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
 Pregnancy Complications [MESH:D011248] (4768) 
 Abortion, Spontaneous [MESH:D000022] (2780)
 Diabetes, Gestational [MESH:D016640] (1157)
 Hypertension, Pregnancy-Induced [MESH:D046110] (1453) 
 Pre-Eclampsia [MESH:D011225] (1435)
 Obstetric Labor Complications [MESH:D007744] (1550) 
 Obstetric Labor, Premature [MESH:D007752] (1316)
C14. Cardiovascular Diseases 
C14. Cardiovascular Diseases
 Z. Exceptions (2667) 
 Not Fully Specified [NFS] (2667)
 Cardiovascular Diseases [MESH:D002318] (10123) 
 Heart Diseases [MESH:D006331] (8614) 
 Heart Failure [MESH:D006333] (4058)
 Cardiomegaly [MESH:D006332] (4081) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Cardiomyopathies [MESH:D009202] (5331) 
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1516)
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Heart Valve Diseases [MESH:D006349] (3333) 
 Aortic Valve Stenosis [MESH:D001024] (1742) 
 Aortic Stenosis, Subvalvular [MESH:D001020] (1455) 
 Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)
 Myocardial Ischemia [MESH:D017202] (5787) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Infarction [MESH:D009203] (4122)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Vascular Diseases [MESH:D014652] (8691) 
 Hypertension [MESH:D006973] (5655)
 Varicose Veins [MESH:D014648] (383)
 Vascular System Injuries [MESH:D057772] (2086)
 Aneurysm [MESH:D000783] (1886) 
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
 Aortic Diseases [MESH:D001018] (1737) 
 Aortic Aneurysm [MESH:D001014] (1721) 
 Aortic Aneurysm, Abdominal [MESH:D017544] (1519)
 Arterial Occlusive Diseases [MESH:D001157] (4520) 
 Arteriosclerosis [MESH:D001161] (4466) 
 Atherosclerosis [MESH:D050197] (4188)
 Coronary Artery Disease [MESH:D003324] (2685)
 Cerebrovascular Disorders [MESH:D002561] (5541) 
 Carotid Artery Diseases [MESH:D002340] (1993)
 Brain Ischemia [MESH:D002545] (4873) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Cerebral Small Vessel Diseases [MESH:D059345] (1292) 
 CADASIL [MESH:D046589] (45)
 Intracranial Arterial Diseases [MESH:D020765] (2468) 
 Cerebral Arterial Diseases [MESH:D002539] (2440) 
 CADASIL [MESH:D046589] (45)
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Intracranial Hemorrhages [MESH:D020300] (3269) 
 Cerebral Hemorrhage [MESH:D002543] (2873)
 Stroke [MESH:D020521] (3702) 
 Brain Infarction [MESH:D020520] (2571) 
 Cerebral Infarction [MESH:D002544] (2458) 
 Infarction, Middle Cerebral Artery [MESH:D020244] (2268)
 Embolism and Thrombosis [MESH:D016769] (3374) 
 Thromboembolism [MESH:D013923] (732)
 Thrombosis [MESH:D013927] (3101) 
 Thromboembolism [MESH:D013923] (732)
 Hemostatic Disorders [MESH:D020141] (2894) 
 Multiple Myeloma [MESH:D009101] (2765)
 Myocardial Ischemia [MESH:D017202] (5791) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Myocardial Infarction [MESH:D009203] (4151)
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Angina Pectoris [MESH:D000787] (2575) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Coronary Disease [MESH:D003327] (3439) 
 Coronary Artery Disease [MESH:D003324] (2685)
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
C15. Hemic and Lymphatic Diseases 
C15. Hemic and Lymphatic Diseases
 Hematologic Diseases [MESH:D006402] (6174) 
 Anemia [MESH:D000740] (3966) 
 Anemia, Hemolytic [MESH:D000743] (3083) 
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81) 
 Majeed syndrome [MESH:C537839] (33)
 Elliptocytosis, Hereditary [MESH:D004612] (95) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Blood Protein Disorders [MESH:D001796] (3051) 
 Paraproteinemias [MESH:D010265] (2781) 
 Multiple Myeloma [MESH:D009101] (2765)
 Bone Marrow Diseases [MESH:D001855] (2944) 
 Myelodysplastic Syndromes [MESH:D009190] (2093)
 Myeloproliferative Disorders [MESH:D009196] (1492) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)
 Hemorrhagic Disorders [MESH:D006474] (3359) 
 Hemostatic Disorders [MESH:D020141] (2932) 
 Multiple Myeloma [MESH:D009101] (2765)
 Leukocyte Disorders [MESH:D007960] (2662) 
 Eosinophilia [MESH:D004802] (537) 
 Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)
 Lymphatic Diseases [MESH:D008206] (5167) 
 Lymphoproliferative Disorders [MESH:D008232] (4638) 
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Lymphoma [MESH:D008223] (3684) 
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities 
C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities
 Congenital, Hereditary, and Neonatal Diseases and Abnormalities [MESH:D009358] (12152) 
 Congenital Abnormalities [MESH:D000013] (8109) 
 Abnormalities, Multiple [MESH:D000015] (3192)
 Skin Abnormalities [MESH:D012868] (1723)
 Eye Abnormalities [MESH:D005124] (1233) 
 Coloboma [MESH:D003103] (315)
 Musculoskeletal Abnormalities [MESH:D009139] (3779) 
 Arthrogryposis [MESH:D001176] (329) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Craniofacial Abnormalities [MESH:D019465] (3064) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Maxillofacial Abnormalities [MESH:D019767] (1448) 
 Jaw Abnormalities [MESH:D007569] (1435) 
 Cleft Palate [MESH:D002972] (1330)
 Plagiocephaly [MESH:D059041] (440) 
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Limb Deformities, Congenital [MESH:D017880] (1813) 
 Foot Deformities, Congenital [MESH:D005532] (538) 
 Acheiropodia [MESH:C536014] (13)
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Hand Deformities, Congenital [MESH:D006228] (587) 
 Acheiropodia [MESH:C536014] (13)
 Polydactyly [MESH:D017689] (318) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Syndactyly [MESH:D013576] (487) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Synostosis [MESH:D013580] (817) 
 Craniosynostoses [MESH:D003398] (438) 
 Jackson-Weiss syndrome [MESH:C537559] (149)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Syndactyly [MESH:D013576] (487) 
 Syndactyly, Type IV [MESH:C566092] (13)
 Acrocephalosyndactylia [MESH:D000168] (201) 
 Pfeiffer type acrocephalosyndactyly [MESH:C538582] (149)
 Acrocephalopolysyndactyly Type II [MESH:C563187] (27)
 Nervous System Malformations [MESH:D009421] (3354) 
 Malformations of Cortical Development [MESH:D054220] (1406) 
 Neuronal Migration Disorders [MESH:D054081] (264)
 Macrocephaly [MESH:D058627] (264) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Neural Tube Defects [MESH:D009436] (2143) 
 Spinal Dysraphism [MESH:D016135] (1025)
 Stomatognathic System Abnormalities [MESH:D018640] (1705) 
 Maxillofacial Abnormalities [MESH:D019767] (1447) 
 Jaw Abnormalities [MESH:D007569] (1438) 
 Cleft Palate [MESH:D002972] (1330)
 Mouth Abnormalities [MESH:D009056] (1383) 
 Cleft Lip [MESH:D002971] (914)
 Cleft Palate [MESH:D002972] (1330)
 Urogenital Abnormalities [MESH:D014564] (2064) 
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Hypospadias [MESH:D007021] (798) 
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Genetic Diseases, Inborn [MESH:D030342] (9766) 
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 CADASIL [MESH:D046589] (45)
 Kallmann Syndrome [MESH:D017436] (147)
 Anemia, Hemolytic, Congenital [MESH:D000745] (2001) 
 Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81) 
 Majeed syndrome [MESH:C537839] (33)
 Elliptocytosis, Hereditary [MESH:D004612] (95) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Dwarfism [MESH:D004392] (783) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Laron Syndrome [MESH:D046150] (91)
 Eye Diseases, Hereditary [MESH:D015785] (1867) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Corneal Dystrophies, Hereditary [MESH:D003317] (341) 
 Corneal Dystrophy, Congenital Stromal [MESH:C566452] (90)
 Genetic Diseases, X-Linked [MESH:D040181] (3028) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Hypospadias 1, X-Linked [MESH:C567482] (571)
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Bulbo-Spinal Atrophy, X-Linked [MESH:D055534] (566) 
 Bulbospinal neuronopathy, X-linked recessive [MESH:C537017] (565)
 Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Spinocerebellar Degenerations [MESH:D013132] (449) 
 Spinocerebellar Ataxias [MESH:D020754] (322) 
 Machado-Joseph Disease [MESH:D017827] (37)
 Metabolism, Inborn Errors [MESH:D008661] (6032) 
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Sandhoff Disease [MESH:D012497] (73)
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Congenital Disorders of Glycosylation [MESH:D018981] (188) 
 Congenital disorder of glycosylation type II [MESH:C535747] (28)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Lactate dehydrogenase deficiency type A [MESH:C538133] (119)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Lipidoses [MESH:D008064] (1655) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027) 
 Renal Aminoacidurias [MESH:D000608] (95) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Muscular Dystrophies [MESH:D009136] (1597) 
 Muscular Dystrophy, Duchenne [MESH:D020388] (942)
 Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)
 Neoplastic Syndromes, Hereditary [MESH:D009386] (2578) 
 Exostoses, Multiple Hereditary [MESH:D005097] (154)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Skin Diseases, Genetic [MESH:D012873] (3456) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Cutis Laxa [MESH:D003483] (177) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
C17. Skin and Connective Tissue Diseases 
C17. Skin and Connective Tissue Diseases
 Connective Tissue Diseases [MESH:D003240] (4490) 
 Lupus Erythematosus, Systemic [MESH:D008180] (2317)
 Collagen Diseases [MESH:D003095] (1267) 
 Keloid [MESH:D007627] (1111)
 Nephritis, Hereditary [MESH:D009394] (62) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Osteogenesis Imperfecta [MESH:D010013] (481) 
 Bruck syndrome 2 [MESH:C537407] (64)
 Cutis Laxa [MESH:D003483] (177) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Rheumatic Diseases [MESH:D012216] (3619) 
 Arthritis, Rheumatoid [MESH:D001172] (3603)
 Skin Diseases [MESH:D012871] (8774) 
 Skin Abnormalities [MESH:D012868] (1709)
 Skin Neoplasms [MESH:D012878] (2991)
 Breast Diseases [MESH:D001941] (6148) 
 Breast Neoplasms [MESH:D001943] (6077) 
 Breast Neoplasms, Male [MESH:D018567] (650)
 Dermatitis [MESH:D003872] (4530) 
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Hair Diseases [MESH:D006201] (1891) 
 Hypotrichosis [MESH:D007039] (1513) 
 Alopecia [MESH:D000505] (1453) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Skin Diseases, Eczematous [MESH:D017443] (3740) 
 Dermatitis, Contact [MESH:D003877] (3394) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Skin Diseases, Genetic [MESH:D012873] (3481) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Cutis Laxa [MESH:D003483] (177) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Skin Diseases, Infectious [MESH:D012874] (2684) 
 Skin Diseases, Parasitic [MESH:D012876] (2526) 
 Leishmaniasis [MESH:D007896] (2516) 
 Leishmaniasis, Cutaneous [MESH:D016773] (2359)
C18. Nutritional and Metabolic Diseases 
C18. Nutritional and Metabolic Diseases
 Metabolic Diseases [MESH:D008659] (9025) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Brain Diseases, Metabolic [MESH:D001928] (3350) 
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Sandhoff Disease [MESH:D012497] (73)
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Calcium Metabolism Disorders [MESH:D002128] (3634) 
 Calcinosis [MESH:D002114] (2989)
 Glucose Metabolism Disorders [MESH:D044882] (6122) 
 Diabetes Mellitus [MESH:D003920] (5891) 
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
 Diabetes, Gestational [MESH:D016640] (1152)
 Hyperinsulinism [MESH:D006946] (3586) 
 Insulin Resistance [MESH:D007333] (3511) 
 Metabolic Syndrome X [MESH:D024821] (2151)
 Iron Metabolism Disorders [MESH:D019189] (2139) 
 Hyperferritinemia, hereditary, with congenital cataracts [MESH:C538137] (82)
 Lipid Metabolism Disorders [MESH:D052439] (3225) 
 Lipidoses [MESH:D008064] (1655) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Metabolism, Inborn Errors [MESH:D008661] (6028) 
 Phosphoglycerate Kinase 1 Deficiency [MESH:C567067] (98)
 Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Sandhoff Disease [MESH:D012497] (73)
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100) 
 Congenital Disorders of Glycosylation [MESH:D018981] (188) 
 Congenital disorder of glycosylation type II [MESH:C535747] (28)
 Glycogen Storage Disease [MESH:D006008] (530) 
 Lactate dehydrogenase deficiency type A [MESH:C538133] (119)
 Lipid Metabolism, Inborn Errors [MESH:D008052] (2071) 
 Lipidoses [MESH:D008064] (1655) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Lysosomal Storage Diseases [MESH:D016464] (761) 
 Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636) 
 Sphingolipidoses [MESH:D013106] (582) 
 Gangliosidoses [MESH:D005733] (146) 
 Gangliosidoses, GM2 [MESH:D020143] (126) 
 Sandhoff Disease [MESH:D012497] (73)
 Metal Metabolism, Inborn Errors [MESH:D008664] (2017) 
 Hepatolenticular Degeneration [MESH:D006527] (473)
 Peroxisomal Disorders [MESH:D018901] (1788) 
 Chondrodysplasia Punctata, Rhizomelic [MESH:D018902] (53) 
 Rhizomelic chondrodysplasia punctata, type 3 [MESH:C537608] (26)
 Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026) 
 Renal Aminoacidurias [MESH:D000608] (89) 
 Cystinuria [MESH:D003555] (67) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Mitochondrial Diseases [MESH:D028361] (2561) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Proteostasis Deficiencies [MESH:D057165] (3522) 
 TDP-43 Proteinopathies [MESH:D057177] (3337) 
 Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)
 Nutrition Disorders [MESH:D009748] (4945) 
 Overnutrition [MESH:D044343] (4463) 
 Obesity [MESH:D009765] (4462)
C19. Endocrine System Diseases 
C19. Endocrine System Diseases
 Endocrine System Diseases [MESH:D004700] (8062) 
 Diabetes Mellitus [MESH:D003920] (6159) 
 Diabetes, Gestational [MESH:D016640] (1152)
 Diabetes Mellitus, Experimental [MESH:D003921] (4771)
 Diabetes Mellitus, Type 2 [MESH:D003924] (4219)
 Diabetes Complications [MESH:D048909] (4129) 
 Diabetic Cardiomyopathies [MESH:D058065] (1995)
 Diabetic Nephropathies [MESH:D003928] (2301)
 Dwarfism [MESH:D004392] (698) 
 Gerodermia osteodysplastica [MESH:C537799] (12)
 Laron Syndrome [MESH:D046150] (91)
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Endocrine Gland Neoplasms [MESH:D004701] (4925) 
 Ovarian Neoplasms [MESH:D010051] (3275)
 Thyroid Neoplasms [MESH:D013964] (2040)
 Pancreatic Neoplasms [MESH:D010190] (3820) 
 Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)
 Gonadal Disorders [MESH:D006058] (5088) 
 Disorders of Sex Development [MESH:D012734] (1637) 
 46, XY Disorders of Sex Development [MESH:D058490] (1060) 
 Androgen-Insensitivity Syndrome [MESH:D013734] (567)
 Kallmann Syndrome [MESH:D017436] (147)
 Hypogonadism [MESH:D007006] (1123) 
 Kallmann Syndrome [MESH:D017436] (147)
 Ovarian Diseases [MESH:D010049] (4253) 
 Ovarian Neoplasms [MESH:D010051] (3281)
 Pituitary Diseases [MESH:D010900] (1829) 
 Hypopituitarism [MESH:D007018] (732) 
 Dwarfism, Pituitary [MESH:D004393] (235) 
 Short Stature, Idiopathic, Autosomal [MESH:C565805] (194)
 Thyroid Diseases [MESH:D013959] (2808) 
 Thyroid Neoplasms [MESH:D013964] (2040)
C20. Immune System Diseases 
C20. Immune System Diseases
 Immune System Diseases [MESH:D007154] (7674) 
 Autoimmune Diseases [MESH:D001327] (5067) 
 Arthritis, Rheumatoid [MESH:D001172] (3601)
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Hepatitis, Autoimmune [MESH:D019693] (1982)
 Lupus Erythematosus, Systemic [MESH:D008180] (2317)
 Hypersensitivity [MESH:D006967] (5873) 
 Hypersensitivity, Delayed [MESH:D006968] (3408) 
 Dermatitis, Allergic Contact [MESH:D017449] (3241)
 Hypersensitivity, Immediate [MESH:D006969] (4980) 
 Respiratory Hypersensitivity [MESH:D012130] (4250) 
 Asthma [MESH:D001249] (3914)
 Immunologic Deficiency Syndromes [MESH:D007153] (3788) 
 HIV Infections [MESH:D015658] (3402)
 Immunoproliferative Disorders [MESH:D007160] (4761) 
 Lymphoproliferative Disorders [MESH:D008232] (4734) 
 Autoimmune Lymphoproliferative Syndrome [MESH:D056735] (704)
 Multiple Myeloma [MESH:D009101] (2767)
 Lymphoma [MESH:D008223] (3684) 
 Lymphoma, Non-Hodgkin [MESH:D008228] (3330) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Mantle-Cell [MESH:D020522] (561)
 Lymphoma, B-Cell [MESH:D016393] (2624) 
 Burkitt Lymphoma [MESH:D002051] (691)
 Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)
 Paraproteinemias [MESH:D010265] (2791) 
 Multiple Myeloma [MESH:D009101] (2765)
C22. Animal Diseases 
C22. Animal Diseases
 Animal Diseases [MESH:D000820] (3656) 
 Mammary Neoplasms, Animal [MESH:D015674] (2735)
C23. Pathological Conditions, Signs and Symptoms 
C23. Pathological Conditions, Signs and Symptoms
 Pathological Conditions, Anatomical [MESH:D020763] (6074) 
 Alopecia [MESH:D000505] (1383) 
 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis [MESH:C567770] (35)
 Atrophy [MESH:D001284] (2603) 
 Muscular Atrophy [MESH:D009133] (1234)
 Calculi [MESH:D002137] (756) 
 Urinary Calculi [MESH:D014545] (521) 
 Kidney Calculi [MESH:D007669] (455)
 Hernia [MESH:D006547] (2825) 
 Hernia, Diaphragmatic [MESH:D006548] (2647) 
 Congenital diaphragmatic hernia [MESH:C538080] (381)
 Hypertrophy [MESH:D006984] (4476) 
 Cardiomegaly [MESH:D006332] (3802) 
 Hypertrophy, Left Ventricular [MESH:D017379] (1430)
 Pathologic Processes [MESH:D010335] (9863) 
 Hyperplasia [MESH:D006965] (2463)
 Inflammation [MESH:D007249] (5241)
 Nerve Degeneration [MESH:D009410] (4061)
 Ulcer [MESH:D014456] (392)
 Chromosome Aberrations [MESH:D002869] (2352) 
 Aneuploidy [MESH:D000782] (1237) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Disease Attributes [MESH:D020969] (3654) 
 Disease Progression [MESH:D018450] (2868)
 Fibrosis [MESH:D005355] (3133) 
 Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement [MESH:C567572] (70)
 Cicatrix [MESH:D002921] (1115) 
 Keloid [MESH:D007627] (1110)
 Hemorrhage [MESH:D006470] (4451) 
 Intracranial Hemorrhages [MESH:D020300] (3241) 
 Cerebral Hemorrhage [MESH:D002543] (2872)
 Neoplastic Processes [MESH:D009385] (5317) 
 Anaplasia [MESH:D000708] (348)
 Neoplasm Invasiveness [MESH:D009361] (3388)
 Neoplasm Metastasis [MESH:D009362] (4441)
 Neoplasm Recurrence, Local [MESH:D009364] (1949)
 Carcinogenesis [MESH:D063646] (3391) 
 Cell Transformation, Neoplastic [MESH:D002471] (3389)
 Postoperative Complications [MESH:D011183] (5311) 
 Reperfusion Injury [MESH:D015427] (4968) 
 Myocardial Reperfusion Injury [MESH:D015428] (3500)
 Signs and Symptoms [MESH:D012816] (10659) 
 Edema [MESH:D004487] (3726)
 Body Weight [MESH:D001835] (4972) 
 Body Weight Changes [MESH:D001836] (3206) 
 Weight Gain [MESH:D015430] (2595)
 Overweight [MESH:D050177] (4455) 
 Obesity [MESH:D009765] (4454)
 Neurologic Manifestations [MESH:D009461] (8702) 
 Dyskinesias [MESH:D020820] (3285) 
 Catalepsy [MESH:D002375] (1429)
 Chorea [MESH:D002819] (189) 
 Paroxysmal nonkinesigenic dyskinesia [MESH:C537181] (23)
 Neurobehavioral Manifestations [MESH:D019954] (4706) 
 Intellectual Disability [MESH:D008607] (1476) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Neuromuscular Manifestations [MESH:D020879] (2130) 
 Muscular Atrophy [MESH:D009133] (1234)
 Muscle Hypotonia [MESH:D009123] (258) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Sensation Disorders [MESH:D012678] (5009) 
 Hearing Disorders [MESH:D006311] (2101) 
 Hearing Loss [MESH:D034381] (2066) 
 Hearing Loss, Sensorineural [MESH:D006319] (1227) 
 Deafness, Autosomal Dominant 20 [MESH:C565754] (69)
 Somatosensory Disorders [MESH:D020886] (4000) 
 Hyperalgesia [MESH:D006930] (3929)
 Pain [MESH:D010146] (4511) 
 Chest Pain [MESH:D002637] (2642) 
 Angina Pectoris [MESH:D000787] (2568) 
 Acute Coronary Syndrome [MESH:D054058] (2286)
 Signs and Symptoms, Respiratory [MESH:D012818] (2724) 
 Anoxia [MESH:D000860] (1698)
 Urological Manifestations [MESH:D020924] (3532) 
 Proteinuria [MESH:D011507] (3293)
C25. Chemically-Induced Disorders 
C25. Chemically-Induced Disorders
 Drug-Related Side Effects and Adverse Reactions [MESH:D064420] (5839) 
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Poisoning [MESH:D011041] (6703) 
 Arsenic Poisoning [MESH:D020261] (2540)
 Drug-Induced Liver Injury [MESH:D056486] (4936)
 Neurotoxicity Syndromes [MESH:D020258] (3323)
 Substance-Related Disorders [MESH:D019966] (6308) 
 Alcohol-Related Disorders [MESH:D019973] (3869) 
 Alcohol-Induced Disorders [MESH:D020751] (3350) 
 Liver Diseases, Alcoholic [MESH:D008108] (3243)
C26. Wounds and Injuries 
C26. Wounds and Injuries
 Z. Exceptions (2454) 
 Not Fully Specified [NFS] (2454)
 Wounds and Injuries [MESH:D014947] (5171) 
 Vascular System Injuries [MESH:D057772] (2086)
 Craniocerebral Trauma [MESH:D006259] (3523) 
 Brain Injuries [MESH:D001930] (3431)
 Spinal Cord Injuries [MESH:D013119] (2688) 
 Spinal Cord Compression [MESH:D013117] (1800)
 Thoracic Injuries [MESH:D013898] (1831) 
 Lung Injury [MESH:D055370] (1814)
 Trauma, Nervous System [MESH:D020196] (3535) 
 Craniocerebral Trauma [MESH:D006259] (3507) 
 Brain Injuries [MESH:D001930] (3431)
D03. Heterocyclic Compounds 
D03. Heterocyclic Compounds
 Heterocyclic Compounds [MESH:D006571] (56330) 
 Pyrans [MESH:D011714] (6850)
 Heterocyclic Compounds, 1-Ring [MESH:D006573] (30631) 
 Pyrans [MESH:D011714] (1242)
D27. Chemical Actions and Uses 
D27. Chemical Actions and Uses
 Pharmacologic Actions [MESH:D020228] (2566) 
 Therapeutic Uses [MESH:D045506] (1611) 
 Anti-Infective Agents [MESH:D000890] (386) 
 Anti-Bacterial Agents [MESH:D000900] (107)
 Antiparasitic Agents [MESH:D000977] (87) 
 Antiprotozoal Agents [MESH:D000981] (58) 
 Coccidiostats [MESH:D003049] (7)
F. Psychiatry and Psychology 
F. Psychiatry and Psychology
 Behavior and Behavior Mechanisms [MESH:D001520] (1594) 
 Neurobehavioral Manifestations [MESH:D019954] (1206) 
 Intellectual Disability [MESH:D008607] (1109) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Mental Disorders [MESH:D001523] (2063) 
 Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245) 
 Intellectual Disability [MESH:D008607] (1109) 
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis [MESH:C564570] (23)
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
G. Phenomena and Processes 
G. Phenomena and Processes
 Genetic Phenomena [MESH:D055614] (1922) 
 Genetic Processes [MESH:D039361] (1336) 
 Mutagenesis [MESH:D016296] (1150) 
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Genetic Structures [MESH:D040342] (1612) 
 Chromosomes [MESH:D002875] (1304) 
 Chromosomes, Mammalian [MESH:D033481] (1282) 
 Chromosomes, Human [MESH:D002877] (1280) 
 Chromosomes, Human, 21-22 and Y [MESH:D002904] (294) 
 Chromosomes, Human, Pair 21 [MESH:D002891] (58) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Genetic Variation [MESH:D014644] (1337) 
 Mutation [MESH:D009154] (1327) 
 Allelic Imbalance [MESH:D022981] (1120) 
 Loss of Heterozygosity [MESH:D019656] (1119) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Chromosome Aberrations [MESH:D002869] (1297) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Sequence Deletion [MESH:D017384] (1120) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)
 Ploidies [MESH:D011003] (1227) 
 Aneuploidy [MESH:D000782] (1220) 
 Monosomy [MESH:D009006] (1121) 
 Chromosome Deletion [MESH:D002872] (1117) 
 Hypotonia-Cystinuria Syndrome [MESH:C564710] (52)