Item 31 of 420 (back to results) previous next   pantogab C016030               MeSH Unique Identifier: C016030 Scope Notes: Synonym hopantenic acid refers to (R)-isomer; synonym pantogam refers to Ca salt (2:1), ((R)-isomer Chemical – Gene Interaction Note 1: Pantogab results in decreased activity of PANK1 protein Note 2: Pantogab results in decreased activity of PANK2 protein Click here for more information

Current search: C20. Immune System Diseases: Immune System Diseases [MESH:D007154] > Immunoproliferative Disorders [MESH:D007160] > Lymphoproliferative Disorders [MESH:D008232] > Lymphoma [MESH:D008223] > Lymphoma, Non-Hodgkin [MESH:D008228] > Lymphoma, T-Cell [MESH:D016399] > Lymphoma, Large-Cell, Anaplastic [MESH:D017728] × Select any link to see items in a related category. more general categories    information about this item 2. Interaction: Human Genes and Chemicals  2. Interaction: Human Genes and Chemicals  Decreases (5154)   activity (2549) 4. Semantic Terms  4. Semantic Terms  Entity [STY:T071] (48056)   Physical Object [STY:T072] (47583)   Substance [STY:T167] (46174)   Chemical [STY:T103] (46110)   Chemical Viewed Functionally [STY:T120] (28747)   Pharmacologic Substance [STY:T121] (11019)  Chemical Viewed Structurally [STY:T104] (44741)   Organic Chemical [STY:T109] (44144) A. Anatomy  A. Anatomy  Body Regions [MESH:D001829] (867)   Head [MESH:D006257] (523)   Face [MESH:D005145] (387)   Coffin-Siris syndrome [MESH:C536436] (102)  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)   Hypochondroplasia [MESH:C562937] (66)  Bones of Upper Extremity [MESH:D001133] (240)   Arm Bones [MESH:D050280] (183)   Ulna [MESH:D014457] (96)   Ulnar-mammary syndrome [MESH:C536937] (57)  Skull [MESH:D012886] (610)   Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Urogenital System [MESH:D014566] (986)   Genitalia [MESH:D005835] (400)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Cardiovascular System [MESH:D002319] (1086)   Blood Vessels [MESH:D001808] (278)   Arteries [MESH:D001158] (173)   Retinal Artery [MESH:D012161] (78)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Retinal Vessels [MESH:D012171] (112)   Retinal Artery [MESH:D012161] (78)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Tissues [MESH:D014024] (397)   Connective Tissue [MESH:D003238] (173)   Bone and Bones [MESH:D001842] (149)   Hypochondroplasia [MESH:C562937] (66) C01. Bacterial Infections and Mycoses  C01. Bacterial Infections and Mycoses  Bacterial Infections [MESH:D001424] (3716)   Gram-Negative Bacterial Infections [MESH:D016905] (3085)   Helicobacter Infections [MESH:D016481] (579)  Mycoplasmatales Infections [MESH:D009180] (1949)   Mycoplasma Infections [MESH:D009175] (1947)  Gram-Positive Bacterial Infections [MESH:D016908] (2434)   Listeriosis [MESH:D008088] (1622)  Actinomycetales Infections [MESH:D000193] (1466)   Mycobacterium Infections [MESH:D009164] (1446)   Leprosy [MESH:D007918] (261)  Skin Diseases, Bacterial [MESH:D017192] (157)   Hidradenitis Suppurativa [MESH:D017497] (120)  Infection [MESH:D007239] (4109)   Respiratory Tract Infections [MESH:D012141] (199)  Bone Diseases, Infectious [MESH:D001850] (90)   Osteomyelitis [MESH:D010019] (69)   Majeed syndrome [MESH:C537839] (33)  Eye Infections [MESH:D015817] (86)   Corneal Ulcer [MESH:D003320] (61)  Sepsis [MESH:D018805] (3556)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  Skin Diseases, Infectious [MESH:D012874] (415)   Cellulitis [MESH:D002481] (87)  Skin Diseases, Bacterial [MESH:D017192] (156)   Hidradenitis Suppurativa [MESH:D017497] (120)  Suppuration [MESH:D013492] (219)   Cellulitis [MESH:D002481] (87)  Hidradenitis Suppurativa [MESH:D017497] (120)  Toxemia [MESH:D014115] (1290)   Endotoxemia [MESH:D019446] (1289) C02. Virus Diseases  C02. Virus Diseases  Virus Diseases [MESH:D014777] (4544)   Central Nervous System Viral Diseases [MESH:D020805] (1416)   Poliomyelitis [MESH:D011051] (54)  Myelitis [MESH:D009187] (71)   Poliomyelitis [MESH:D011051] (56)  DNA Virus Infections [MESH:D004266] (2474)   Herpesviridae Infections [MESH:D006566] (1944)   Epstein-Barr Virus Infections [MESH:D020031] (695)   Burkitt Lymphoma [MESH:D002051] (691)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis C [MESH:D006526] (1627)  RNA Virus Infections [MESH:D012327] (4215)   Flaviviridae Infections [MESH:D018178] (1656)   Hepatitis C [MESH:D006526] (1627)  Orthomyxoviridae Infections [MESH:D009976] (1077)   Influenza, Human [MESH:D007251] (1075)  Picornaviridae Infections [MESH:D010850] (1672)   Enterovirus Infections [MESH:D004769] (241)   Coxsackievirus Infections [MESH:D003384] (194)  Poliomyelitis [MESH:D011051] (56)  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) C03. Parasitic Diseases  C03. Parasitic Diseases  Parasitic Diseases [MESH:D010272] (3828)   Liver Diseases, Parasitic [MESH:D008109] (1009) C04. Neoplasms  C04. Neoplasms  Neoplasms [MESH:D009369] (10293)   Precancerous Conditions [MESH:D011230] (2858)  Cysts [MESH:D003560] (2625)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Neoplasms by Histologic Type [MESH:D009370] (8793)   Leukemia [MESH:D007938] (4576)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, T-Cell [MESH:D015458] (395)  Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  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, Myelomonocytic, Juvenile [MESH:D054429] (344)  Leukemia, Myeloid, Acute [MESH:D015470] (2176)   Leukemia, Erythroblastic, Acute [MESH:D004915] (89)  Leukemia, Promyelocytic, Acute [MESH:D015473] (1367)  Lymphoma [MESH:D008223] (3686)   Lymphoma, Non-Hodgkin [MESH:D008228] (3337)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, T-Cell [MESH:D016399] (1405)   Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742)   Neoplasms, Connective Tissue [MESH:D009372] (3626)   Neoplasms, Bone Tissue [MESH:D018213] (2217)   Osteosarcoma [MESH:D012516] (2175)  Osteochondroma [MESH:D015831] (157)   Osteochondromatosis [MESH:D018216] (155)   Exostoses, Multiple Hereditary [MESH:D005097] (154)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  Neoplasms, Fibrous Tissue [MESH:D018218] (1720)   Fibroma [MESH:D005350] (1578)  Solitary Fibrous Tumors [MESH:D054364] (79)  Sarcoma [MESH:D012509] (4246)   Hemangiosarcoma [MESH:D006394] (1836)  Osteosarcoma [MESH:D012516] (2175)  Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126)   Germinoma [MESH:D018237] (201)   Seminoma [MESH:D018239] (195)  Neuroectodermal Tumors [MESH:D017599] (5066)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   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)   Melanoma [MESH:D008545] (3508)   Uveal melanoma [MESH:C536494] (109)  Neoplasms, Glandular and Epithelial [MESH:D009375] (7760)   Adenoma [MESH:D000236] (4051)   Mesothelioma [MESH:D008654] (2567)  Carcinoma [MESH:D002277] (7263)   Carcinoma, Basal Cell [MESH:D002280] (1628)  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, Lobular [MESH:D018275] (305)  Carcinoma, Renal Cell [MESH:D002292] (2975)  Cholangiocarcinoma [MESH:D018281] (2398)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Carcinoma in Situ [MESH:D002278] (2111)   Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)  Carcinoma, Squamous Cell [MESH:D002294] (4294)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Neoplasms, Basal Cell [MESH:D018295] (1707)   Carcinoma, Basal Cell [MESH:D002280] (1628)  Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831)   Carcinoma, Lobular [MESH:D018275] (305)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Neoplasms, Mesothelial [MESH:D018301] (2569)   Mesothelioma [MESH:D008654] (2567)  Neoplasms, Neuroepithelial [MESH:D018302] (4487)   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)   Papilloma [MESH:D010212] (2243)  Carcinoma, Squamous Cell [MESH:D002294] (4294)   Esophageal Squamous Cell Carcinoma [MESH:C562729] (2396)  Neoplasms, Nerve Tissue [MESH:D009380] (5201)   Meningioma [MESH:D008579] (978)  Neuroectodermal Tumors [MESH:D017599] (5059)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   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)   Uveal melanoma [MESH:C536494] (109)  Neoplasms, Plasma Cell [MESH:D054219] (2772)   Multiple Myeloma [MESH:D009101] (2767)  Neoplasms, Vascular Tissue [MESH:D009383] (2959)   Hemangiosarcoma [MESH:D006394] (1836)  Meningioma [MESH:D008579] (978)  Nevi and Melanomas [MESH:D018326] (3572)   Melanoma [MESH:D008545] (3508)   Uveal melanoma [MESH:C536494] (109)  Nevus [MESH:D009506] (340)   Nevus, Pigmented [MESH:D009508] (123)   Nevus, Epidermal [MESH:C562736] (112)  Neoplasms by Site [MESH:D009371] (9169)   Breast Neoplasms [MESH:D001943] (6077)   Breast Neoplasms, Male [MESH:D018567] (650)  Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Digestive System Neoplasms [MESH:D004067] (7487)   Pancreatic Neoplasms [MESH:D010190] (3820)  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)   Colonic Neoplasms [MESH:D003110] (4405)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)  Pancreatic Neoplasms [MESH:D010190] (3820)  Eye Neoplasms [MESH:D005134] (400)   Uveal Neoplasms [MESH:D014604] (115)   Uveal melanoma [MESH:C536494] (109)  Head and Neck Neoplasms [MESH:D006258] (4612)   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)  Tongue Neoplasms [MESH:D014062] (1518)  Otorhinolaryngologic Neoplasms [MESH:D010039] (1557)   Laryngeal Neoplasms [MESH:D007822] (68)  Pharyngeal Neoplasms [MESH:D010610] (1520)  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)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Skin Neoplasms [MESH:D012878] (2992)   Nevus, Epidermal [MESH:C562736] (112)  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)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Neoplasms, Experimental [MESH:D009374] (5218)   Liver Neoplasms, Experimental [MESH:D008114] (2837)  Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Tumor Virus Infections [MESH:D014412] (697)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691)  Neoplastic Processes [MESH:D009385] (5317)   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)   Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)  Exostoses, Multiple Hereditary [MESH:D005097] (154)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  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 Diseases, Developmental [MESH:D001848] (3315)   CATSHL syndrome [MESH:C537975] (66)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Dwarfism [MESH:D004392] (778)   Hypochondroplasia [MESH:C562937] (66)  Achondroplasia [MESH:D000130] (196)   Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Dysostoses [MESH:D004413] (1019)   Craniofacial Dysostosis [MESH:D003394] (391)   Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Gigantism [MESH:D005877] (46)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Osteochondrodysplasias [MESH:D010009] (2440)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13)  Achondroplasia [MESH:D000130] (196)   Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Osteochondroma [MESH:D015831] (157)   Osteochondromatosis [MESH:D018216] (155)   Exostoses, Multiple Hereditary [MESH:D005097] (154)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  Osteosclerosis [MESH:D010026] (356)   Raine syndrome [MESH:C535282] (29)  Bone Diseases, Endocrine [MESH:D001849] (747)   Gigantism [MESH:D005877] (46)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Bone Diseases, Infectious [MESH:D001850] (90)   Osteomyelitis [MESH:D010019] (69)   Majeed syndrome [MESH:C537839] (33)  Bone Diseases, Metabolic [MESH:D001851] (3492)   Osteoporosis [MESH:D010024] (3037)  Bone Malalignment [MESH:D017760] (26)   Bone Anteversion [MESH:D060750] (22)   Coxa Vara [MESH:D060905] (21)   Jacobs syndrome [MESH:C537560] (19)  Bone Resorption [MESH:D001862] (2352)   Alveolar Bone Loss [MESH:D016301] (220)  Osteolysis [MESH:D010014] (1787)  Hyperostosis [MESH:D015576] (493)   Exostoses [MESH:D005096] (160)   Exostoses, Multiple Hereditary [MESH:D005097] (154)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  Spinal Diseases [MESH:D013122] (2485)   Spinal Curvatures [MESH:D013121] (742)   Kyphosis [MESH:D007738] (637)  Lordosis [MESH:D008141] (69)   Hypochondroplasia [MESH:C562937] (66)  Spondylitis [MESH:D013166] (1924)   Spondylarthritis [MESH:D025241] (1912)   Spondylarthropathies [MESH:D025242] (1909)   Spondylitis, Ankylosing [MESH:D013167] (431)  Hand Deformities [MESH:D006226] (590)   Hand Deformities, Congenital [MESH:D006228] (587)   Coffin-Siris syndrome [MESH:C536436] (102)  Vohwinkel syndrome [MESH:C536457] (68)  Jacobs syndrome [MESH:C537560] (19)  CATSHL syndrome [MESH:C537975] (66)  Jaw Diseases [MESH:D007571] (1601)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Joint Diseases [MESH:D007592] (4657)   Contracture [MESH:D003286] (296)  Ankylosis [MESH:D000844] (479)   Spondylitis, Ankylosing [MESH:D013167] (431)  Arthritis [MESH:D001168] (4416)   Arthritis, Experimental [MESH:D001169] (3142)  Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)  Spondylarthritis [MESH:D025241] (1912)   Spondylarthropathies [MESH:D025242] (1909)   Spondylitis, Ankylosing [MESH:D013167] (431)  Arthropathy, Neurogenic [MESH:D001177] (30)   Jacobs syndrome [MESH:C537560] (19)  Synovitis [MESH:D013585] (270)   Jacobs syndrome [MESH:C537560] (19)  Muscular Diseases [MESH:D009135] (4071)   Systemic carnitine deficiency [MESH:C536778] (92)  Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58)  Contracture [MESH:D003286] (303)  Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Muscular Disorders, Atrophic [MESH:D020966] (1598)   Muscular Dystrophies [MESH:D009136] (1593)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Myositis [MESH:D009220] (2071)   Myositis Ossificans [MESH:D009221] (22)  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)   22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Craniofacial Dysostosis [MESH:D003394] (391)   Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)  Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  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)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Microcephaly [MESH:D008831] (700)   Raine syndrome [MESH:C535282] (29)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Limb Deformities, Congenital [MESH:D017880] (1813)   Hypochondroplasia [MESH:C562937] (66)  Syndactyly [MESH:D013576] (487)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Upper Extremity Deformities, Congenital [MESH:D038062] (604)   Hand Deformities, Congenital [MESH:D006228] (587)   Coffin-Siris syndrome [MESH:C536436] (102)  Vohwinkel syndrome [MESH:C536457] (68)  Jacobs syndrome [MESH:C537560] (19)  CATSHL syndrome [MESH:C537975] (66)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  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)   Cholestasis, Intrahepatic [MESH:D002780] (1510)   Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Cholangitis [MESH:D002761] (203)   Cholangitis, Sclerosing [MESH:D015209] (93)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Digestive System Neoplasms [MESH:D004067] (7493)   Pancreatic Neoplasms [MESH:D010190] (3820)  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)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Gastrointestinal Diseases [MESH:D005767] (7443)   Esophageal Diseases [MESH:D004935] (4255)   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)  Enterocolitis [MESH:D004760] (1536)   Enterocolitis, Necrotizing [MESH:D020345] (1367)  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)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  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)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Enterocolitis [MESH:D004760] (1536)   Enterocolitis, Necrotizing [MESH:D020345] (1367)  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)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Malabsorption Syndromes [MESH:D008286] (492)   Celiac Disease [MESH:D002446] (340)  Rectal Diseases [MESH:D012002] (4596)   Colorectal Neoplasms [MESH:D015179] (4534)  Stomach Diseases [MESH:D013272] (5325)   Stomach Neoplasms [MESH:D013274] (4942)  Liver Diseases [MESH:D008107] (8167)   Drug-Induced Liver Injury [MESH:D056486] (4936)  Hepatic Veno-Occlusive Disease [MESH:D006504] (208)  Hepatolenticular Degeneration [MESH:D006527] (473)  Hepatomegaly [MESH:D006529] (1169)  Liver Diseases, Parasitic [MESH:D008109] (1009)  Zellweger Syndrome [MESH:D015211] (182)  Cholestasis, Intrahepatic [MESH:D002780] (1510)   Liver Cirrhosis, Biliary [MESH:D008105] (1274)  Fatty Liver [MESH:D005234] (3584)   Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)  Hepatic Insufficiency [MESH:D048550] (2771)   Liver Failure [MESH:D017093] (2768)   Liver Failure, Acute [MESH:D017114] (2404)  Hepatitis [MESH:D006505] (3883)   Hepatitis, Animal [MESH:D006520] (260)  Hepatitis, Viral, Human [MESH:D006525] (1766)   Hepatitis C [MESH:D006526] (1627)  Liver Cirrhosis [MESH:D008103] (5542)   Cirrhosis, Familial [MESH:C566123] (179)  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)   Congenital Hyperinsulinism [MESH:D044903] (132)  Pancreatic Neoplasms [MESH:D010190] (3820) 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)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Diseases [MESH:D009059] (4783)   Lip Diseases [MESH:D008047] (924)   Cleft Lip [MESH:D002971] (914)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Neoplasms [MESH:D014062] (1518)  Periodontal Diseases [MESH:D010510] (1001)   Gingival Diseases [MESH:D005882] (217)   Gingival Overgrowth [MESH:D019214] (192)   Gingival Hypertrophy [MESH:D005886] (27)  Periodontal Atrophy [MESH:D055093] (225)   Alveolar Bone Loss [MESH:D016301] (220)  Periodontitis [MESH:D010518] (843)   Chronic Periodontitis [MESH:D055113] (231)  Salivary Gland Diseases [MESH:D012466] (1213)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Diseases [MESH:D014060] (1544)   Tongue Neoplasms [MESH:D014062] (1518)  Pharyngeal Diseases [MESH:D010608] (1562)   Pharyngeal Neoplasms [MESH:D010610] (1520)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Tooth Abnormalities [MESH:D014071] (622)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Tooth Diseases [MESH:D014076] (742)   Tooth Abnormalities [MESH:D014071] (622)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149) C08. Respiratory Tract Diseases  C08. Respiratory Tract Diseases  Respiratory Tract Diseases [MESH:D012140] (7881)   Bronchial Diseases [MESH:D001982] (4382)   Asthma [MESH:D001249] (4098)  Laryngeal Diseases [MESH:D007818] (215)   Laryngeal Neoplasms [MESH:D007822] (68)  Lung Diseases [MESH:D008171] (7249)   Pneumonia [MESH:D011014] (3482)  Pulmonary Embolism [MESH:D011655] (1118)  Respiratory Distress Syndrome, Adult [MESH:D012128] (864)  Lung Diseases, Interstitial [MESH:D017563] (2966)   Surfactant Metabolism Dysfunction, Pulmonary, 1 [MESH:C566882] (102)  Idiopathic Interstitial Pneumonias [MESH:D054988] (314)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Lung Diseases, Obstructive [MESH:D008173] (4697)   Asthma [MESH:D001249] (3903)  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, 1 [MESH:C566882] (102)  Pulmonary Fibrosis [MESH:D011658] (3140)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Respiration Disorders [MESH:D012120] (2218)   Respiratory Distress Syndrome, Adult [MESH:D012128] (864)  Respiratory Hypersensitivity [MESH:D012130] (4401)   Asthma [MESH:D001249] (4098)  Respiratory Tract Infections [MESH:D012141] (3926)   Influenza, Human [MESH:D007251] (1075)  Pneumonia [MESH:D011014] (3482)  Respiratory Tract Neoplasms [MESH:D012142] (6053)   Laryngeal Neoplasms [MESH:D007822] (68)  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)   Ear Diseases [MESH:D004427] (2522)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   CATSHL syndrome [MESH:C537975] (66)  Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Deafness [MESH:D003638] (623)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 3A [MESH:C567277] (77)  Labyrinth Diseases [MESH:D007759] (846)   Vestibular Diseases [MESH:D015837] (819)  Laryngeal Diseases [MESH:D007818] (211)   Laryngeal Neoplasms [MESH:D007822] (68)  Otorhinolaryngologic Neoplasms [MESH:D010039] (1561)   Laryngeal Neoplasms [MESH:D007822] (68)  Pharyngeal Neoplasms [MESH:D010610] (1520)  Pharyngeal Diseases [MESH:D010608] (1605)   Pharyngeal Neoplasms [MESH:D010610] (1520) C10. Nervous System Diseases  C10. Nervous System Diseases  Z. Exceptions (4027)   Not Fully Specified [NFS] (4027)  Nervous System Diseases [MESH:D009422] (13325)   Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732)   Multiple Sclerosis [MESH:D009103] (1716)  Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Central Nervous System Diseases [MESH:D002493] (9745)   Brain Diseases [MESH:D001927] (9294)   Familial porencephaly [MESH:C536850] (77)  Brain Injuries [MESH:D001930] (3429)  Brain Neoplasms [MESH:D001932] (2764)  Basal Ganglia Diseases [MESH:D001480] (4268)   Hepatolenticular Degeneration [MESH:D006527] (473)  Huntington Disease [MESH:D006816] (540)   Huntington Disease-Like 1 [MESH:C566398] (98)  Pantothenate Kinase-Associated Neurodegeneration [MESH:D006211] (17)   Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration [MESH:C564603] (16)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Brain Diseases, Metabolic [MESH:D001928] (3351)   Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Tyrosinemias [MESH:D020176] (132)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Cerebrovascular Disorders [MESH:D002561] (5542)   Carotid Artery Diseases [MESH:D002340] (1993)  Brain Ischemia [MESH:D002545] (4873)   Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Arterial Diseases [MESH:D020765] (2463)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Embolism and Thrombosis [MESH:D002542] (490)   Intracranial Thrombosis [MESH:D020767] (481)   Sinus Thrombosis, Intracranial [MESH:D012851] (356)   Sagittal Sinus Thrombosis [MESH:D020225] (223)  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)  Creutzfeldt-Jakob Syndrome [MESH:D007562] (118)  Frontotemporal Lobar Degeneration [MESH:D057174] (310)   Frontotemporal Dementia [MESH:D057180] (300)  Huntington Disease [MESH:D006816] (540)   Huntington Disease-Like 1 [MESH:C566398] (98)  Epilepsy [MESH:D004827] (6274)   Amish Infantile Epilepsy Syndrome [MESH:C563799] (46)  Seizures [MESH:D012640] (4502)  Status Epilepticus [MESH:D013226] (4014)  Epilepsy, Generalized [MESH:D004829] (1431)   Spasms, Infantile [MESH:D013036] (468)   Epileptic Encephalopathy, Early Infantile, 3 [MESH:C562695] (23)  Hypothalamic Diseases [MESH:D007027] (1833)   Bardet-Biedl Syndrome [MESH:D020788] (110)  Pituitary Diseases [MESH:D010900] (1808)  Leukoencephalopathies [MESH:D056784] (1916)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (822)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Neuroaxonal Dystrophies [MESH:D019150] (100)   Neurodegeneration with brain iron accumulation (NBIA) [MESH:C538421] (30)  Pantothenate Kinase-Associated Neurodegeneration [MESH:D006211] (17)   Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration [MESH:C564603] (16)  Central Nervous System Infections [MESH:D002494] (1823)   Central Nervous System Viral Diseases [MESH:D020805] (1416)   Poliomyelitis [MESH:D011051] (56)  Myelitis [MESH:D009187] (69)   Poliomyelitis [MESH:D011051] (54)  Myelitis [MESH:D009187] (69)   Poliomyelitis [MESH:D011051] (54)  Prion Diseases [MESH:D017096] (488)   Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)  Creutzfeldt-Jakob Syndrome [MESH:D007562] (118)  Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)  Insomnia, Fatal Familial [MESH:D034062] (98)  Scrapie [MESH:D012608] (462)  Movement Disorders [MESH:D009069] (4823)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Dystonic Disorders [MESH:D020821] (729)  Hepatolenticular Degeneration [MESH:D006527] (473)  Dyskinesias [MESH:D020820] (1827)   Chorea [MESH:D002819] (651)   Huntington Disease [MESH:D006816] (540)   Huntington Disease-Like 1 [MESH:C566398] (98)  Pantothenate Kinase-Associated Neurodegeneration [MESH:D006211] (17)   Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration [MESH:C564603] (16)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Spinal Cord Diseases [MESH:D013118] (4376)   Poliomyelitis [MESH:D011051] (55)  Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 9 [MESH:C567499] (37)  Myelitis [MESH:D009187] (75)   Poliomyelitis [MESH:D011051] (54)  Demyelinating Diseases [MESH:D003711] (2917)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Multiple Sclerosis [MESH:D009103] (1716)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Nervous System Malformations [MESH:D009421] (3354)   Agenesis of Corpus Callosum [MESH:D061085] (345)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)   Raine syndrome [MESH:C535282] (29)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Nervous System Neoplasms [MESH:D009423] (3073)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Neurodegenerative Diseases [MESH:D019636] (6613)   Familial apoceruloplasmin deficiency [MESH:C536004] (211)  Parkinson Disease [MESH:D010300] (3595)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243)   Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)  Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)  Hepatolenticular Degeneration [MESH:D006527] (473)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Huntington Disease [MESH:D006816] (540)   Huntington Disease-Like 1 [MESH:C566398] (98)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)  Pantothenate Kinase-Associated Neurodegeneration [MESH:D006211] (17)   Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration [MESH:C564603] (16)  Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 9 [MESH:C567499] (37)  Prion Diseases [MESH:D017096] (475)   Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)  Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)  Insomnia, Fatal Familial [MESH:D034062] (98)  Scrapie [MESH:D012608] (462)  Tauopathies [MESH:D024801] (4289)   Alzheimer Disease [MESH:D000544] (4275)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 9 [MESH:C567499] (37)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Neurologic Manifestations [MESH:D009461] (8964)   Reflex, Abnormal [MESH:D012021] (485)  Dyskinesias [MESH:D020820] (3365)   Dystonia [MESH:D004421] (848)  Hyperkinesis [MESH:D006948] (1799)  Neurobehavioral Manifestations [MESH:D019954] (5230)   Communication Disorders [MESH:D003147] (2918)   Learning Disorders [MESH:D007859] (2727)  Language Disorders [MESH:D007806] (653)   Language Development Disorders [MESH:D007805] (351)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Memory Disorders [MESH:D008569] (3233)   Amnesia [MESH:D000647] (1911)  Intellectual Disability [MESH:D008607] (3054)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Coffin-Siris syndrome [MESH:C536436] (102)  Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Cri-du-Chat Syndrome [MESH:D003410] (139)  Mental Retardation, X-Linked [MESH:D038901] (1854)   Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Pain [MESH:D010146] (3875)   Neuralgia [MESH:D009437] (2074)  Paralysis [MESH:D010243] (2043)   Hemiplegia [MESH:D006429] (184)   Familial porencephaly [MESH:C536850] (77)  Seizures [MESH:D012640] (4514)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Sensation Disorders [MESH:D012678] (5011)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   CATSHL syndrome [MESH:C537975] (66)  Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Deafness [MESH:D003638] (623)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 3A [MESH:C567277] (77)  Neuromuscular Diseases [MESH:D009468] (7336)   Poliomyelitis [MESH:D011051] (55)  Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 9 [MESH:C567499] (37)  Muscular Diseases [MESH:D009135] (3538)   Systemic carnitine deficiency [MESH:C536778] (92)  Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58)  Muscular Disorders, Atrophic [MESH:D020966] (1594)   Muscular Dystrophies [MESH:D009136] (1589)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Peripheral Nervous System Diseases [MESH:D010523] (6151)   Neuralgia [MESH:D009437] (2078)  Brachial Plexus Neuropathies [MESH:D020516] (37)   Brachial Plexus Neuritis [MESH:D020968] (31)  Neuritis [MESH:D009443] (55)   Brachial Plexus Neuritis [MESH:D020968] (31)  Polyneuropathies [MESH:D011115] (1134)   Tangier Disease [MESH:D013631] (170)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Polyradiculoneuropathy [MESH:D011129] (213)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Neurotoxicity Syndromes [MESH:D020258] (4570)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  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)  Sleep Initiation and Maintenance Disorders [MESH:D007319] (354)   Insomnia, Fatal Familial [MESH:D034062] (98)  Trauma, Nervous System [MESH:D020196] (3997)   Craniocerebral Trauma [MESH:D006259] (3507)   Brain Injuries [MESH:D001930] (3431) C11. Eye Diseases  C11. Eye Diseases  Eye Diseases [MESH:D005128] (6245)   Corneal Diseases [MESH:D003316] (1445)   Corneal Opacity [MESH:D003318] (544)  Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Sveinsson Chorioretinal Atrophy [MESH:C566236] (22)  Keratitis [MESH:D007634] (168)   Corneal Ulcer [MESH:D003320] (61)  Eye Diseases, Hereditary [MESH:D015785] (1869)   Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Sveinsson Chorioretinal Atrophy [MESH:C566236] (22)  Eye Hemorrhage [MESH:D005130] (94)   Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Eye Infections [MESH:D015817] (110)   Corneal Ulcer [MESH:D003320] (61)  Eye Neoplasms [MESH:D005134] (413)   Uveal Neoplasms [MESH:D014604] (115)   Uveal melanoma [MESH:C536494] (109)  Lacrimal Apparatus Diseases [MESH:D007766] (644)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Lens Diseases [MESH:D007905] (900)   Cataract [MESH:D002386] (860)  Ocular Hypertension [MESH:D009798] (1630)   Glaucoma [MESH:D005901] (1458)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Orbital Diseases [MESH:D009916] (317)   Exophthalmos [MESH:D005094] (297)   Raine syndrome [MESH:C535282] (29)  Retinal Diseases [MESH:D012164] (3747)   Retinal Degeneration [MESH:D012162] (2386)   Sveinsson Chorioretinal Atrophy [MESH:C566236] (22)  Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Uveal Diseases [MESH:D014603] (2428)   Uveitis [MESH:D014605] (2157)  Uveal Neoplasms [MESH:D014604] (115)   Uveal melanoma [MESH:C536494] (109) C12. Male Urogenital Diseases  C12. Male Urogenital Diseases  Male Urogenital Diseases [MESH:D052801] (8891)   Genital Diseases, Male [MESH:D005832] (6794)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Infertility [MESH:D007246] (2909)   Infertility, Male [MESH:D007248] (2851)  Prostatic Diseases [MESH:D011469] (6204)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Testicular Diseases [MESH:D013733] (451)   Cryptorchidism [MESH:D003456] (215)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Urogenital Abnormalities [MESH:D014564] (2065)   Cryptorchidism [MESH:D003456] (215)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  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)  Urogenital Neoplasms [MESH:D014565] (6932)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)   Prostate cancer, familial [MESH:C537243] (264)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Urologic Diseases [MESH:D014570] (7792)   Kidney Diseases [MESH:D007674] (7242)   Diabetic Nephropathies [MESH:D003928] (2301)  Zellweger Syndrome [MESH:D015211] (182)  Hyperoxaluria [MESH:D006959] (1498)   Hyperoxaluria, Primary [MESH:D006960] (63)   Primary hyperoxaluria type 2 [MESH:C536415] (25)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)   Glomerulopathy with fibronectin deposits [MESH:C536826] (244)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)  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)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Uremia [MESH:D014511] (2898)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)   Atypical hemolytic uremic syndrome [MESH:C538266] (277)  Urinary Bladder Diseases [MESH:D001745] (4374)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394) C13. Female Urogenital Diseases and Pregnancy Complications  C13. Female Urogenital Diseases and Pregnancy Complications  Female Urogenital Diseases [MESH:D052776] (8724)   Genital Diseases, Female [MESH:D005831] (5563)   Endometriosis [MESH:D004715] (2461)  Adnexal Diseases [MESH:D000291] (4273)   Ovarian Diseases [MESH:D010049] (4255)   Ovarian Neoplasms [MESH:D010051] (3281)  Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Infertility [MESH:D007246] (2211)   Infertility, Female [MESH:D007247] (2184)  Uterine Diseases [MESH:D014591] (2479)   Uterine Cervical Diseases [MESH:D002577] (988)   Uterine Cervical Neoplasms [MESH:D002583] (978)  Uterine Neoplasms [MESH:D014594] (2430)   Endometrial Neoplasms [MESH:D016889] (1984)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Urogenital Abnormalities [MESH:D014564] (2043)   Disorders of Sex Development [MESH:D012734] (1637)   46, 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)  Urogenital Neoplasms [MESH:D014565] (5792)   Genital Neoplasms, Female [MESH:D005833] (3810)   Ovarian Neoplasms [MESH:D010051] (3281)  Uterine Neoplasms [MESH:D014594] (2433)   Endometrial Neoplasms [MESH:D016889] (1989)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Urologic Diseases [MESH:D014570] (7793)   Kidney Diseases [MESH:D007674] (7242)   Diabetic Nephropathies [MESH:D003928] (2301)  Zellweger Syndrome [MESH:D015211] (182)  Hyperoxaluria [MESH:D006959] (1498)   Hyperoxaluria, Primary [MESH:D006960] (63)   Primary hyperoxaluria type 2 [MESH:C536415] (25)  Kidney Diseases, Cystic [MESH:D052177] (1009)   Polycystic Kidney Diseases [MESH:D007690] (853)   Polycystic Kidney, Autosomal Dominant [MESH:D016891] (522)  Kidney Neoplasms [MESH:D007680] (3966)   Carcinoma, Renal Cell [MESH:D002292] (2975)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)   Glomerulopathy with fibronectin deposits [MESH:C536826] (244)  Nephrosis [MESH:D009401] (2228)   Nephrotic Syndrome [MESH:D009404] (1536)  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)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Uremia [MESH:D014511] (2898)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)   Atypical hemolytic uremic syndrome [MESH:C538266] (277)  Urinary Bladder Diseases [MESH:D001745] (4375)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Pregnancy Complications [MESH:D011248] (4768)   Abortion, Spontaneous [MESH:D000022] (2780)  Diabetes, Gestational [MESH:D016640] (1157)  Prenatal Injuries [MESH:D049188] (1314)  Fetal Diseases [MESH:D005315] (1206)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Obstetric Labor Complications [MESH:D007744] (1550)   Obstetric Labor, Premature [MESH:D007752] (1316)   Premature Birth [MESH:D047928] (118) 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)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Heart Diseases [MESH:D006331] (8614)   Heart Failure [MESH:D006333] (4058)  Pericarditis [MESH:D010493] (69)  Arrhythmias, Cardiac [MESH:D001145] (4679)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Bradycardia [MESH:D001919] (1899)  Cardiomegaly [MESH:D006332] (4081)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1M [MESH:C564390] (53)  Cardiomyopathies [MESH:D009202] (5331)   Systemic carnitine deficiency [MESH:C536778] (92)  Diabetic Cardiomyopathies [MESH:D058065] (1995)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Myocarditis [MESH:D009205] (1708)  Cardiomyopathy, Dilated [MESH:D002311] (1576)   Cardiomyopathy, Dilated, 1M [MESH:C564390] (53)  Heart Defects, Congenital [MESH:D006330] (2443)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Heart Valve Diseases [MESH:D006349] (3333)   Aortic Valve Insufficiency [MESH:D001022] (1002)  Myocardial Ischemia [MESH:D017202] (5787)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Myocardial Stunning [MESH:D017682] (1816)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Myocardial Infarction [MESH:D009203] (4122)   Myocardial Stunning [MESH:D017682] (1816)  Ventricular Dysfunction [MESH:D018754] (2348)   Ventricular Dysfunction, Left [MESH:D018487] (1631)  Vascular Diseases [MESH:D014652] (8691)   Hepatic Veno-Occlusive Disease [MESH:D006504] (208)  Hypertension [MESH:D006973] (5655)  Vascular System Injuries [MESH:D057772] (2086)  Arterial Occlusive Diseases [MESH:D001157] (4520)   Arteriosclerosis [MESH:D001161] (4466)   Atherosclerosis [MESH:D050197] (4188)  Coronary Artery Disease [MESH:D003324] (2685)  Cerebrovascular Disorders [MESH:D002561] (5541)   Carotid Artery Diseases [MESH:D002340] (1993)  Brain Ischemia [MESH:D002545] (4873)   Brain Infarction [MESH:D020520] (2571)   Cerebral Infarction [MESH:D002544] (2458)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Arterial Diseases [MESH:D020765] (2468)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Infarction, Middle Cerebral Artery [MESH:D020244] (2268)  Intracranial Embolism and Thrombosis [MESH:D002542] (550)   Intracranial Thrombosis [MESH:D020767] (481)   Sinus Thrombosis, Intracranial [MESH:D012851] (356)   Sagittal Sinus Thrombosis [MESH:D020225] (223)  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)  Thromboembolism [MESH:D013923] (732)   Intracranial Embolism and Thrombosis [MESH:D002542] (550)   Intracranial Thrombosis [MESH:D020767] (481)   Sinus Thrombosis, Intracranial [MESH:D012851] (356)   Sagittal Sinus Thrombosis [MESH:D020225] (223)  Thrombosis [MESH:D013927] (3101)   Venous Thrombosis [MESH:D020246] (1141)  Thromboembolism [MESH:D013923] (732)   Intracranial Embolism and Thrombosis [MESH:D002542] (550)   Intracranial Thrombosis [MESH:D020767] (481)   Sinus Thrombosis, Intracranial [MESH:D012851] (356)   Sagittal Sinus Thrombosis [MESH:D020225] (223)  Hemostatic Disorders [MESH:D020141] (2894)   Multiple Myeloma [MESH:D009101] (2765)  Myocardial Ischemia [MESH:D017202] (5791)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Myocardial Stunning [MESH:D017682] (1816)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Myocardial Infarction [MESH:D009203] (4151)   Myocardial Stunning [MESH:D017682] (1816)  Peripheral Vascular Diseases [MESH:D016491] (1412)   Raynaud Disease [MESH:D011928] (490)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500) C15. Hemic and Lymphatic Diseases  C15. Hemic and Lymphatic Diseases  Hematologic Diseases [MESH:D006402] (6174)   Pancytopenia [MESH:D010198] (332)  Anemia [MESH:D000740] (3966)   Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)  Anemia, Hemolytic [MESH:D000743] (3083)   Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Sickle Cell [MESH:D000755] (1722)  Spherocytosis, Hereditary [MESH:D013103] (137)  Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)   Majeed syndrome [MESH:C537839] (33)  Thalassemia [MESH:D013789] (501)   beta-Thalassemia [MESH:D017086] (458)  Hemolytic-Uremic Syndrome [MESH:D006463] (2435)   Atypical hemolytic uremic syndrome [MESH:C538266] (277)  Anemia, Macrocytic [MESH:D000748] (382)   Anemia, Megaloblastic [MESH:D000749] (288)  Blood Coagulation Disorders [MESH:D001778] (1828)   Disseminated Intravascular Coagulation [MESH:D004211] (462)  Blood Coagulation Disorders, Inherited [MESH:D025861] (720)   Activated Protein C Resistance [MESH:D020016] (140)  Coagulation Protein Disorders [MESH:D020147] (580)   Activated Protein C Resistance [MESH:D020016] (140)  Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Blood Platelet Disorders [MESH:D001791] (3174)   Thrombocytopenia [MESH:D013921] (2966)   Thrombotic Microangiopathies [MESH:D057049] (2598)   Hemolytic-Uremic Syndrome [MESH:D006463] (2435)   Atypical hemolytic uremic syndrome [MESH:C538266] (277)  Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Blood Protein Disorders [MESH:D001796] (3051)   Hypoproteinemia [MESH:D007019] (1335)   Hypoalbuminemia [MESH:D034141] (1332)  Paraproteinemias [MESH:D010265] (2781)   Multiple Myeloma [MESH:D009101] (2765)  Bone Marrow Diseases [MESH:D001855] (2944)   Anemia, Aplastic [MESH:D000741] (1925)   Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)  Myelodysplastic-Myeloproliferative Diseases [MESH:D054437] (376)   Leukemia, Myelomonocytic, Juvenile [MESH:D054429] (344)  Myeloproliferative Disorders [MESH:D009196] (1492)   Leukemia, Erythroblastic, Acute [MESH:D004915] (89)  Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Hemoglobinopathies [MESH:D006453] (1863)   Anemia, Sickle Cell [MESH:D000755] (1722)  Thalassemia [MESH:D013789] (511)   beta-Thalassemia [MESH:D017086] (458)  Hemorrhagic Disorders [MESH:D006474] (3359)   Disseminated Intravascular Coagulation [MESH:D004211] (462)  Hemostatic Disorders [MESH:D020141] (2932)   Multiple Myeloma [MESH:D009101] (2765)  Leukocyte Disorders [MESH:D007960] (2662)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Leukopenia [MESH:D007970] (1921)   Agranulocytosis [MESH:D000380] (1675)   Neutropenia [MESH:D009503] (1629)  Phagocyte Bactericidal Dysfunction [MESH:D010585] (998)   Job Syndrome [MESH:D007589] (772)   Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant [MESH:C567925] (283)  Thrombophilia [MESH:D019851] (592)   Activated Protein C Resistance [MESH:D020016] (140)  Disseminated Intravascular Coagulation [MESH:D004211] (462)  Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Lymphatic Diseases [MESH:D008206] (5167)   Lymphatic Abnormalities [MESH:D044148] (251)   22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Lymphoproliferative Disorders [MESH:D008232] (4638)   Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, T-Cell [MESH:D015458] (395)  Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  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)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large-Cell, Anaplastic [MESH:D017728] (420)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691) C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  Congenital, Hereditary, and Neonatal Diseases and Abnormalities [MESH:D009358] (12152)   Congenital Abnormalities [MESH:D000013] (8109)   Abnormalities, Multiple [MESH:D000015] (3192)   Raine syndrome [MESH:C535282] (29)  Coffin-Siris syndrome [MESH:C536436] (102)  Vohwinkel syndrome [MESH:C536457] (68)  Ulnar-mammary syndrome [MESH:C536937] (57)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Bardet-Biedl Syndrome [MESH:D020788] (110)  Cri-du-Chat Syndrome [MESH:D003410] (139)  Zellweger Syndrome [MESH:D015211] (182)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Cardiovascular Abnormalities [MESH:D018376] (3294)   Heart Defects, Congenital [MESH:D006330] (2611)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Chromosome Disorders [MESH:D025063] (2030)   Cri-du-Chat Syndrome [MESH:D003410] (139)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Lymphatic Abnormalities [MESH:D044148] (251)   22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Musculoskeletal Abnormalities [MESH:D009139] (3779)   Craniofacial Abnormalities [MESH:D019465] (3064)   22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Craniofacial Dysostosis [MESH:D003394] (391)   Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)  Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  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)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Microcephaly [MESH:D008831] (700)   Raine syndrome [MESH:C535282] (29)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Plagiocephaly [MESH:D059041] (440)   Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Limb Deformities, Congenital [MESH:D017880] (1813)   Hypochondroplasia [MESH:C562937] (66)  Hand Deformities, Congenital [MESH:D006228] (587)   Coffin-Siris syndrome [MESH:C536436] (102)  Vohwinkel syndrome [MESH:C536457] (68)  Jacobs syndrome [MESH:C537560] (19)  CATSHL syndrome [MESH:C537975] (66)  Syndactyly [MESH:D013576] (487)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Synostosis [MESH:D013580] (817)   Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Craniosynostoses [MESH:D003398] (438)   Muenke Syndrome [MESH:C537369] (66)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Syndactyly [MESH:D013576] (487)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Acrocephalosyndactylia [MESH:D000168] (201)   Acrocephalopolysyndactyly Type II [MESH:C563187] (27)  Nervous System Malformations [MESH:D009421] (3354)   Agenesis of Corpus Callosum [MESH:D061085] (345)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Central Nervous System Cysts [MESH:D020863] (57)   Arachnoid Cysts [MESH:D016080] (50)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)   Raine syndrome [MESH:C535282] (29)  Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Skin Abnormalities [MESH:D012868] (1723)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Epidermolysis Bullosa [MESH:D004820] (260)   Epidermolysis Bullosa, Junctional [MESH:D016109] (152)   Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)  Ichthyosis [MESH:D007057] (481)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Micrognathism [MESH:D008844] (230)   Coffin-Siris syndrome [MESH:C536436] (102)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)  Cleft Palate [MESH:D002972] (1330)   Raine syndrome [MESH:C535282] (29)  Tooth Abnormalities [MESH:D014071] (622)   Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Urogenital Abnormalities [MESH:D014564] (2064)   Cryptorchidism [MESH:D003456] (215)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  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)  Fetal Diseases [MESH:D005315] (1205)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Genetic Diseases, Inborn [MESH:D030342] (9766)   Cirrhosis, Familial [MESH:C566123] (179)  Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Anemia, Hypoplastic, Congenital [MESH:D029502] (1665)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Sickle Cell [MESH:D000755] (1722)  Spherocytosis, Hereditary [MESH:D013103] (137)  Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)   Majeed syndrome [MESH:C537839] (33)  Thalassemia [MESH:D013789] (501)   beta-Thalassemia [MESH:D017086] (458)  Blood Coagulation Disorders, Inherited [MESH:D025861] (722)   Activated Protein C Resistance [MESH:D020016] (140)  Chromosome Disorders [MESH:D025063] (2030)   Cri-du-Chat Syndrome [MESH:D003410] (139)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 4 [MESH:C564180] (70)  Dwarfism [MESH:D004392] (783)   Hypochondroplasia [MESH:C562937] (66)  Achondroplasia [MESH:D000130] (196)   Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66)  Eye Diseases, Hereditary [MESH:D015785] (1867)   Corneal Dystrophies, Hereditary [MESH:D003317] (341)   Sveinsson Chorioretinal Atrophy [MESH:C566236] (22)  Genetic Diseases, X-Linked [MESH:D040181] (3028)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Spondyloepiphyseal Dysplasia Tarda, X-Linked [MESH:C562447] (13)  Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Mental Retardation, X-Linked [MESH:D038901] (1867)   Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Hemoglobinopathies [MESH:D006453] (1863)   Anemia, Sickle Cell [MESH:D000755] (1722)  Thalassemia [MESH:D013789] (511)   beta-Thalassemia [MESH:D017086] (458)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465)   Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)  Gerstmann-Straussler-Scheinker Disease [MESH:D016098] (98)  Hepatolenticular Degeneration [MESH:D006527] (473)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 1C [MESH:C537984] (69)  Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Huntington Disease [MESH:D006816] (540)   Huntington Disease-Like 1 [MESH:C566398] (98)  Mental Retardation, X-Linked [MESH:D038901] (1848)   Mental Retardation, X-Linked, Syndromic 14 [MESH:C567063] (30)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)  Pantothenate Kinase-Associated Neurodegeneration [MESH:D006211] (17)   Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration [MESH:C564603] (16)  Metabolism, Inborn Errors [MESH:D008661] (6032)   Malonic aciduria [MESH:C535702] (31)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565)   Methylmalonic Aciduria and Homocystinuria, CblD Type [MESH:C564743] (10)  Tyrosinemias [MESH:D020176] (132)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis IX [MESH:C562643] (52)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Tyrosinemias [MESH:D020176] (132)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Hyperoxaluria, Primary [MESH:D006960] (63)   Primary hyperoxaluria type 2 [MESH:C536415] (25)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58)  Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (365)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hepatolenticular Degeneration [MESH:D006527] (473)  Hemochromatosis [MESH:D006432] (1694)   Hemochromatosis, type 4 [MESH:C537249] (89)  Hypophosphatasia [MESH:D007014] (142)   Hypophosphatasia, Childhood [MESH:C562440] (137)  Hypophosphatasia, Infantile [MESH:C562646] (137)  Hypophosphatasia, Adult [MESH:C562647] (137)  Peroxisomal Disorders [MESH:D018901] (1788)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496)   Oroticaciduria 1 [MESH:C537136] (41)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1027)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Cortisone reductase deficiency [MESH:C536447] (136)  Lathosterolosis [MESH:C537880] (66)  Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Muscular Dystrophies [MESH:D009136] (1597)   Muscular Dystrophy, Facioscapulohumeral [MESH:D020391] (854)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)  Exostoses, Multiple Hereditary [MESH:D005097] (154)   Stuve-Wiedemann syndrome [MESH:C537502] (66)  Skin Diseases, Genetic [MESH:D012873] (3456)   Amyloidosis IX [MESH:C562643] (52)  Darier Disease [MESH:D007644] (125)  Dermatitis, Atopic [MESH:D003876] (2052)  Hyalinosis, Systemic [MESH:D057770] (24)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Epidermolysis Bullosa [MESH:D004820] (259)   Epidermolysis Bullosa, Junctional [MESH:D016109] (152)   Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Infant, Newborn, Diseases [MESH:D007232] (3064)   Congenital Hyperinsulinism [MESH:D044903] (132)  Ichthyosis [MESH:D007057] (476)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Severe Combined Immunodeficiency [MESH:D016511] (315)   Bare lymphocyte syndrome 2 [MESH:C537079] (61)  Thanatophoric Dysplasia [MESH:D013796] (147)   Thanatophoric dysplasia, type 1 [MESH:C536507] (66)  Thanatophoric dysplasia, type 2 [MESH:C536508] (66) C17. Skin and Connective Tissue Diseases  C17. Skin and Connective Tissue Diseases  Connective Tissue Diseases [MESH:D003240] (4490)   Cellulitis [MESH:D002481] (88)  Collagen Diseases [MESH:D003095] (1267)   Keloid [MESH:D007627] (1111)  Rheumatic Diseases [MESH:D012216] (3619)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Skin Diseases [MESH:D012871] (8774)   Acneiform Eruptions [MESH:D017486] (1312)   Chloracne [MESH:D054506] (1274)  Breast Diseases [MESH:D001941] (6148)   Ulnar-mammary syndrome [MESH:C536937] (57)  Breast Neoplasms [MESH:D001943] (6077)   Breast Neoplasms, Male [MESH:D018567] (650)  Carcinoma, Ductal, Breast [MESH:D018270] (1112)  Dermatitis [MESH:D003872] (4530)   Dermatitis, Atopic [MESH:D003876] (2052)  Eczema [MESH:D004485] (235)  Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  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)   Hypotrichosis simplex [MESH:C537160] (92)  Alopecia [MESH:D000505] (1453)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Keratosis [MESH:D007642] (1941)   Darier Disease [MESH:D007644] (125)  Ichthyosis [MESH:D007057] (481)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Pigmentation Disorders [MESH:D010859] (1215)   Hyperpigmentation [MESH:D017495] (523)   Melanosis [MESH:D008548] (459)   Acanthosis Nigricans [MESH:D000052] (203)   Crouzon Syndrome With Acanthosis Nigricans [MESH:C567382] (66)  Skin Abnormalities [MESH:D012868] (1709)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Epidermolysis Bullosa [MESH:D004820] (260)   Epidermolysis Bullosa, Junctional [MESH:D016109] (152)   Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)  Ichthyosis [MESH:D007057] (481)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Skin Diseases, Eczematous [MESH:D017443] (3740)   Dermatitis, Atopic [MESH:D003876] (2052)  Eczema [MESH:D004485] (235)  Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Skin Diseases, Genetic [MESH:D012873] (3481)   Amyloidosis IX [MESH:C562643] (52)  Darier Disease [MESH:D007644] (125)  Dermatitis, Atopic [MESH:D003876] (2052)  Hyalinosis, Systemic [MESH:D057770] (24)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Epidermolysis Bullosa [MESH:D004820] (260)   Epidermolysis Bullosa, Junctional [MESH:D016109] (152)   Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)  Keratoderma, Palmoplantar [MESH:D007645] (287)   Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Skin Diseases, Infectious [MESH:D012874] (2684)   Skin Diseases, Bacterial [MESH:D017192] (156)   Hidradenitis Suppurativa [MESH:D017497] (120)  Skin Diseases, Papulosquamous [MESH:D017444] (3392)   Psoriasis [MESH:D011565] (3278)  Skin Diseases, Vascular [MESH:D017445] (3288)   Urticaria [MESH:D014581] (2668)  Skin Diseases, Vesiculobullous [MESH:D012872] (1754)   Epidermolysis Bullosa [MESH:D004820] (260)   Epidermolysis Bullosa, Junctional [MESH:D016109] (152)   Epidermolysis Bullosa, Junctional, Non-Herlitz Type [MESH:C562639] (150)  Skin Neoplasms [MESH:D012878] (2991)   Nevus, Epidermal [MESH:C562736] (112)  Sweat Gland Diseases [MESH:D013543] (231)   Hidradenitis [MESH:D016575] (121)   Hidradenitis Suppurativa [MESH:D017497] (120) C18. Nutritional and Metabolic Diseases  C18. Nutritional and Metabolic Diseases  Metabolic Diseases [MESH:D008659] (9025)   Metabolic Syndrome X [MESH:D024821] (2151)  Mitochondrial Diseases [MESH:D028361] (2561)  Acid-Base Imbalance [MESH:D000137] (854)   Acidosis [MESH:D000138] (626)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Brain Diseases, Metabolic [MESH:D001928] (3350)   Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Tyrosinemias [MESH:D020176] (132)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Calcium Metabolism Disorders [MESH:D002128] (3634)   Calcinosis [MESH:D002114] (2989)  DNA Repair-Deficiency Disorders [MESH:D049914] (2245)   Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Severe Combined Immunodeficiency [MESH:D016511] (294)   Bare lymphocyte syndrome 2 [MESH:C537079] (61)  Glucose Metabolism Disorders [MESH:D044882] (6122)   Diabetes Mellitus [MESH:D003920] (5891)   Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes, Gestational [MESH:D016640] (1152)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)   Maturity-Onset Diabetes of the Young, Type 2 [MESH:C564219] (82)  Hyperglycemia [MESH:D006943] (1858)   Glucose Intolerance [MESH:D018149] (605)  Hyperinsulinism [MESH:D006946] (3586)   Hyperinsulinemic hypoglycemia, familial, 3 [MESH:C538374] (82)  Congenital Hyperinsulinism [MESH:D044903] (132)  Insulin Resistance [MESH:D007333] (3511)   Metabolic Syndrome X [MESH:D024821] (2151)  Hypoglycemia [MESH:D007003] (2420)   Hyperinsulinemic hypoglycemia, familial, 3 [MESH:C538374] (82)  Congenital Hyperinsulinism [MESH:D044903] (132)  Iron Metabolism Disorders [MESH:D019189] (2139)   Familial apoceruloplasmin deficiency [MESH:C536004] (211)  Neurodegeneration with brain iron accumulation (NBIA) [MESH:C538421] (30)  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)  Hyperlipoproteinemias [MESH:D006951] (903)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (409)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipid Metabolism, Inborn Errors [MESH:D008052] (461)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Malabsorption Syndromes [MESH:D008286] (1869)   Celiac Disease [MESH:D002446] (340)  Metabolism, Inborn Errors [MESH:D008661] (6028)   Malonic aciduria [MESH:C535702] (31)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559)   Methylmalonic Aciduria and Homocystinuria, CblD Type [MESH:C564743] (10)  Tyrosinemias [MESH:D020176] (132)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis IX [MESH:C562643] (52)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Tyrosinemias [MESH:D020176] (132)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Hyperlysinemias [MESH:D020167] (39)   Saccharopinuria [MESH:C537218] (36)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Peroxisomal Disorders [MESH:D018901] (1472)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Ornithine Carbamoyltransferase Deficiency Disease [MESH:D020163] (56)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Hyperoxaluria, Primary [MESH:D006960] (63)   Primary hyperoxaluria type 2 [MESH:C536415] (25)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Neutral Lipid Storage Disease with Myopathy [MESH:C565192] (58)  Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hypolipoproteinemias [MESH:D007009] (365)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipidoses [MESH:D008064] (1655)   Neuronal Ceroid-Lipofuscinoses [MESH:D009472] (1026)   Ceroid lipofuscinosis, neuronal 1, infantile [MESH:C537948] (946)  Ceroid lipofuscinosis, neuronal 8 [MESH:C537952] (28)  Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Gaucher Disease [MESH:D005776] (299)   Gaucher Disease, Atypical, Due To Saposin C Deficiency [MESH:C566435] (56)  Leukodystrophy, Globoid Cell [MESH:D007965] (65)   Krabbe Disease, Atypical, due to Saposin A Deficiency [MESH:C567097] (56)  Sulfatidosis [MESH:D052516] (86)   Leukodystrophy, Metachromatic [MESH:D007966] (76)   Metachromatic Leukodystrophy due to Saposin B Deficiency [MESH:C562609] (56)  Combined Saposin Deficiency [MESH:C567125] (56)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hepatolenticular Degeneration [MESH:D006527] (473)  Hemochromatosis [MESH:D006432] (1694)   Hemochromatosis, type 4 [MESH:C537249] (89)  Hypophosphatasia [MESH:D007014] (142)   Hypophosphatasia, Childhood [MESH:C562440] (137)  Hypophosphatasia, Infantile [MESH:C562646] (137)  Hypophosphatasia, Adult [MESH:C562647] (137)  Peroxisomal Disorders [MESH:D018901] (1788)   Peroxisome biogenesis disorders [MESH:C536664] (101)  Zellweger Syndrome [MESH:D015211] (182)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Purine-Pyrimidine Metabolism, Inborn Errors [MESH:D011686] (496)   Oroticaciduria 1 [MESH:C537136] (41)  Renal Tubular Transport, Inborn Errors [MESH:D015499] (1026)   Acidosis, Renal Tubular [MESH:D000141] (225)   Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Cortisone reductase deficiency [MESH:C536447] (136)  Lathosterolosis [MESH:C537880] (66)  Adrenal Hyperplasia, Congenital [MESH:D000312] (674)  Antley-Bixler Syndrome Phenotype [MESH:D054882] (284)  Phosphorus Metabolism Disorders [MESH:D010760] (711)   Hypophosphatemia [MESH:D017674] (640)  Proteostasis Deficiencies [MESH:D057165] (3522)   Amyloidosis [MESH:D000686] (791)   Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis IX [MESH:C562643] (52)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Amyotrophic Lateral Sclerosis 9 [MESH:C567499] (37)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)  Water-Electrolyte Imbalance [MESH:D014883] (2790)   Hypokalemia [MESH:D007008] (1041)  Nutrition Disorders [MESH:D009748] (4945)   Malnutrition [MESH:D044342] (2754)   Deficiency Diseases [MESH:D003677] (2742)   Avitaminosis [MESH:D001361] (2304)   Vitamin A Deficiency [MESH:D014802] (705)  Vitamin B Deficiency [MESH:D014804] (1817)   Folic Acid Deficiency [MESH:D005494] (134)  Overnutrition [MESH:D044343] (4463)   Obesity [MESH:D009765] (4462)   Obesity, Abdominal [MESH:D056128] (115)  Obesity, Morbid [MESH:D009767] (515) 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)   Glucocorticoid Deficiency 2 [MESH:C564577] (27)  Adrenoleukodystrophy [MESH:D000326] (1348)   Peroxisomal ACYL-COA oxidase deficiency [MESH:C536662] (129)  Adrenocortical Hyperfunction [MESH:D000308] (618)   Hyperaldosteronism [MESH:D006929] (419)  Diabetes Mellitus [MESH:D003920] (6159)   Diabetes Mellitus, Permanent Neonatal [MESH:C563425] (321)  Diabetes, Gestational [MESH:D016640] (1152)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Complications [MESH:D048909] (4129)   Diabetic Cardiomyopathies [MESH:D058065] (1995)  Diabetic Nephropathies [MESH:D003928] (2301)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)   Maturity-Onset Diabetes of the Young, Type 2 [MESH:C564219] (82)  Dwarfism [MESH:D004392] (698)   Hypochondroplasia [MESH:C562937] (66)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)  Pancreatic Neoplasms [MESH:D010190] (3820)  Gonadal Disorders [MESH:D006058] (5088)   Hypogonadism [MESH:D007006] (1123)  Puberty, Delayed [MESH:D011628] (449)  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)  Ovarian Diseases [MESH:D010049] (4253)   Ovarian Neoplasms [MESH:D010051] (3281)  Ovarian Cysts [MESH:D010048] (2534)   Polycystic Ovary Syndrome [MESH:D011085] (2186)  Testicular Diseases [MESH:D013733] (777)   Cryptorchidism [MESH:D003456] (215)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Parathyroid Diseases [MESH:D010279] (1604)   Hypoparathyroidism [MESH:D007011] (376)   22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Pituitary Diseases [MESH:D010900] (1829)   Hyperpituitarism [MESH:D006964] (1259)   Gigantism [MESH:D005877] (46)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45) C20. Immune System Diseases  C20. Immune System Diseases  Immune System Diseases [MESH:D007154] (7674)   Autoimmune Diseases [MESH:D001327] (5067)   Arthritis, Rheumatoid [MESH:D001172] (3601)  Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732)   Multiple Sclerosis [MESH:D009103] (1716)  Nervous System Autoimmune Disease, Experimental [MESH:D020721] (810)   Encephalomyelitis, Autoimmune, Experimental [MESH:D004681] (806)  Polyradiculoneuropathy [MESH:D011129] (197)   Hereditary Sensory and Autonomic Neuropathies [MESH:D009477] (172)   Neuropathy, Hereditary Sensory And Autonomic, Type IIB [MESH:C567738] (28)  Glomerulonephritis, Membranoproliferative [MESH:D015432] (770)   Glomerulopathy with fibronectin deposits [MESH:C536826] (244)  Hypersensitivity [MESH:D006967] (5873)   Hypersensitivity, Delayed [MESH:D006968] (3408)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Hypersensitivity, Immediate [MESH:D006969] (4980)   Dermatitis, Atopic [MESH:D003876] (2052)  Urticaria [MESH:D014581] (2668)  Respiratory Hypersensitivity [MESH:D012130] (4250)   Asthma [MESH:D001249] (3914)  Immunologic Deficiency Syndromes [MESH:D007153] (3788)   MYD88 Deficiency [MESH:C567379] (79)  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)  Severe Combined Immunodeficiency [MESH:D016511] (315)   Bare lymphocyte syndrome 2 [MESH:C537079] (61)  Immunoproliferative Disorders [MESH:D007160] (4761)   Lymphoproliferative Disorders [MESH:D008232] (4734)   Multiple Myeloma [MESH:D009101] (2767)  Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, T-Cell [MESH:D015458] (395)  Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  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)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Mantle-Cell [MESH:D020522] (561)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, 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)   Hepatitis, Animal [MESH:D006520] (260)  Mammary Neoplasms, Animal [MESH:D015674] (2735)  Sheep Diseases [MESH:D012757] (473)   Scrapie [MESH:D012608] (462) C23. Pathological Conditions, Signs and Symptoms  C23. Pathological Conditions, Signs and Symptoms  Pathological Conditions, Anatomical [MESH:D020763] (6074)   Atrophy [MESH:D001284] (2603)  Plaque, Atherosclerotic [MESH:D058226] (696)  Agenesis of Corpus Callosum [MESH:D061085] (197)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Alopecia [MESH:D000505] (1383)   Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis [MESH:C564365] (78)  Hernia [MESH:D006547] (2825)   Hernia, Diaphragmatic [MESH:D006548] (2647)  Hypertrophy [MESH:D006984] (4476)   Hepatomegaly [MESH:D006529] (1169)  Splenomegaly [MESH:D013163] (1258)  Cardiomegaly [MESH:D006332] (3802)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Torsion Abnormality [MESH:D014102] (33)   Bone Anteversion [MESH:D060750] (22)   Coxa Vara [MESH:D060905] (21)   Jacobs syndrome [MESH:C537560] (19)  Pathologic Processes [MESH:D010335] (9863)   Chromosome Aberrations [MESH:D002869] (2352)  Hyperplasia [MESH:D006965] (2463)  Necrosis [MESH:D009336] (4019)  Nerve Degeneration [MESH:D009410] (4061)  Arrhythmias, Cardiac [MESH:D001145] (4658)   Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Bradycardia [MESH:D001919] (1899)  Disease Attributes [MESH:D020969] (3654)   Disease Progression [MESH:D018450] (2868)  Recurrence [MESH:D012008] (830)  Fibrosis [MESH:D005355] (3133)   Cicatrix [MESH:D002921] (1115)   Keloid [MESH:D007627] (1110)  Growth Disorders [MESH:D006130] (2438)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Hemorrhage [MESH:D006470] (4451)   Eye Hemorrhage [MESH:D005130] (94)   Retinal Hemorrhage [MESH:D012166] (84)   Brain Small Vessel Disease with Hemorrhage [MESH:C564372] (77)  Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Hyperammonemia [MESH:D022124] (322)   Systemic carnitine deficiency [MESH:C536778] (92)  Inflammation [MESH:D007249] (5241)   Acute-Phase Reaction [MESH:D000210] (40)  Suppuration [MESH:D013492] (117)   Cellulitis [MESH:D002481] (87)  Systemic Inflammatory Response Syndrome [MESH:D018746] (3563)   Sepsis [MESH:D018805] (3562)   Bacteremia [MESH:D016470] (1369)   Endotoxemia [MESH:D019446] (1289)  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)   Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Shock [MESH:D012769] (2550)   Multiple Organ Failure [MESH:D009102] (1836)  Signs and Symptoms [MESH:D012816] (10659)   Edema [MESH:D004487] (3726)  Body Weight [MESH:D001835] (4972)   Birth Weight [MESH:D001724] (377)  Body Weight Changes [MESH:D001836] (3206)   Weight Gain [MESH:D015430] (2595)  Overweight [MESH:D050177] (4455)   Obesity [MESH:D009765] (4454)   Obesity, Morbid [MESH:D009767] (515)  Neurologic Manifestations [MESH:D009461] (8702)   Reflex, Abnormal [MESH:D012021] (485)  Seizures [MESH:D012640] (4502)  Dyskinesias [MESH:D020820] (3285)   Dystonia [MESH:D004421] (848)  Hyperkinesis [MESH:D006948] (1799)  Neurobehavioral Manifestations [MESH:D019954] (4706)   Communication Disorders [MESH:D003147] (2918)   Learning Disorders [MESH:D007859] (2727)  Language Disorders [MESH:D007806] (653)   Language Development Disorders [MESH:D007805] (351)   Guanidinoacetate methyltransferase deficiency [MESH:C537622] (60)  Memory Disorders [MESH:D008569] (3233)   Amnesia [MESH:D000647] (1911)  Intellectual Disability [MESH:D008607] (1476)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Coffin-Siris syndrome [MESH:C536436] (102)  Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Neuromuscular Manifestations [MESH:D020879] (2130)   Muscle Cramp [MESH:D009120] (135)   Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps [MESH:C567088] (77)  Pain [MESH:D010146] (3869)   Neuralgia [MESH:D009437] (2074)  Paralysis [MESH:D010243] (2298)   Hemiplegia [MESH:D006429] (184)   Familial porencephaly [MESH:C536850] (77)  Sensation Disorders [MESH:D012678] (5009)   Hearing Disorders [MESH:D006311] (2101)   Hearing Loss [MESH:D034381] (2066)   CATSHL syndrome [MESH:C537975] (66)  Lacrimoauriculodentodigital syndrome [MESH:C538132] (149)  Deafness [MESH:D003638] (593)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Chudley-Mccullough syndrome [MESH:C535459] (45)  Keratoderma palmoplantar deafness [MESH:C536152] (68)  Vohwinkel syndrome [MESH:C536457] (68)  Knuckle pads, leuconychia and sensorineural deafness [MESH:C537210] (68)  Deafness, Autosomal Recessive 1A [MESH:C567134] (88)  Deafness, Autosomal Dominant 3A [MESH:C567277] (77)  Pain [MESH:D010146] (4511)   Neuralgia [MESH:D009437] (2074)  Signs and Symptoms, Digestive [MESH:D012817] (3095)   Diarrhea [MESH:D003967] (858)  Hyperphagia [MESH:D006963] (206)  Skin Manifestations [MESH:D012877] (1250)   Purpura [MESH:D011693] (475)   Purpura, Thrombocytopenic [MESH:D011696] (237)   Purpura, Thrombotic Thrombocytopenic [MESH:D011697] (222)  Urological Manifestations [MESH:D020924] (3532)   Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  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)  Poisoning [MESH:D011041] (6703)   Arsenic Poisoning [MESH:D020261] (2540)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Neurotoxicity Syndromes [MESH:D020258] (3323)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Substance-Related Disorders [MESH:D019966] (6308)   Amphetamine-Related Disorders [MESH:D019969] (2858)  Cocaine-Related Disorders [MESH:D019970] (3054)  Tobacco Use Disorder [MESH:D014029] (628)  Alcohol-Related Disorders [MESH:D019973] (3869)   Alcoholism [MESH:D000437] (1519)  Alcohol-Induced Disorders [MESH:D020751] (3350)   Alcohol-Induced Disorders, Nervous System [MESH:D020268] (128)   Alcohol Withdrawal Seizures [MESH:D020270] (64)  Liver Diseases, Alcoholic [MESH:D008108] (3243)   Liver Cirrhosis, Alcoholic [MESH:D008104] (3066)  Substance Withdrawal Syndrome [MESH:D013375] (2956)   Alcohol Withdrawal Seizures [MESH:D020270] (64) C26. Wounds and Injuries  C26. Wounds and Injuries  Z. Exceptions (2454)   Not Fully Specified [NFS] (2454)  Wounds and Injuries [MESH:D014947] (5171)   Fractures, Bone [MESH:D050723] (597)  Vascular System Injuries [MESH:D057772] (2086)  Craniocerebral Trauma [MESH:D006259] (3523)   Brain Injuries [MESH:D001930] (3431)  Thoracic Injuries [MESH:D013898] (1831)   Lung Injury [MESH:D055370] (1814)  Trauma, Nervous System [MESH:D020196] (3535)   Craniocerebral Trauma [MESH:D006259] (3507)   Brain Injuries [MESH:D001930] (3431) D02. Organic Chemicals  D02. Organic Chemicals  Organic Chemicals [MESH:D009930] (75987)   Carboxylic Acids [MESH:D002264] (13103)   Acids, Acyclic [MESH:D000144] (7142)   Butyrates [MESH:D002087] (645)   Aminobutyrates [MESH:D000613] (216)   gamma-Aminobutyric Acid [MESH:D005680] (108)  Imides [MESH:D007094] (819)   Pantothenic Acid [MESH:D010205] (27) D12. Amino Acids, Peptides, and Proteins  D12. Amino Acids, Peptides, and Proteins  Amino Acids [MESH:D000596] (5544)   Alanine [MESH:D000409] (437)   beta-Alanine [MESH:D015091] (105)   Pantothenic Acid [MESH:D010205] (27)  Aminobutyrates [MESH:D000613] (221)   gamma-Aminobutyric Acid [MESH:D005680] (96) D27. Chemical Actions and Uses  D27. Chemical Actions and Uses  Pharmacologic Actions [MESH:D020228] (2566)   Therapeutic Uses [MESH:D045506] (1611)   Central Nervous System Agents [MESH:D002491] (323)   Nootropic Agents [MESH:D018697] (11) 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)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Coffin-Siris syndrome [MESH:C536436] (102)  Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Mental Disorders [MESH:D001523] (2063)   Spongiform Encephalopathy with Neuropsychiatric Features [MESH:C564678] (98)  Delirium, Dementia, Amnestic, Cognitive Disorders [MESH:D019965] (487)   Cognition Disorders [MESH:D003072] (115)   Huntington Disease [MESH:D006816] (102)   Huntington Disease-Like 1 [MESH:C566398] (98)  Dementia [MESH:D003704] (471)   Huntington Disease [MESH:D006816] (102)   Huntington Disease-Like 1 [MESH:C566398] (98)  Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245)   Intellectual Disability [MESH:D008607] (1109)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Coffin-Siris syndrome [MESH:C536436] (102)  Simpson-Golabi-Behmel syndrome [MESH:C537340] (45)  Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation [MESH:C567038] (48)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  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)