Item 12 of 33 (back to results) previous next   S-2-pentyl-4-pentynoic hydroxamic acid C513635

Current search: C05. Musculoskeletal Diseases: Musculoskeletal Diseases [MESH:D009140] > Musculoskeletal Abnormalities [MESH:D009139] > Craniofacial Abnormalities [MESH:D019465] > Maxillofacial Abnormalities [MESH:D019767] > Jaw Abnormalities [MESH:D007569] > Cleft Palate [MESH:D002972] > Popliteal Pterygium Syndrome [MESH:C562509] × Select any link to see items in a related category. more general categories    information about this item A. Anatomy  A. Anatomy  Body Regions [MESH:D001829] (867)   Extremities [MESH:D005121] (484)   Upper Extremity [MESH:D034941] (441)   Hand [MESH:D006225] (428)   Fingers [MESH:D005385] (422)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Thumb [MESH:D013933] (54)   Townes-Brocks syndrome [MESH:C536974] (28)  Head [MESH:D006257] (523)   Face [MESH:D005145] (387)   Coffin-Siris syndrome [MESH:C536436] (102)  Eye [MESH:D005123] (148)   Eyelids [MESH:D005143] (143)   Eyelashes [MESH:D005140] (30)   Lymphedema distichiasis syndrome [MESH:C537710] (24)  Mouth [MESH:D009055] (40)   Lip [MESH:D008046] (39)   Van der Woude syndrome [MESH:C536528] (33)  Neck [MESH:D009333] (107)   Coffin-Siris syndrome [MESH:C536436] (102)  Musculoskeletal System [MESH:D009141] (1255)   Skeleton [MESH:D012863] (1177)   Bone and Bones [MESH:D001842] (1112)   Epiphyses [MESH:D004838] (98)   Wolcott-Rallison syndrome [MESH:C536739] (92)  Joints [MESH:D007596] (126)   Knee Joint [MESH:D007719] (38)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Nervous System [MESH:D009420] (587)   Central Nervous System [MESH:D002490] (371)   Brain [MESH:D001921] (349)   Brain Stem [MESH:D001933] (120)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Sense Organs [MESH:D012679] (1060)   Eye [MESH:D005123] (858)   Eyelids [MESH:D005143] (146)   Eyelashes [MESH:D005140] (30)   Lymphedema distichiasis syndrome [MESH:C537710] (24)  Stomatognathic System [MESH:D013284] (673)   Mouth [MESH:D009055] (194)   Lip [MESH:D008046] (42)   Van der Woude syndrome [MESH:C536528] (33)  Integumentary System [MESH:D034582] (104)   Hair [MESH:D006197] (75)   Eyelashes [MESH:D005140] (30)   Lymphedema distichiasis syndrome [MESH:C537710] (24) C01. Bacterial Infections and Mycoses  C01. Bacterial Infections and Mycoses  Infection [MESH:D007239] (4109)   Sepsis [MESH:D018805] (3556)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  Toxemia [MESH:D014115] (1290)   Endotoxemia [MESH:D019446] (1289) C02. Virus Diseases  C02. Virus Diseases  Virus Diseases [MESH:D014777] (4544)   DNA Virus Infections [MESH:D004266] (2474)   Herpesviridae Infections [MESH:D006566] (1944)   Epstein-Barr Virus Infections [MESH:D020031] (695)   Burkitt Lymphoma [MESH:D002051] (691)  RNA Virus Infections [MESH:D012327] (4215)   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)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691) C04. Neoplasms  C04. Neoplasms  Neoplasms [MESH:D009369] (10293)   Precancerous Conditions [MESH:D011230] (2858)  Cysts [MESH:D003560] (2625)   Polycystic liver disease [MESH:C536330] (50)  Van der Woude syndrome [MESH:C536528] (33)  Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Hamartoma [MESH:D006222] (1484)   Hamartoma Syndrome, Multiple [MESH:D006223] (262)  Tuberous Sclerosis [MESH:D014402] (635)  Neoplasms by Histologic Type [MESH:D009370] (8793)   Leukemia [MESH:D007938] (4576)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Leukemia, Myeloid [MESH:D007951] (2773)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Leukemia, Myeloid, Acute [MESH:D015470] (2176)  Leukemia, Myelomonocytic, Acute [MESH:D015479] (85)  Lymphatic Vessel Tumors [MESH:D018190] (171)   Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3686)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3337)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1405)   Lymphoma, Extranodal NK-T-Cell [MESH:D054391] (132)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  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)   Neoplasms, Bone Tissue [MESH:D018213] (2217)   Osteosarcoma [MESH:D012516] (2175)  Neoplasms, Muscle Tissue [MESH:D009379] (1965)   Leiomyoma [MESH:D007889] (744)  Myosarcoma [MESH:D009217] (790)   Rhabdomyosarcoma [MESH:D012208] (789)   Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)  Perivascular Epithelioid Cell Neoplasms [MESH:D054973] (165)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Sarcoma [MESH:D012509] (4246)   Osteosarcoma [MESH:D012516] (2175)  Liposarcoma [MESH:D008080] (612)   Liposarcoma, Myxoid [MESH:D018208] (358)  Myosarcoma [MESH:D009217] (790)   Rhabdomyosarcoma [MESH:D012208] (789)   Rhabdomyosarcoma, Embryonal [MESH:D018233] (98)  Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126)   Neuroectodermal Tumors [MESH:D017599] (5066)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  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)   Carcinoma, Neuroendocrine [MESH:D018278] (262)   Vipoma [MESH:D003969] (110)  Melanoma [MESH:D008545] (3508)   Melanoma, Experimental [MESH:D008546] (210)  Paraganglioma [MESH:D010235] (297)   Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Glandular and Epithelial [MESH:D009375] (7760)   Adenoma [MESH:D000236] (4051)   Mesothelioma [MESH:D008654] (2567)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Adenomatous Polyps [MESH:D018256] (1571)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Carcinoma [MESH:D002277] (7263)   Thyroid cancer, papillary [MESH:C536915] (111)  Carcinoma, Transitional Cell [MESH:D002295] (2662)  Adenocarcinoma [MESH:D000230] (6565)   Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Carcinoma, Adenoid Cystic [MESH:D003528] (1561)  Carcinoma, Hepatocellular [MESH:D006528] (5375)  Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500)  Carcinoma, Lobular [MESH:D018275] (305)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Cholangiocarcinoma [MESH:D018281] (2398)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Carcinoma, Islet Cell [MESH:D018273] (30)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Carcinoma, Neuroendocrine [MESH:D018278] (262)   Vipoma [MESH:D003969] (110)  Carcinoma, Squamous Cell [MESH:D002294] (4294)   Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)  Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Bowen's Disease [MESH:D001913] (247)  Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831)   Carcinoma, Intraductal, Noninfiltrating [MESH:D002285] (500)  Carcinoma, Lobular [MESH:D018275] (305)  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)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  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)  Bowen's Disease [MESH:D001913] (247)  Neoplasms, Nerve Tissue [MESH:D009380] (5201)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Neuroectodermal Tumors [MESH:D017599] (5059)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Retinoblastoma [MESH:D012175] (319)  Glioma [MESH:D005910] (4261)   Gliosarcoma [MESH:D018316] (880)  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)   Melanoma, Experimental [MESH:D008546] (210)  Paraganglioma [MESH:D010235] (297)   Pheochromocytoma [MESH:D010673] (275)  Neoplasms, Plasma Cell [MESH:D054219] (2772)   Multiple Myeloma [MESH:D009101] (2767)  Neoplasms, Vascular Tissue [MESH:D009383] (2959)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Nevi and Melanomas [MESH:D018326] (3572)   Melanoma [MESH:D008545] (3508)   Melanoma, Experimental [MESH:D008546] (210)  Neoplasms by Site [MESH:D009371] (9169)   Skin Neoplasms [MESH:D012878] (2992)  Breast Neoplasms [MESH:D001943] (6077)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Digestive System Neoplasms [MESH:D004067] (7487)   Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Gastrointestinal Neoplasms [MESH:D005770] (6452)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Intestinal Neoplasms [MESH:D007414] (5358)   Colorectal Neoplasms [MESH:D015179] (5294)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  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)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Carcinoma, Islet Cell [MESH:D018273] (115)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Vipoma [MESH:D003969] (110)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 1 [MESH:D018761] (26)  Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Carcinoma, Islet Cell [MESH:D018273] (115)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Vipoma [MESH:D003969] (110)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  Eye Neoplasms [MESH:D005134] (400)   Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  Head and Neck Neoplasms [MESH:D006258] (4612)   Carcinoma, squamous cell of head and neck [MESH:C535575] (1543)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  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)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Thoracic Neoplasms [MESH:D013899] (6032)   Respiratory Tract Neoplasms [MESH:D012142] (6020)   Lung Neoplasms [MESH:D008175] (6015)   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)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)  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)  Melanoma, Experimental [MESH:D008546] (210)  Tumor Virus Infections [MESH:D014412] (697)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691)  Neoplasms, Multiple Primary [MESH:D009378] (961)   Hamartoma Syndrome, Multiple [MESH:D006223] (262)  Tuberous Sclerosis [MESH:D014402] (635)  Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 1 [MESH:D018761] (26)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Neoplasm Metastasis [MESH:D009362] (4441)   Lymphatic Metastasis [MESH:D008207] (917)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Meningioma, familial [MESH:C537443] (195)  Juvenile polyposis syndrome [MESH:C537702] (196)  Hamartoma Syndrome, Multiple [MESH:D006223] (260)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Tuberous Sclerosis [MESH:D014402] (635)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 1 [MESH:D018761] (26)  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)   Bone Resorption [MESH:D001862] (2352)  Bone Diseases, Developmental [MESH:D001848] (3315)   Dwarfism [MESH:D004392] (778)   Congenital Hypothyroidism [MESH:D003409] (266)   Thyroid Dyshormonogenesis 1 [MESH:C564766] (79)  Hypothyroidism, Congenital, Nongoitrous, 5 [MESH:C567123] (24)  Dysostoses [MESH:D004413] (1019)   Craniofacial Dysostosis [MESH:D003394] (391)   Hallermann's Syndrome [MESH:D006210] (193)  Mandibulofacial Dysostosis [MESH:D008342] (63)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Osteochondrodysplasias [MESH:D010009] (2440)   Marshall syndrome [MESH:C536025] (52)  Wolcott-Rallison syndrome [MESH:C536739] (92)  Cleidocranial Dysplasia [MESH:D002973] (129)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Osteosclerosis [MESH:D010026] (356)   Osteopetrosis [MESH:D010022] (318)   Osteopetrosis, Autosomal Recessive 1 [MESH:C564915] (29)  Osteopetrosis, Autosomal Recessive 5 [MESH:C566883] (16)  Bone Diseases, Endocrine [MESH:D001849] (747)   Congenital Hypothyroidism [MESH:D003409] (266)   Thyroid Dyshormonogenesis 1 [MESH:C564766] (79)  Hypothyroidism, Congenital, Nongoitrous, 5 [MESH:C567123] (24)  Bone Diseases, Metabolic [MESH:D001851] (3492)   Mucolipidoses [MESH:D009081] (78)  Osteoporosis [MESH:D010024] (3037)   Osteoporosis, Postmenopausal [MESH:D015663] (2351)  Spinal Diseases [MESH:D013122] (2485)   Intervertebral Disc Degeneration [MESH:D055959] (827)   Intervertebral disc disease [MESH:C535531] (514)  Intervertebral Disc Displacement [MESH:D007405] (520)   Intervertebral disc disease [MESH:C535531] (514)  Foot Deformities [MESH:D005530] (553)   Foot Deformities, Congenital [MESH:D005532] (538)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Hand Deformities [MESH:D006226] (590)   Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Coffin-Siris syndrome [MESH:C536436] (102)  Jaw Diseases [MESH:D007571] (1601)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Joint Diseases [MESH:D007592] (4657)   Arthritis [MESH:D001168] (4416)   Arthritis, Experimental [MESH:D001169] (3142)  Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)  Muscular Diseases [MESH:D009135] (4071)   Muscle Rigidity [MESH:D009127] (617)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Muscular Disorders, Atrophic [MESH:D020966] (1598)   Muscular Dystrophies [MESH:D009136] (1593)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Myotonic Dystrophy [MESH:D009223] (48)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2E [MESH:C535902] (24)  Myopathies, Structural, Congenital [MESH:D020914] (272)   Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Myopathy, Central Core [MESH:D020512] (54)  Myotonic Disorders [MESH:D020967] (138)   Dystrophia myotonica 2 [MESH:C538009] (34)  Myotonic Dystrophy [MESH:D009223] (48)  Rhabdomyolysis [MESH:D012206] (465)   Myoglobinuria [MESH:D009212] (96)   Myoglobinuria, Acute Recurrent, Autosomal Recessive [MESH:C564832] (64)  Musculoskeletal Abnormalities [MESH:D009139] (3796)   Craniofacial Abnormalities [MESH:D019465] (3098)   Marshall syndrome [MESH:C536025] (52)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Microcephaly [MESH:D008831] (700)  Cleidocranial Dysplasia [MESH:D002973] (129)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Craniofacial Dysostosis [MESH:D003394] (391)   Hallermann's Syndrome [MESH:D006210] (193)  Mandibulofacial Dysostosis [MESH:D008342] (63)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Limb Deformities, Congenital [MESH:D017880] (1813)   Lower Extremity Deformities, Congenital [MESH:D038061] (560)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Foot Deformities, Congenital [MESH:D005532] (538)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Polydactyly [MESH:D017689] (318)   McKusick Kaufman syndrome [MESH:C538159] (17)  Syndactyly [MESH:D013576] (487)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Upper Extremity Deformities, Congenital [MESH:D038062] (604)   Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Coffin-Siris syndrome [MESH:C536436] (102)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Acrocephalosyndactylia [MESH:D000168] (201)   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)   Bile acid synthesis defect, congenital, 1 [MESH:C535442] (25)  Cholestasis, Intrahepatic [MESH:D002780] (1510)   Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Gallbladder Diseases [MESH:D005705] (1215)   Gallbladder Neoplasms [MESH:D005706] (993)  Digestive System Abnormalities [MESH:D004065] (2127)   Anus, Imperforate [MESH:D001006] (140)   Oculootoradial syndrome [MESH:C535544] (14)  Townes-Brocks syndrome [MESH:C536974] (28)  Hirschsprung Disease [MESH:D006627] (361)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Waardenburg Syndrome, Type 4c [MESH:C567679] (17)  Digestive System Neoplasms [MESH:D004067] (7493)   Biliary Tract Neoplasms [MESH:D001661] (1165)   Gallbladder Neoplasms [MESH:D005706] (993)  Gastrointestinal Neoplasms [MESH:D005770] (6460)   Stomach Neoplasms [MESH:D013274] (4942)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  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)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Carcinoma, Islet Cell [MESH:D018273] (115)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Vipoma [MESH:D003969] (110)  Gastrointestinal Diseases [MESH:D005767] (7443)   Esophageal Diseases [MESH:D004935] (4255)   Deglutition Disorders [MESH:D003680] (1538)   Esophageal Motility Disorders [MESH:D015154] (1489)   Esophageal Achalasia [MESH:D004931] (29)   Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)  Esophageal Neoplasms [MESH:D004938] (3737)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  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)  Adenocarcinoma Of Esophagus [MESH:C562730] (1530)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  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)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Megacolon [MESH:D008531] (386)   Hirschsprung Disease [MESH:D006627] (361)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Waardenburg Syndrome, Type 4c [MESH:C567679] (17)  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)   Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Intestinal Polyposis [MESH:D044483] (1610)   Juvenile polyposis syndrome [MESH:C537702] (196)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Rectal Diseases [MESH:D012002] (4596)   Colorectal Neoplasms [MESH:D015179] (4534)  Peptic Ulcer [MESH:D010437] (3172)   Stomach Ulcer [MESH:D013276] (2915)  Stomach Diseases [MESH:D013272] (5325)   Stomach Neoplasms [MESH:D013274] (4942)  Peptic Ulcer [MESH:D010437] (2994)   Stomach Ulcer [MESH:D013276] (2915)  Liver Diseases [MESH:D008107] (8167)   Polycystic liver disease [MESH:C536330] (50)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Fatty Liver [MESH:D005234] (3584)  Hepatitis [MESH:D006505] (3883)  Zellweger Syndrome [MESH:D015211] (182)  Cholestasis, Intrahepatic [MESH:D002780] (1510)   Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Hepatic Insufficiency [MESH:D048550] (2771)   Liver Failure [MESH:D017093] (2768)   Liver Failure, Acute [MESH:D017114] (2404)  Liver Cirrhosis [MESH:D008103] (5542)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Liver Cirrhosis, Experimental [MESH:D008106] (4589)  Liver Diseases, Alcoholic [MESH:D008108] (3243)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Diseases [MESH:D010182] (4453)   Cystic Fibrosis [MESH:D003550] (760)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Carcinoma, Islet Cell [MESH:D018273] (115)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Vipoma [MESH:D003969] (110) 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)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Diseases [MESH:D009059] (4783)   Behcet Syndrome [MESH:D001528] (1784)  Lip Diseases [MESH:D008047] (924)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Periodontal Diseases [MESH:D010510] (1001)   Periodontitis [MESH:D010518] (843)   Chronic Periodontitis [MESH:D055113] (231)  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)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Tooth Abnormalities [MESH:D014071] (622)   Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Tooth Diseases [MESH:D014076] (742)   Tooth Abnormalities [MESH:D014071] (622)   Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192) C08. Respiratory Tract Diseases  C08. Respiratory Tract Diseases  Respiratory Tract Diseases [MESH:D012140] (7881)   Thoracic Diseases [MESH:D013896] (81)  Bronchial Diseases [MESH:D001982] (4382)   Asthma [MESH:D001249] (4098)   Asthma, Aspirin-Induced [MESH:D055963] (1055)  Bronchiectasis [MESH:D001987] (1792)   Bronchiectasis With Or Without Elevated Sweat Chloride 2 [MESH:C567813] (77)  Ciliary Motility Disorders [MESH:D002925] (104)   Ciliary Dyskinesia, Primary, 12 [MESH:C567211] (11)  Lung Diseases [MESH:D008171] (7249)   Cystic Fibrosis [MESH:D003550] (760)  Pneumonia [MESH:D011014] (3482)  Pulmonary Edema [MESH:D011654] (2109)  Pulmonary Embolism [MESH:D011655] (1118)  Pulmonary Fibrosis [MESH:D011658] (3140)  Lung Diseases, Interstitial [MESH:D017563] (2966)   Surfactant Metabolism Dysfunction, Pulmonary, 3 [MESH:C567046] (24)  Lung Diseases, Obstructive [MESH:D008173] (4697)   Asthma [MESH:D001249] (3903)  Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564)   Pulmonary Emphysema [MESH:D011656] (1259)  Lung Injury [MESH:D055370] (3688)   Acute Lung Injury [MESH:D055371] (1907)  Lung Neoplasms [MESH:D008175] (6012)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Pulmonary Alveolar Proteinosis [MESH:D011649] (139)   Surfactant Metabolism Dysfunction, Pulmonary, 3 [MESH:C567046] (24)  Nose Diseases [MESH:D009668] (1504)   Paranasal Sinus Diseases [MESH:D010254] (476)   Sinusitis [MESH:D012852] (469)  Respiration Disorders [MESH:D012120] (2218)   Respiratory Insufficiency [MESH:D012131] (841)  Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2E [MESH:C535902] (24)  Respiratory Hypersensitivity [MESH:D012130] (4401)   Asthma [MESH:D001249] (4098)   Asthma, Aspirin-Induced [MESH:D055963] (1055)  Respiratory Tract Infections [MESH:D012141] (3926)   Pneumonia [MESH:D011014] (3482)  Sinusitis [MESH:D012852] (469)  Respiratory Tract Neoplasms [MESH:D012142] (6053)   Lung Neoplasms [MESH:D008175] (6013)   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)   Ciliary Motility Disorders [MESH:D002925] (104)   Ciliary Dyskinesia, Primary, 12 [MESH:C567211] (11)  Ear Diseases [MESH:D004427] (2522)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Deafness [MESH:D003638] (623)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Marshall syndrome [MESH:C536025] (52)  Townes-Brocks syndrome [MESH:C536974] (28)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 2B [MESH:C567214] (18)  Deafness, Autosomal Dominant 2A [MESH:C567441] (36)  Nose Diseases [MESH:D009668] (1504)   Paranasal Sinus Diseases [MESH:D010254] (476)   Sinusitis [MESH:D012852] (469) 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)  Basal Ganglia Diseases [MESH:D001480] (4268)   Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Brain Diseases, Metabolic [MESH:D001928] (3351)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Cerebellar Diseases [MESH:D002526] (736)   Joubert syndrome 3 [MESH:C536295] (11)  Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Cerebrovascular Disorders [MESH:D002561] (5542)   Brain Ischemia [MESH:D002545] (4873)   Ischemic Attack, Transient [MESH:D002546] (1313)  Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Hypoxia-Ischemia, Brain [MESH:D020925] (33)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Cerebral Small Vessel Diseases [MESH:D059345] (1292)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Intracranial Arterial Diseases [MESH:D020765] (2463)   Cerebral Arterial Diseases [MESH:D002539] (2440)   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)  Frontotemporal Lobar Degeneration [MESH:D057174] (310)   Frontotemporal Dementia [MESH:D057180] (300)  Epilepsy [MESH:D004827] (6274)   Amish Infantile Epilepsy Syndrome [MESH:C563799] (46)  Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Status Epilepticus [MESH:D013226] (4014)  Epilepsy, Generalized [MESH:D004829] (1431)   Epilepsy, Absence [MESH:D004832] (222)  Spasms, Infantile [MESH:D013036] (468)  Seizures [MESH:D012640] (4502)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Hypothalamic Diseases [MESH:D007027] (1833)   Bardet-Biedl Syndrome [MESH:D020788] (110)  Hypoxia, Brain [MESH:D002534] (134)   Hypoxia-Ischemia, Brain [MESH:D020925] (33)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Leukoencephalopathies [MESH:D056784] (1916)   Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Neuroaxonal Dystrophies [MESH:D019150] (100)   Neurodegeneration Due To Cerebral Folate Transport Deficiency [MESH:C567791] (53)  Movement Disorders [MESH:D009069] (4823)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Dyskinesias [MESH:D020820] (1827)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Dystonic Disorders [MESH:D020821] (729)   Dystonia 12 [MESH:C538001] (36)  Dystonia, Dopa-responsive [MESH:C538007] (98)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Ocular Motility Disorders [MESH:D015835] (364)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Joubert syndrome 3 [MESH:C536295] (11)  Spinal Cord Diseases [MESH:D013118] (4376)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 11 [MESH:C567244] (18)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Cranial Nerve Diseases [MESH:D003389] (2004)   Ocular Motility Disorders [MESH:D015835] (1697)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Joubert syndrome 3 [MESH:C536295] (11)  Duane Retraction Syndrome [MESH:D004370] (43)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Optic Nerve Diseases [MESH:D009901] (1375)   Optic Atrophy [MESH:D009896] (1203)   Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Demyelinating Diseases [MESH:D003711] (2917)   Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Nervous System Malformations [MESH:D009421] (3354)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Charcot-Marie-Tooth Disease, Type 4j [MESH:C566984] (18)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 3, autosomal dominant [MESH:C536864] (24)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)  Tuberous Sclerosis [MESH:D014402] (635)  Neural Tube Defects [MESH:D009436] (2143)   Meningomyelocele [MESH:D008591] (100)  Encephalocele [MESH:D004677] (151)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Parietal Foramina [MESH:C566826] (42)  Nervous System Neoplasms [MESH:D009423] (3073)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)   Meningioma, familial [MESH:C537443] (195)  Neurocutaneous Syndromes [MESH:D020752] (1230)   Tuberous Sclerosis [MESH:D014402] (635)  Neurodegenerative Diseases [MESH:D019636] (6613)   Familial apoceruloplasmin deficiency [MESH:C536004] (211)  Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)  Parkinson Disease [MESH:D010300] (3595)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Myotonic Dystrophy [MESH:D009223] (48)  Tuberous Sclerosis [MESH:D014402] (635)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Charcot-Marie-Tooth Disease, Type 4j [MESH:C566984] (18)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 3, autosomal dominant [MESH:C536864] (24)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 11 [MESH:C567244] (18)  Tauopathies [MESH:D024801] (4289)   Alzheimer Disease [MESH:D000544] (4275)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 11 [MESH:C567244] (18)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Neurologic Manifestations [MESH:D009461] (8964)   Pain [MESH:D010146] (3875)  Dyskinesias [MESH:D020820] (3365)   Catalepsy [MESH:D002375] (1429)  Dystonia [MESH:D004421] (848)  Hypokinesia [MESH:D018476] (279)  Tremor [MESH:D014202] (840)  Ataxia [MESH:D001259] (1138)   Cerebellar Ataxia [MESH:D002524] (542)   Spinocerebellar Ataxias [MESH:D020754] (406)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Neurobehavioral Manifestations [MESH:D019954] (5230)   Psychomotor Disorders [MESH:D011596] (576)  Communication Disorders [MESH:D003147] (2918)   Language Disorders [MESH:D007806] (653)   Language Development Disorders [MESH:D007805] (351)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Learning Disorders [MESH:D007859] (2727)   Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Consciousness Disorders [MESH:D003244] (680)   Unconsciousness [MESH:D014474] (660)   Stupor [MESH:D053608] (103)  Coma [MESH:D003128] (524)   Coma, Post-Head Injury [MESH:D020207] (55)  Memory Disorders [MESH:D008569] (3233)   Amnesia [MESH:D000647] (1911)  Intellectual Disability [MESH:D008607] (3054)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Coffin-Siris syndrome [MESH:C536436] (102)  Williams Syndrome [MESH:D018980] (133)  Mental Retardation, X-Linked [MESH:D038901] (1854)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Adrenoleukodystrophy [MESH:D000326] (1348)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Hypertonia [MESH:D009122] (775)   Muscle Rigidity [MESH:D009127] (617)  Muscle Hypotonia [MESH:D009123] (258)   Joubert syndrome 3 [MESH:C536295] (11)  Paralysis [MESH:D010243] (2043)   Hemiplegia [MESH:D006429] (184)   Alternating hemiplegia of childhood [MESH:C536589] (70)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Seizures [MESH:D012640] (4514)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Sensation Disorders [MESH:D012678] (5011)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Deafness [MESH:D003638] (623)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Marshall syndrome [MESH:C536025] (52)  Townes-Brocks syndrome [MESH:C536974] (28)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 2B [MESH:C567214] (18)  Deafness, Autosomal Dominant 2A [MESH:C567441] (36)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Vision Disorders [MESH:D014786] (501)   Blindness [MESH:D001766] (252)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Neuromuscular Diseases [MESH:D009468] (7336)   Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 11 [MESH:C567244] (18)  Muscular Diseases [MESH:D009135] (3538)   Muscular Disorders, Atrophic [MESH:D020966] (1594)   Muscular Dystrophies [MESH:D009136] (1589)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Myotonic Dystrophy [MESH:D009223] (48)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2E [MESH:C535902] (24)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Myopathies, Structural, Congenital [MESH:D020914] (272)   Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Myopathy, Central Core [MESH:D020512] (54)  Myotonic Disorders [MESH:D020967] (138)   Dystrophia myotonica 2 [MESH:C538009] (34)  Myotonic Dystrophy [MESH:D009223] (48)  Peripheral Nervous System Diseases [MESH:D010523] (6151)   Diabetic Neuropathies [MESH:D003929] (2442)  Polyneuropathies [MESH:D011115] (1134)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Charcot-Marie-Tooth Disease, Type 4j [MESH:C566984] (18)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 3, autosomal dominant [MESH:C536864] (24)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Neurotoxicity Syndromes [MESH:D020258] (4570)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912)   Arsenic Poisoning [MESH:D020261] (2540)  Sleep Disorders [MESH:D012893] (2050)   Dyssomnias [MESH:D020920] (1417)   Sleep Disorders, Intrinsic [MESH:D020919] (1270)   Disorders of Excessive Somnolence [MESH:D006970] (581)   Narcolepsy [MESH:D009290] (478)  Trauma, Nervous System [MESH:D020196] (3997)   Craniocerebral Trauma [MESH:D006259] (3507)   Brain Injuries [MESH:D001930] (3431)  Coma, Post-Head Injury [MESH:D020207] (55) C11. Eye Diseases  C11. Eye Diseases  Eye Diseases [MESH:D005128] (6245)   Corneal Diseases [MESH:D003316] (1445)   Corneal Opacity [MESH:D003318] (544)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60)  Fuchs' Endothelial Dystrophy [MESH:D005642] (86)   Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60)  Eye Abnormalities [MESH:D005124] (1233)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, syndromic 2 [MESH:C537465] (19)  Microphthalmia, Syndromic 5 [MESH:C566441] (20)  Eye Diseases, Hereditary [MESH:D015785] (1869)   Duane Retraction Syndrome [MESH:D004370] (43)  Albinism [MESH:D000417] (258)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60)  Fuchs' Endothelial Dystrophy [MESH:D005642] (86)   Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Retinitis Pigmentosa [MESH:D012174] (414)   Senior-Loken syndrome 4 [MESH:C537581] (17)  Cone Dystrophy 3 [MESH:C566579] (18)  Eye Neoplasms [MESH:D005134] (413)   Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  Lacrimal Apparatus Diseases [MESH:D007766] (644)   Dry Eye Syndromes [MESH:D015352] (533)  Lens Diseases [MESH:D007905] (900)   Cataract [MESH:D002386] (860)   Marshall syndrome [MESH:C536025] (52)  Microphthalmia, syndromic 2 [MESH:C537465] (19)  Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Ocular Hypertension [MESH:D009798] (1630)   Glaucoma [MESH:D005901] (1458)   Glaucoma, Angle-Closure [MESH:D015812] (73)  Ocular Motility Disorders [MESH:D015835] (1699)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Joubert syndrome 3 [MESH:C536295] (11)  Duane Retraction Syndrome [MESH:D004370] (43)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Optic Nerve Diseases [MESH:D009901] (1377)   Optic Atrophy [MESH:D009896] (1203)   Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Retinal Diseases [MESH:D012164] (3747)   Retinal Detachment [MESH:D012163] (1639)  Retinal Degeneration [MESH:D012162] (2386)   Macular Degeneration [MESH:D008268] (995)   Fundus Dystrophy, Pseudoinflammatory, Of Sorsby [MESH:C564992] (121)  Retinal Dystrophies [MESH:D058499] (1315)   Retinitis Pigmentosa [MESH:D012174] (1307)   Senior-Loken syndrome 4 [MESH:C537581] (17)  Cone Dystrophy 3 [MESH:C566579] (18)  Retinal Neoplasms [MESH:D019572] (320)   Retinoblastoma [MESH:D012175] (319)  Uveal Diseases [MESH:D014603] (2428)   Uveitis [MESH:D014605] (2157)   Panuveitis [MESH:D015864] (1805)   Uveitis, Anterior [MESH:D014606] (1791)   Behcet Syndrome [MESH:D001528] (1784)  Vision Disorders [MESH:D014786] (534)   Blindness [MESH:D001766] (259)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Vitreous Detachment [MESH:D020255] (53)   Stickler syndrome, type 2 [MESH:C537493] (52) C12. Male Urogenital Diseases  C12. Male Urogenital Diseases  Male Urogenital Diseases [MESH:D052801] (8891)   Genital Diseases, Male [MESH:D005832] (6794)   Penile Diseases [MESH:D010409] (1805)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)  Infertility [MESH:D007246] (2909)   Infertility, Male [MESH:D007248] (2851)  Prostatic Diseases [MESH:D011469] (6204)   Prostatic Neoplasms [MESH:D011471] (6135)  Testicular Diseases [MESH:D013733] (451)   Cryptorchidism [MESH:D003456] (215)  Urogenital Abnormalities [MESH:D014564] (2065)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cryptorchidism [MESH:D003456] (215)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Cortisone reductase deficiency [MESH:C536447] (136)  Adrenogenital Syndrome [MESH:D047808] (715)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Gonadal Dysgenesis [MESH:D006059] (492)   Dosage-sensitive sex reversal [MESH:C535601] (40)  Urogenital Neoplasms [MESH:D014565] (6932)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)  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)   Zellweger Syndrome [MESH:D015211] (182)  Diabetes Insipidus [MESH:D003919] (354)   Wolfram Syndrome [MESH:D014929] (37)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Senior-Loken syndrome 4 [MESH:C537581] (17)  Nephronophthisis 4 [MESH:C564640] (17)  Polycystic Kidney Diseases [MESH:D007690] (853)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)   Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  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)   Pseudohypoaldosteronism [MESH:D011546] (232)  Urinary Bladder Diseases [MESH:D001745] (4374)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Proteinuria [MESH:D011507] (3293) C13. Female Urogenital Diseases and Pregnancy Complications  C13. Female Urogenital Diseases and Pregnancy Complications  Z. Exceptions (1116)   Not Fully Specified [NFS] (1116)  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 Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Uterine Diseases [MESH:D014591] (2479)   McKusick Kaufman syndrome [MESH:C538159] (17)  Uterine Neoplasms [MESH:D014594] (2430)   Endometrial Neoplasms [MESH:D016889] (1984)  Vaginal Diseases [MESH:D014623] (446)   Hydrocolpos [MESH:D052202] (18)   McKusick Kaufman syndrome [MESH:C538159] (17)  Urogenital Abnormalities [MESH:D014564] (2043)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Cortisone reductase deficiency [MESH:C536447] (136)  Adrenogenital Syndrome [MESH:D047808] (715)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Gonadal Dysgenesis [MESH:D006059] (492)   Dosage-sensitive sex reversal [MESH:C535601] (40)  Urogenital Neoplasms [MESH:D014565] (5792)   Genital Neoplasms, Female [MESH:D005833] (3810)   Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Uterine Neoplasms [MESH:D014594] (2433)   Endometrial Neoplasms [MESH:D016889] (1989)  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)   Zellweger Syndrome [MESH:D015211] (182)  Diabetes Insipidus [MESH:D003919] (354)   Wolfram Syndrome [MESH:D014929] (37)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Senior-Loken syndrome 4 [MESH:C537581] (17)  Nephronophthisis 4 [MESH:C564640] (17)  Polycystic Kidney Diseases [MESH:D007690] (853)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)   Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  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)   Pseudohypoaldosteronism [MESH:D011546] (232)  Urinary Bladder Diseases [MESH:D001745] (4375)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Proteinuria [MESH:D011507] (3293)  Pregnancy Complications [MESH:D011248] (4768)   Abortion, Spontaneous [MESH:D000022] (2780)  Hypertension, Pregnancy-Induced [MESH:D046110] (1453)   Pre-Eclampsia [MESH:D011225] (1435) C14. Cardiovascular Diseases  C14. Cardiovascular Diseases  Z. Exceptions (2667)   Not Fully Specified [NFS] (2667)  Cardiovascular Diseases [MESH:D002318] (10123)   Cardiovascular Abnormalities [MESH:D018376] (3153)   Heart Defects, Congenital [MESH:D006330] (2447)   McKusick Kaufman syndrome [MESH:C538159] (17)  Hypoplastic Left Heart Syndrome [MESH:D018636] (194)  Tetralogy of Fallot [MESH:D013771] (121)  Dextrocardia [MESH:D003914] (61)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Heart Septal Defects [MESH:D006343] (385)   Microphthalmia, syndromic 2 [MESH:C537465] (19)  Heterotaxy Syndrome [MESH:D059446] (84)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Heart Diseases [MESH:D006331] (8614)   Heart Failure [MESH:D006333] (4058)  Arrhythmias, Cardiac [MESH:D001145] (4679)   Atrial Fibrillation [MESH:D001281] (1053)  Bradycardia [MESH:D001919] (1899)  Tachycardia [MESH:D013610] (3339)  Cardiomegaly [MESH:D006332] (4081)   Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)  Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)  Cardiomyopathy, Dilated, 2a [MESH:C567505] (51)  Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51)  Cardiomyopathies [MESH:D009202] (5331)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1t [MESH:C566052] (76)  Cardiomyopathy, Dilated, 1w [MESH:C566954] (66)  Cardiomyopathy, Dilated, 2a [MESH:C567505] (51)  Cardiomyopathy, Dilated, 1FF [MESH:C567654] (51)  Cardiomyopathy, Hypertrophic [MESH:D002312] (1516)   Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)  Cardiomyopathy, Restrictive [MESH:D002313] (94)   Cardiomyopathy, Familial Restrictive, 1 [MESH:C566168] (51)  Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2E [MESH:C535902] (24)  Heart Defects, Congenital [MESH:D006330] (2443)   McKusick Kaufman syndrome [MESH:C538159] (17)  Hypoplastic Left Heart Syndrome [MESH:D018636] (194)  Tetralogy of Fallot [MESH:D013771] (121)  Dextrocardia [MESH:D003914] (61)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Heart Septal Defects [MESH:D006343] (385)   Microphthalmia, syndromic 2 [MESH:C537465] (19)  Heterotaxy Syndrome [MESH:D059446] (84)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Heart Valve Diseases [MESH:D006349] (3333)   Aortic Valve Insufficiency [MESH:D001022] (1002)  Aortic Valve Stenosis [MESH:D001024] (1742)   Aortic Stenosis, Subvalvular [MESH:D001020] (1455)   Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)  Aortic Stenosis, Supravalvular [MESH:D021921] (135)   Williams Syndrome [MESH:D018980] (133)  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 Aneurysm [MESH:D003323] (204)  Coronary Artery Disease [MESH:D003324] (2685)  Ventricular Dysfunction [MESH:D018754] (2348)   Ventricular Dysfunction, Left [MESH:D018487] (1631)  Vascular Diseases [MESH:D014652] (8691)   Hyperemia [MESH:D006940] (2372)  Hypertension [MESH:D006973] (5655)  Hypotension [MESH:D007022] (4045)  Aneurysm [MESH:D000783] (1886)   Coronary Aneurysm [MESH:D003323] (204)  Aneurysm, Ruptured [MESH:D017542] (645)   Aortic Rupture [MESH:D001019] (637)  Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Abdominal [MESH:D017544] (1519)  Aortic Rupture [MESH:D001019] (637)  Aortic Diseases [MESH:D001018] (1737)   Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Abdominal [MESH:D017544] (1519)  Aortic Rupture [MESH:D001019] (637)  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)   Brain Ischemia [MESH:D002545] (4873)   Ischemic Attack, Transient [MESH:D002546] (1313)  Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Hypoxia-Ischemia, Brain [MESH:D020925] (33)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Cerebral Small Vessel Diseases [MESH:D059345] (1292)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Intracranial Arterial Diseases [MESH:D020765] (2468)   Cerebral Arterial Diseases [MESH:D002539] (2440)   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)   Embolism [MESH:D004617] (1137)   Pulmonary Embolism [MESH:D011655] (1118)  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 Aneurysm [MESH:D003323] (204)  Coronary Artery Disease [MESH:D003324] (2685)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Vasculitis [MESH:D014657] (2604)   Behcet Syndrome [MESH:D001528] (1784) C15. Hemic and Lymphatic Diseases  C15. Hemic and Lymphatic Diseases  Z. Exceptions (453)   Not Fully Specified [NFS] (453)  Hematologic Diseases [MESH:D006402] (6174)   Anemia [MESH:D000740] (3966)   Anemia, Neonatal [MESH:D000751] (20)  Anemia, Hemolytic [MESH:D000743] (3083)   Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Elliptocytosis, Hereditary [MESH:D004612] (95)  Spherocytosis, Hereditary [MESH:D013103] (137)  Thalassemia [MESH:D013789] (501)   alpha-Thalassemia [MESH:D017085] (176)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Hemoglobinuria, Paroxysmal [MESH:D006457] (293)   Glycosylphosphatidylinositol deficiency [MESH:C537277] (61)  Blood Coagulation Disorders [MESH:D001778] (1828)   Blood Coagulation Disorders, Inherited [MESH:D025861] (720)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Purpura [MESH:D011693] (475)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Blood Platelet Disorders [MESH:D001791] (3174)   Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Thrombocytopenia [MESH:D013921] (2966)   Oculootoradial syndrome [MESH:C535544] (14)  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)   Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Hemoglobinuria, Paroxysmal [MESH:D006457] (293)   Glycosylphosphatidylinositol deficiency [MESH:C537277] (61)  Myeloproliferative Disorders [MESH:D009196] (1492)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Hemoglobinopathies [MESH:D006453] (1863)   Thalassemia [MESH:D013789] (511)   alpha-Thalassemia [MESH:D017085] (192)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Hemorrhagic Disorders [MESH:D006474] (3359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Hemostatic Disorders [MESH:D020141] (2932)   Multiple Myeloma [MESH:D009101] (2765)  Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Leukocyte Disorders [MESH:D007960] (2662)   Phagocyte Bactericidal Dysfunction [MESH:D010585] (998)   Job Syndrome [MESH:D007589] (772)   Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)  Methemoglobinemia [MESH:D008708] (850)   NADH cytochrome B5 reductase deficiency [MESH:C537841] (66)  Lymphatic Diseases [MESH:D008206] (5167)   Lymphedema [MESH:D008209] (162)   Lymphedema distichiasis syndrome [MESH:C537710] (24)  Lymphedema, Hereditary, II [MESH:C562467] (24)  Lymphoproliferative Disorders [MESH:D008232] (4638)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Splenic Diseases [MESH:D013158] (1323)   Heterotaxy Syndrome [MESH:D059446] (84)   Heterotaxy, visceral, X-linked [MESH:C538116] (22) 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, Drug-Induced [MESH:D000014] (1024)  Abnormalities, Multiple [MESH:D000015] (3192)   Oculootoradial syndrome [MESH:C535544] (14)  Coffin-Siris syndrome [MESH:C536436] (102)  Van der Woude syndrome [MESH:C536528] (33)  Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Townes-Brocks syndrome [MESH:C536974] (28)  McKusick Kaufman syndrome [MESH:C538159] (17)  Bardet-Biedl Syndrome [MESH:D020788] (110)  Wolfram Syndrome [MESH:D014929] (37)  Zellweger Syndrome [MESH:D015211] (182)  Deaf-Blind Disorders [MESH:D054062] (132)   Wolfram Syndrome [MESH:D014929] (37)  Ectodermal Dysplasia [MESH:D004476] (938)   Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Heterotaxy Syndrome [MESH:D059446] (84)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Waardenburg Syndrome [MESH:D014849] (243)   Waardenburg syndrome type 2 [MESH:C536463] (55)  Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Waardenburg Syndrome, Type 4c [MESH:C567679] (17)  Cardiovascular Abnormalities [MESH:D018376] (3294)   Heart Defects, Congenital [MESH:D006330] (2611)   McKusick Kaufman syndrome [MESH:C538159] (17)  Hypoplastic Left Heart Syndrome [MESH:D018636] (194)  Tetralogy of Fallot [MESH:D013771] (121)  Dextrocardia [MESH:D003914] (61)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Heart Septal Defects [MESH:D006343] (385)   Microphthalmia, syndromic 2 [MESH:C537465] (19)  Heterotaxy Syndrome [MESH:D059446] (84)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Chromosome Disorders [MESH:D025063] (2030)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)  Williams Syndrome [MESH:D018980] (133)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Digestive System Abnormalities [MESH:D004065] (507)   Anus, Imperforate [MESH:D001006] (140)   Oculootoradial syndrome [MESH:C535544] (14)  Townes-Brocks syndrome [MESH:C536974] (28)  Hirschsprung Disease [MESH:D006627] (361)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Waardenburg Syndrome, Type 4c [MESH:C567679] (17)  Eye Abnormalities [MESH:D005124] (1233)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, syndromic 2 [MESH:C537465] (19)  Microphthalmia, Syndromic 5 [MESH:C566441] (20)  Musculoskeletal Abnormalities [MESH:D009139] (3779)   Craniofacial Abnormalities [MESH:D019465] (3064)   Marshall syndrome [MESH:C536025] (52)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Microcephaly [MESH:D008831] (700)  Cleidocranial Dysplasia [MESH:D002973] (129)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Craniofacial Dysostosis [MESH:D003394] (391)   Hallermann's Syndrome [MESH:D006210] (193)  Mandibulofacial Dysostosis [MESH:D008342] (63)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Maxillofacial Abnormalities [MESH:D019767] (1448)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Limb Deformities, Congenital [MESH:D017880] (1813)   Foot Deformities, Congenital [MESH:D005532] (538)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Hand Deformities, Congenital [MESH:D006228] (587)   Oculootoradial syndrome [MESH:C535544] (14)  Coffin-Siris syndrome [MESH:C536436] (102)  Lower Extremity Deformities, Congenital [MESH:D038061] (81)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Polydactyly [MESH:D017689] (318)   McKusick Kaufman syndrome [MESH:C538159] (17)  Syndactyly [MESH:D013576] (487)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Craniosynostosis, Type 2 [MESH:C565753] (36)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Syndactyly, type 3 [MESH:C538154] (192)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Nervous System Malformations [MESH:D009421] (3354)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Charcot-Marie-Tooth Disease, Type 4j [MESH:C566984] (18)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 3, autosomal dominant [MESH:C536864] (24)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)  Tuberous Sclerosis [MESH:D014402] (635)  Neural Tube Defects [MESH:D009436] (2143)   Meningomyelocele [MESH:D008591] (100)  Encephalocele [MESH:D004677] (151)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Parietal Foramina [MESH:C566826] (42)  Situs Inversus [MESH:D012857] (88)   Dextrocardia [MESH:D003914] (61)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Skin Abnormalities [MESH:D012868] (1723)   Dyskeratosis Congenita [MESH:D019871] (185)  Ectodermal Dysplasia [MESH:D004476] (958)   Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Tooth Abnormalities [MESH:D014071] (622)   Oculodentodigital Dysplasia [MESH:C563160] (192)  Oculodentodigital Dysplasia, Autosomal Recessive [MESH:C567605] (192)  Urogenital Abnormalities [MESH:D014564] (2064)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cryptorchidism [MESH:D003456] (215)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Cortisone reductase deficiency [MESH:C536447] (136)  Adrenogenital Syndrome [MESH:D047808] (715)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Gonadal Dysgenesis [MESH:D006059] (492)   Dosage-sensitive sex reversal [MESH:C535601] (40)  Genetic Diseases, Inborn [MESH:D030342] (9766)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Cystic Fibrosis [MESH:D003550] (760)  Yellow Nail Syndrome [MESH:D056684] (25)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Elliptocytosis, Hereditary [MESH:D004612] (95)  Spherocytosis, Hereditary [MESH:D013103] (137)  Thalassemia [MESH:D013789] (501)   alpha-Thalassemia [MESH:D017085] (176)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Blood Coagulation Disorders, Inherited [MESH:D025861] (722)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Cardiomyopathy, Hypertrophic, Familial [MESH:D024741] (339)   Cardiomyopathy, Familial Hypertrophic, 15 [MESH:C567681] (66)  Chromosome Disorders [MESH:D025063] (2030)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)  Williams Syndrome [MESH:D018980] (133)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Dwarfism [MESH:D004392] (783)   Congenital Hypothyroidism [MESH:D003409] (266)   Thyroid Dyshormonogenesis 1 [MESH:C564766] (79)  Hypothyroidism, Congenital, Nongoitrous, 5 [MESH:C567123] (24)  Eye Diseases, Hereditary [MESH:D015785] (1867)   Duane Retraction Syndrome [MESH:D004370] (43)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Corneal Dystrophy, Posterior Polymorphous, 3 [MESH:C563788] (60)  Fuchs' Endothelial Dystrophy [MESH:D005642] (86)   Corneal Dystrophy, Fuchs Endothelial, 6 [MESH:C567675] (60)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Retinitis Pigmentosa [MESH:D012174] (442)   Senior-Loken syndrome 4 [MESH:C537581] (17)  Cone Dystrophy 3 [MESH:C566579] (18)  Genetic Diseases, X-Linked [MESH:D040181] (3028)   Heterotaxy, visceral, X-linked [MESH:C538116] (22)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Dyskeratosis Congenita [MESH:D019871] (185)  Mental Retardation, X-Linked [MESH:D038901] (1867)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Adrenoleukodystrophy [MESH:D000326] (1348)  Hemoglobinopathies [MESH:D006453] (1863)   Thalassemia [MESH:D013789] (511)   alpha-Thalassemia [MESH:D017085] (192)   ATR-X syndrome [MESH:C538258] (59)  Alpha-Thalassemia Myelodysplasia Syndrome [MESH:C563023] (59)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465)   Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease [MESH:C563789] (17)  Myotonic Dystrophy [MESH:D009223] (48)  Tuberous Sclerosis [MESH:D014402] (635)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (241)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1F [MESH:C537987] (89)  Charcot-Marie-Tooth disease, Type 2E [MESH:C537994] (89)  Charcot-Marie-Tooth Disease, Type 4j [MESH:C566984] (18)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia 3, autosomal dominant [MESH:C536864] (24)  Spastic paraplegia 13, autosomal dominant [MESH:C537485] (178)  Mental Retardation, X-Linked [MESH:D038901] (1848)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  ATR-X syndrome [MESH:C538258] (59)  Adrenoleukodystrophy [MESH:D000326] (1348)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Optic Atrophies, Hereditary [MESH:D015418] (1151)   Wolfram Syndrome [MESH:D014929] (37)  Spinocerebellar Degenerations [MESH:D013132] (449)   Spinocerebellar ataxia 28 [MESH:C537205] (13)  Spinocerebellar Ataxias [MESH:D020754] (322)   Spinocerebellar Ataxia 11 [MESH:C565772] (14)  Metabolism, Inborn Errors [MESH:D008661] (6032)   Malonic aciduria [MESH:C535702] (31)  Coumarin Resistance [MESH:C563039] (397)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565)   succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)  Methylmalonic acidemia [MESH:C537358] (764)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Pentosuria [MESH:C536652] (43)  Mucolipidoses [MESH:D009081] (78)  Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1E [MESH:C535743] (16)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease Type III [MESH:D006010] (39)  Glycogen Storage Disease Type VI [MESH:D006013] (73)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis IV [MESH:D009085] (46)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  Lysosomal Storage Diseases [MESH:D016464] (761)   Cystinosis [MESH:D003554] (16)   Cystinosis, ocular nonnephropathic [MESH:C535765] (12)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis IV [MESH:D009085] (46)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hemochromatosis [MESH:D006432] (1694)   Hemochromatosis, type 4 [MESH:C537249] (89)  Peroxisomal Disorders [MESH:D018901] (1788)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Acatalasia [MESH:D020642] (788)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027)   Pseudohypoaldosteronism [MESH:D011546] (232)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Bile acid synthesis defect, congenital, 1 [MESH:C535442] (25)  Cortisone reductase deficiency [MESH:C536447] (136)  Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Muscular Dystrophies [MESH:D009136] (1597)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Myotonic Dystrophy [MESH:D009223] (48)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Sarcoglycanopathies [MESH:D058088] (49)   Limb-girdle muscular dystrophy, type 2E [MESH:C535902] (24)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Meningioma, familial [MESH:C537443] (195)  Juvenile polyposis syndrome [MESH:C537702] (196)  Hamartoma Syndrome, Multiple [MESH:D006223] (260)  Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Tuberous Sclerosis [MESH:D014402] (635)  Adenomatous Polyposis Coli [MESH:D011125] (1565)   Polyposis Syndrome, Hereditary Mixed, 2 [MESH:C566451] (26)  Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 1 [MESH:D018761] (26)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Skin Diseases, Genetic [MESH:D012873] (3456)   Dermatitis, Atopic [MESH:D003876] (2052)  Dyskeratosis Congenita [MESH:D019871] (185)  Erythrokeratodermia Variabilis [MESH:D056266] (26)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Ectodermal Dysplasia [MESH:D004476] (958)   Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)  Infant, Newborn, Diseases [MESH:D007232] (3064)   Anemia, Neonatal [MESH:D000751] (20)  Asphyxia Neonatorum [MESH:D001238] (1648)  Cystic Fibrosis [MESH:D003550] (760)  Ichthyosis [MESH:D007057] (476)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62) C17. Skin and Connective Tissue Diseases  C17. Skin and Connective Tissue Diseases  Connective Tissue Diseases [MESH:D003240] (4490)   Stickler syndrome, type 2 [MESH:C537493] (52)  Collagen Diseases [MESH:D003095] (1267)   Keloid [MESH:D007627] (1111)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type VIII [MESH:C536049] (17)  Mucinoses [MESH:D017520] (177)   Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis IV [MESH:D009085] (46)  Rheumatic Diseases [MESH:D012216] (3619)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Skin Diseases [MESH:D012871] (8774)   Pruritus [MESH:D011537] (647)  Skin Neoplasms [MESH:D012878] (2991)  Acneiform Eruptions [MESH:D017486] (1312)   Chloracne [MESH:D054506] (1274)  Breast Diseases [MESH:D001941] (6148)   Breast Neoplasms [MESH:D001943] (6077)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Dermatitis [MESH:D003872] (4530)   Dermatitis, Atopic [MESH:D003876] (2052)  Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Erythema [MESH:D004890] (1330)   Erythrokeratodermia Variabilis [MESH:D056266] (26)  Facial Dermatoses [MESH:D005148] (1336)   Acneiform Eruptions [MESH:D017486] (1312)   Chloracne [MESH:D054506] (1274)  Hair Diseases [MESH:D006201] (1891)   Hirsutism [MESH:D006628] (323)   Cortisone reductase deficiency [MESH:C536447] (136)  Hypotrichosis [MESH:D007039] (1513)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Hypotrichosis simplex [MESH:C537160] (92)  Keratosis [MESH:D007642] (1941)   Erythrokeratodermia Variabilis [MESH:D056266] (26)  Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)  Nail Diseases [MESH:D009260] (203)   Yellow Nail Syndrome [MESH:D056684] (25)  Pigmentation Disorders [MESH:D010859] (1215)   Yellow Nail Syndrome [MESH:D056684] (25)  Hypopigmentation [MESH:D017496] (718)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Skin Abnormalities [MESH:D012868] (1709)   Dyskeratosis Congenita [MESH:D019871] (185)  Ectodermal Dysplasia [MESH:D004476] (958)   Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)  Skin Diseases, Eczematous [MESH:D017443] (3740)   Dermatitis, Atopic [MESH:D003876] (2052)  Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Skin Diseases, Genetic [MESH:D012873] (3481)   Dermatitis, Atopic [MESH:D003876] (2052)  Dyskeratosis Congenita [MESH:D019871] (185)  Erythrokeratodermia Variabilis [MESH:D056266] (26)  Albinism [MESH:D000417] (359)   Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Ectodermal Dysplasia [MESH:D004476] (958)   Ellis-Van Creveld Syndrome [MESH:D004613] (50)   Asphyxiating Thoracic Dystrophy 2 [MESH:C566982] (18)  Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Hyperkeratosis, Epidermolytic [MESH:D017488] (136)  Ichthyosis, Lamellar [MESH:D017490] (81)   Ichthyosiform erythroderma, Brocq congenital, nonbullous form [MESH:C538603] (62)  Skin Diseases, Papulosquamous [MESH:D017444] (3392)   Psoriasis [MESH:D011565] (3278)  Skin Diseases, Vascular [MESH:D017445] (3288)   Behcet Syndrome [MESH:D001528] (1784) 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)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Calcium Metabolism Disorders [MESH:D002128] (3634)   Calcinosis [MESH:D002114] (2989)   Idiopathic basal ganglia calcification 1 [MESH:C536275] (139)  DNA Repair-Deficiency Disorders [MESH:D049914] (2245)   Nijmegen Breakage Syndrome [MESH:D049932] (42)  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 Mellitus, Type 1 [MESH:D003922] (1897)   Wolcott-Rallison syndrome [MESH:C536739] (92)  Diabetes Mellitus, Insulin-Dependent, 21 [MESH:C567285] (11)  Wolfram Syndrome [MESH:D014929] (37)  Hyperglycemia [MESH:D006943] (1858)   Glucose Intolerance [MESH:D018149] (605)  Hyperinsulinism [MESH:D006946] (3586)   Insulin Resistance [MESH:D007333] (3511)   Metabolic Syndrome X [MESH:D024821] (2151)  Iron Metabolism Disorders [MESH:D019189] (2139)   Familial apoceruloplasmin deficiency [MESH:C536004] (211)  Iron Overload [MESH:D019190] (1772)   Hemochromatosis [MESH:D006432] (1694)   Hemochromatosis, type 4 [MESH:C537249] (89)  Lipid Metabolism Disorders [MESH:D052439] (3225)   Dyslipidemias [MESH:D050171] (2428)   Hyperlipidemias [MESH:D006949] (1908)   Hypercholesterolemia [MESH:D006937] (1404)   Hypercholesterolemia, Autosomal Recessive [MESH:C566331] (9)  Hyperlipoproteinemias [MESH:D006951] (903)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  Metabolism, Inborn Errors [MESH:D008661] (6028)   Malonic aciduria [MESH:C535702] (31)  Coumarin Resistance [MESH:C563039] (397)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559)   succinic semialdehyde dehydrogenase deficiency [MESH:C535803] (42)  Methylmalonic acidemia [MESH:C537358] (764)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Leukodystrophy, Hypomyelinating, 5 [MESH:C567166] (20)  Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Adrenoleukodystrophy [MESH:D000326] (1348)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Phenylketonurias [MESH:D010661] (156)   Hyperphenylalaninemia, BH4-Deficient, B [MESH:C562656] (97)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Pentosuria [MESH:C536652] (43)  Mucolipidoses [MESH:D009081] (78)  Congenital Disorders of Glycosylation [MESH:D018981] (188)   Congenital disorder of glycosylation type 1E [MESH:C535743] (16)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease Type III [MESH:D006010] (39)  Glycogen Storage Disease Type VI [MESH:D006013] (73)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis IV [MESH:D009085] (46)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  Lysosomal Storage Diseases [MESH:D016464] (761)   Cystinosis [MESH:D003554] (16)   Cystinosis, ocular nonnephropathic [MESH:C535765] (12)  Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type [MESH:C562683] (12)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Mucolipidoses [MESH:D009081] (78)  Sphingolipidoses [MESH:D013106] (582)   Gangliosidoses [MESH:D005733] (146)   Gangliosidosis, GM1 [MESH:D016537] (40)  Mucopolysaccharidoses [MESH:D009083] (164)   Mucopolysaccharidosis IV [MESH:D009085] (46)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hemochromatosis [MESH:D006432] (1694)   Hemochromatosis, type 4 [MESH:C537249] (89)  Peroxisomal Disorders [MESH:D018901] (1788)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Acatalasia [MESH:D020642] (788)  Adrenoleukodystrophy [MESH:D000326] (1348)  Refsum Disease, Infantile [MESH:D052919] (51)  Zellweger Syndrome [MESH:D015211] (182)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026)   Pseudohypoaldosteronism [MESH:D011546] (232)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Bile acid synthesis defect, congenital, 1 [MESH:C535442] (25)  Cortisone reductase deficiency [MESH:C536447] (136)  Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Mitochondrial Diseases [MESH:D028361] (2561)   Leukodystrophy, Hypomyelinating, 4 [MESH:C567390] (178)  Mitochondrial Myopathies [MESH:D017240] (2176)   Mitochondrial Encephalomyopathies [MESH:D017237] (1121)   MELAS Syndrome [MESH:D017241] (1061)   Myopathy with lactic acidosis and sideroblastic anemia [MESH:C536101] (35)  Proteostasis Deficiencies [MESH:D057165] (3522)   TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 11 [MESH:C567244] (18)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Nutrition Disorders [MESH:D009748] (4945)   Malnutrition [MESH:D044342] (2754)   Deficiency Diseases [MESH:D003677] (2742)   Protein Deficiency [MESH:D011488] (1057)  Avitaminosis [MESH:D001361] (2304)   Vitamin A Deficiency [MESH:D014802] (705)  Overnutrition [MESH:D044343] (4463)   Obesity [MESH:D009765] (4462) C19. Endocrine System Diseases  C19. Endocrine System Diseases  Endocrine System Diseases [MESH:D004700] (8062)   Adrenal Gland Diseases [MESH:D000307] (2397)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Adrenal Insufficiency [MESH:D000309] (1599)   Achalasia Addisonianism Alacrimia syndrome [MESH:C536008] (24)  Adrenoleukodystrophy [MESH:D000326] (1348)  Diabetes Mellitus [MESH:D003920] (6159)   Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes Complications [MESH:D048909] (4129)   Diabetic Neuropathies [MESH:D003929] (2443)  Diabetes Mellitus, Type 1 [MESH:D003922] (1897)   Wolcott-Rallison syndrome [MESH:C536739] (92)  Diabetes Mellitus, Insulin-Dependent, 21 [MESH:C567285] (11)  Wolfram Syndrome [MESH:D014929] (37)  Dwarfism [MESH:D004392] (698)   Congenital Hypothyroidism [MESH:D003409] (266)   Thyroid Dyshormonogenesis 1 [MESH:C564766] (79)  Hypothyroidism, Congenital, Nongoitrous, 5 [MESH:C567123] (24)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Multiple Endocrine Neoplasia [MESH:D009377] (375)   Multiple Endocrine Neoplasia Type 1 [MESH:D018761] (26)  Ovarian Neoplasms [MESH:D010051] (3275)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Adenoma, Islet Cell [MESH:D007516] (31)   Insulinoma [MESH:D007340] (27)  Carcinoma, Islet Cell [MESH:D018273] (115)   Gastrinoma [MESH:D015408] (26)  Glucagonoma [MESH:D005935] (26)  Vipoma [MESH:D003969] (110)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111)  Gonadal Disorders [MESH:D006058] (5088)   Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Cortisone reductase deficiency [MESH:C536447] (136)  Adrenogenital Syndrome [MESH:D047808] (715)   Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Gonadal Dysgenesis [MESH:D006059] (492)   Dosage-sensitive sex reversal [MESH:C535601] (40)  Hypogonadism [MESH:D007006] (1123)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Ovarian Diseases [MESH:D010049] (4253)   Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Ovarian Neoplasms [MESH:D010051] (3281)   Hereditary Breast and Ovarian Cancer Syndrome [MESH:D061325] (143)  Testicular Diseases [MESH:D013733] (777)   Cryptorchidism [MESH:D003456] (215)  Parathyroid Diseases [MESH:D010279] (1604)   Hyperparathyroidism [MESH:D006961] (1475)  Pituitary Diseases [MESH:D010900] (1829)   Diabetes Insipidus [MESH:D003919] (302)   Wolfram Syndrome [MESH:D014929] (37)  Thyroid Diseases [MESH:D013959] (2808)   Hypothyroidism [MESH:D007037] (496)   Congenital Hypothyroidism [MESH:D003409] (266)   Thyroid Dyshormonogenesis 1 [MESH:C564766] (79)  Hypothyroidism, Congenital, Nongoitrous, 5 [MESH:C567123] (24)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, papillary [MESH:C536915] (111) C20. Immune System Diseases  C20. Immune System Diseases  Immune System Diseases [MESH:D007154] (7674)   Autoimmune Diseases [MESH:D001327] (5067)   Arthritis, Rheumatoid [MESH:D001172] (3601)  Diabetes Mellitus, Type 1 [MESH:D003922] (1893)   Wolcott-Rallison syndrome [MESH:C536739] (92)  Diabetes Mellitus, Insulin-Dependent, 21 [MESH:C567285] (11)  Hypersensitivity [MESH:D006967] (5873)   Drug Hypersensitivity [MESH:D004342] (4000)   Asthma, Aspirin-Induced [MESH:D055963] (1055)  Hypersensitivity, Delayed [MESH:D006968] (3408)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Hypersensitivity, Immediate [MESH:D006969] (4980)   Asthma, Aspirin-Induced [MESH:D055963] (1055)  Dermatitis, Atopic [MESH:D003876] (2052)  Respiratory Hypersensitivity [MESH:D012130] (4250)   Asthma [MESH:D001249] (3914)  Immunologic Deficiency Syndromes [MESH:D007153] (3788)   HIV Infections [MESH:D015658] (3402)  Phagocyte Bactericidal Dysfunction [MESH:D010585] (999)   Job Syndrome [MESH:D007589] (772)   Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)  Immunoproliferative Disorders [MESH:D007160] (4761)   Lymphoproliferative Disorders [MESH:D008232] (4734)   Multiple Myeloma [MESH:D009101] (2767)  Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Leukemia, T-Cell [MESH:D015458] (395)   Leukemia-Lymphoma, Adult T-Cell [MESH:D015459] (138)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Precursor T-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054218] (510)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Hodgkin Disease [MESH:D006689] (1082)  Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Lymphoma, T-Cell [MESH:D016399] (1382)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Paraproteinemias [MESH:D010265] (2791)   Multiple Myeloma [MESH:D009101] (2765) C22. Animal Diseases  C22. Animal Diseases  Animal Diseases [MESH:D000820] (3656)   Dog Diseases [MESH:D004283] (59)  Mammary Neoplasms, Animal [MESH:D015674] (2735) C23. Pathological Conditions, Signs and Symptoms  C23. Pathological Conditions, Signs and Symptoms  Pathological Conditions, Anatomical [MESH:D020763] (6074)   Atrophy [MESH:D001284] (2603)  Facial Asymmetry [MESH:D005146] (31)  Cysts [MESH:D003560] (133)   Polycystic liver disease [MESH:C536330] (50)  Van der Woude syndrome [MESH:C536528] (33)  Hernia [MESH:D006547] (2825)   Hernia, Diaphragmatic [MESH:D006548] (2647)  Encephalocele [MESH:D004677] (151)   Parietal Foramina With Cleidocranial Dysplasia [MESH:C566825] (36)  Parietal Foramina [MESH:C566826] (42)  Intervertebral Disc Displacement [MESH:D007405] (520)   Intervertebral disc disease [MESH:C535531] (514)  Hypertrophy [MESH:D006984] (4476)   Cardiomegaly [MESH:D006332] (3802)  Nails, Malformed [MESH:D009264] (184)   Yellow Nail Syndrome [MESH:D056684] (25)  Pathologic Processes [MESH:D010335] (9863)   Emphysema [MESH:D004646] (1096)  Gliosis [MESH:D005911] (1419)  Hyperplasia [MESH:D006965] (2463)  Necrosis [MESH:D009336] (4019)  Nerve Degeneration [MESH:D009410] (4061)  Ossification, Heterotopic [MESH:D009999] (187)  Ulcer [MESH:D014456] (392)  Arrhythmias, Cardiac [MESH:D001145] (4658)   Atrial Fibrillation [MESH:D001281] (1053)  Bradycardia [MESH:D001919] (1899)  Tachycardia [MESH:D013610] (3339)  Chromosome Aberrations [MESH:D002869] (2352)   Chromosome Breakage [MESH:D019457] (139)  Micronuclei, Chromosome-Defective [MESH:D048629] (1013)  Death [MESH:D003643] (1328)   Asphyxia [MESH:D001237] (25)  Disease Attributes [MESH:D020969] (3654)   Disease Progression [MESH:D018450] (2868)  Recurrence [MESH:D012008] (830)  Facies [MESH:D019066] (738)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Fibrosis [MESH:D005355] (3133)   Cicatrix [MESH:D002921] (1115)   Keloid [MESH:D007627] (1110)  Growth Disorders [MESH:D006130] (2438)   Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Hemorrhage [MESH:D006470] (4451)   Intracranial Hemorrhages [MESH:D020300] (3241)   Cerebral Hemorrhage [MESH:D002543] (2872)  Purpura [MESH:D011693] (475)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Inflammation [MESH:D007249] (5241)   Systemic Inflammatory Response Syndrome [MESH:D018746] (3563)   Sepsis [MESH:D018805] (3562)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  Intraoperative Complications [MESH:D007431] (131)   Malignant Hyperthermia [MESH:D008305] (92)   Malignant hyperthermia susceptibility type 1 [MESH:C535694] (51)  Menstruation Disturbances [MESH:D008599] (926)   Amenorrhea [MESH:D000568] (817)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Neoplasm Metastasis [MESH:D009362] (4441)   Lymphatic Metastasis [MESH:D008207] (917)  Postoperative Complications [MESH:D011183] (5311)   Malignant Hyperthermia [MESH:D008305] (92)   Malignant hyperthermia susceptibility type 1 [MESH:C535694] (51)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Signs and Symptoms [MESH:D012816] (10659)   Cyanosis [MESH:D003490] (288)  Edema [MESH:D004487] (3726)  Body Temperature Changes [MESH:D001832] (3130)   Hypothermia [MESH:D007035] (2075)  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)   Pain [MESH:D010146] (3869)  Dyskinesias [MESH:D020820] (3285)   Catalepsy [MESH:D002375] (1429)  Dystonia [MESH:D004421] (848)  Hypokinesia [MESH:D018476] (279)  Tremor [MESH:D014202] (840)  Neurobehavioral Manifestations [MESH:D019954] (4706)   Psychomotor Disorders [MESH:D011596] (576)  Communication Disorders [MESH:D003147] (2918)   Language Disorders [MESH:D007806] (653)   Language Development Disorders [MESH:D007805] (351)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Learning Disorders [MESH:D007859] (2727)   Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Consciousness Disorders [MESH:D003244] (677)   Unconsciousness [MESH:D014474] (657)   Stupor [MESH:D053608] (103)  Memory Disorders [MESH:D008569] (3233)   Amnesia [MESH:D000647] (1911)  Intellectual Disability [MESH:D008607] (1476)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Coffin-Siris syndrome [MESH:C536436] (102)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Hypertonia [MESH:D009122] (775)   Muscle Rigidity [MESH:D009127] (617)  Muscle Hypotonia [MESH:D009123] (258)   Joubert syndrome 3 [MESH:C536295] (11)  Paralysis [MESH:D010243] (2298)   Hemiplegia [MESH:D006429] (184)   Alternating hemiplegia of childhood [MESH:C536589] (70)  Ophthalmoplegia [MESH:D009886] (1468)   Oculootoradial syndrome [MESH:C535544] (14)  Minicore Myopathy with External Ophthalmoplegia [MESH:C564969] (51)  Supranuclear Palsy, Progressive [MESH:D013494] (235)  Seizures [MESH:D012640] (4502)   Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency [MESH:C566449] (24)  Sensation Disorders [MESH:D012678] (5009)   Hearing Disorders [MESH:D006311] (2101)   Hearing Loss [MESH:D034381] (2066)   Deafness [MESH:D003638] (593)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Mental retardation-hypotonic facies syndrome, x-linked, 1 [MESH:C537457] (59)  Hearing Loss, Bilateral [MESH:D006312] (55)   Oculootoradial syndrome [MESH:C535544] (14)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Marshall syndrome [MESH:C536025] (52)  Townes-Brocks syndrome [MESH:C536974] (28)  Deafness, Autosomal Dominant 6 [MESH:C563421] (32)  Deafness, Autosomal Recessive 28 [MESH:C565218] (26)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 2B [MESH:C567214] (18)  Deafness, Autosomal Dominant 2A [MESH:C567441] (36)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Vision Disorders [MESH:D014786] (444)   Blindness [MESH:D001766] (178)   Yemenite deaf-blind hypopigmentation syndrome [MESH:C536771] (17)  Pain [MESH:D010146] (4511)   Chest Pain [MESH:D002637] (2642)   Angina Pectoris [MESH:D000787] (2568)   Acute Coronary Syndrome [MESH:D054058] (2286)  Signs and Symptoms, Digestive [MESH:D012817] (3095)   Anorexia [MESH:D000855] (854)  Diarrhea [MESH:D003967] (858)  Skin Manifestations [MESH:D012877] (1250)   Pruritus [MESH:D011537] (648)  Purpura [MESH:D011693] (475)   Ethylmalonic encephalopathy [MESH:C535737] (27)  Urological Manifestations [MESH:D020924] (3532)   Proteinuria [MESH:D011507] (3293)  Virilism [MESH:D014770] (327)   Hirsutism [MESH:D006628] (323)   Cortisone reductase deficiency [MESH:C536447] (136) 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)  Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Drug Hypersensitivity [MESH:D004342] (4001)   Asthma, Aspirin-Induced [MESH:D055963] (1055)  Poisoning [MESH:D011041] (6703)   Arsenic Poisoning [MESH:D020261] (2540)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Neurotoxicity Syndromes [MESH:D020258] (3323)   Dyskinesia, Drug-Induced [MESH:D004409] (1389)  Substance-Related Disorders [MESH:D019966] (6308)   Amphetamine-Related Disorders [MESH:D019969] (2858)  Cocaine-Related Disorders [MESH:D019970] (3054)  Substance Withdrawal Syndrome [MESH:D013375] (2956)  Alcohol-Related Disorders [MESH:D019973] (3869)   Alcohol-Induced Disorders [MESH:D020751] (3350)   Liver Diseases, Alcoholic [MESH:D008108] (3243)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066) C26. Wounds and Injuries  C26. Wounds and Injuries  Wounds and Injuries [MESH:D014947] (5171)   Asphyxia [MESH:D001237] (25)  Heat Stress Disorders [MESH:D018882] (226)  Craniocerebral Trauma [MESH:D006259] (3523)   Brain Injuries [MESH:D001930] (3431)  Coma, Post-Head Injury [MESH:D020207] (55)  Fractures, Bone [MESH:D050723] (597)   Femoral Fractures [MESH:D005264] (137)  Fractures, Closed [MESH:D005596] (194)  Leg Injuries [MESH:D007869] (152)   Femoral Fractures [MESH:D005264] (137)  Rupture [MESH:D012421] (646)   Aortic Rupture [MESH:D001019] (637)  Trauma, Nervous System [MESH:D020196] (3535)   Craniocerebral Trauma [MESH:D006259] (3507)   Brain Injuries [MESH:D001930] (3431)  Coma, Post-Head Injury [MESH:D020207] (55) D02. Organic Chemicals  D02. Organic Chemicals  Organic Chemicals [MESH:D009930] (75987)   Carboxylic Acids [MESH:D002264] (13103)   Acids, Acyclic [MESH:D000144] (7142)   Valerates [MESH:D014631] (220)   Pentanoic Acids [MESH:D010421] (161)   Valproic Acid [MESH:D014635] (43) D10. Lipids  D10. Lipids  Lipids [MESH:D008055] (8597)   Fatty Acids [MESH:D005227] (4267)   Fatty Acids, Volatile [MESH:D005232] (1521)   Valerates [MESH:D014631] (216)   Pentanoic Acids [MESH:D010421] (161)   Valproic Acid [MESH:D014635] (43) E. Analytical, Diagnostic and Therapeutic Techniques and Equipment  E. Analytical, Diagnostic and Therapeutic Techniques and Equipment  Diagnosis [MESH:D003933] (1924)   Diagnostic Techniques and Procedures [MESH:D019937] (1902)   Physical Examination [MESH:D010808] (1041)   Facies [MESH:D019066] (704)   Nicolaides Baraitser syndrome [MESH:C536116] (40) 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)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Coffin-Siris syndrome [MESH:C536436] (102)  Mental Disorders [MESH:D001523] (2063)   Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245)   Communication Disorders [MESH:D003147] (62)   Learning Disorders [MESH:D007859] (61)   Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Learning Disorders [MESH:D007859] (61)   Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders [MESH:C564505] (45)  Intellectual Disability [MESH:D008607] (1109)   Nicolaides Baraitser syndrome [MESH:C536116] (40)  Coffin-Siris syndrome [MESH:C536436] (102)  Sexual and Gender Disorders [MESH:D019968] (624)   Disorders of Sex Development [MESH:D012734] (609)   46, XX Disorders of Sex Development [MESH:D058489] (375)   Cortisone reductase deficiency [MESH:C536447] (136) G. Phenomena and Processes  G. Phenomena and Processes  Genetic Phenomena [MESH:D055614] (1922)   Genetic Variation [MESH:D014644] (1337)   Mutation [MESH:D009154] (1327)   Chromosome Aberrations [MESH:D002869] (1297)   Mosaicism [MESH:D009030] (116)   Mosaic variegated aneuploidy syndrome [MESH:C536987] (95)