Item 26 of 83 (back to results) previous next   flusilazole C061365               MeSH Unique Identifier: C061365 Chemical – Gene Interaction Note 1: Flusilazole results in decreased activity of CYP19A1 protein Note 2: Flusilazole results in decreased activity of CYP51A1 protein Click here for more information

Current search: C05. Musculoskeletal Diseases: Musculoskeletal Diseases [MESH:D009140] > Musculoskeletal Abnormalities [MESH:D009139] > Craniofacial Abnormalities [MESH:D019465] > Microcephaly [MESH:D008831] > Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] × Select any link to see items in a related category. more general categories    information about this item 1. Human Genes  1. Human Genes  Cytochrome P450s [HGNC:CYP] (1673)   cytochrome P450, family 19, subfamily A, polypeptide 01 [HGNC:CYP19A1] (210)  Nuclear hormone receptors [HGNC:NR] (1322)   peroxisome proliferator-activated receptor delta [HGNC:PPARD] (67) 2. Interaction: Human Genes and Chemicals  2. Interaction: Human Genes and Chemicals  Decreases (5154)   activity (2549)  Increases (5571)   activity (2865) 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)   Extremities [MESH:D005121] (484)   Upper Extremity [MESH:D034941] (441)   Hand [MESH:D006225] (428)   Fingers [MESH:D005385] (422)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Holoprosencephaly 9 [MESH:C563659] (35)  Head [MESH:D006257] (523)   Face [MESH:D005145] (387)   Kniest dysplasia [MESH:C537207] (89)  Frontonasal dysplasia [MESH:C538065] (52)  Mouth [MESH:D009055] (40)   Lip [MESH:D008046] (39)   Van der Woude syndrome [MESH:C536528] (33)  Musculoskeletal System [MESH:D009141] (1255)   Skeleton [MESH:D012863] (1177)   Joints [MESH:D007596] (126)   Knee Joint [MESH:D007719] (38)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Urogenital System [MESH:D014566] (986)   Genitalia [MESH:D005835] (400)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Urinary Tract [MESH:D014551] (721)   Kidney [MESH:D007668] (707)   Nephrons [MESH:D009399] (518)   Kidney Tubules [MESH:D007684] (510)   Kidney Tubules, Proximal [MESH:D007687] (504)   Allanson Pantzar McLeod syndrome [MESH:C537048] (503)  Endocrine System [MESH:D004703] (206)   Endocrine Glands [MESH:D004702] (193)   Pituitary Gland [MESH:D010902] (45)   Pituitary Gland, Anterior [MESH:D010903] (41)   Holoprosencephaly 9 [MESH:C563659] (35)  Neurosecretory Systems [MESH:D009490] (49)   Hypothalamo-Hypophyseal System [MESH:D007030] (47)   Pituitary Gland [MESH:D010902] (45)   Pituitary Gland, Anterior [MESH:D010903] (41)   Holoprosencephaly 9 [MESH:C563659] (35)  Nervous System [MESH:D009420] (587)   Central Nervous System [MESH:D002490] (371)   Brain [MESH:D001921] (349)   Brain Stem [MESH:D001933] (120)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Prosencephalon [MESH:D016548] (154)   Diencephalon [MESH:D004027] (80)   Hypothalamus [MESH:D007031] (62)   Hypothalamus, Middle [MESH:D007033] (52)   Hypothalamo-Hypophyseal System [MESH:D007030] (47)   Pituitary Gland [MESH:D010902] (45)   Pituitary Gland, Anterior [MESH:D010903] (41)   Holoprosencephaly 9 [MESH:C563659] (35)  Neurosecretory Systems [MESH:D009490] (52)   Hypothalamo-Hypophyseal System [MESH:D007030] (47)   Pituitary Gland [MESH:D010902] (45)   Pituitary Gland, Anterior [MESH:D010903] (41)   Holoprosencephaly 9 [MESH:C563659] (35)  Peripheral Nervous System [MESH:D017933] (188)   Peripheral Nerves [MESH:D010525] (138)   Cranial Nerves [MESH:D003391] (96)   Optic Nerve [MESH:D009900] (70)   Coloboma of optic nerve [MESH:C535970] (43)  Sense Organs [MESH:D012679] (1060)   Eye [MESH:D005123] (858)   Anterior Eye Segment [MESH:D000869] (664)   Peters anomaly [MESH:C537884] (465)  Stomatognathic System [MESH:D013284] (673)   Mouth [MESH:D009055] (194)   Lip [MESH:D008046] (42)   Van der Woude syndrome [MESH:C536528] (33) C01. Bacterial Infections and Mycoses  C01. Bacterial Infections and Mycoses  Infection [MESH:D007239] (4109)   Eye Infections [MESH:D015817] (86)   Corneal Ulcer [MESH:D003320] (61) C02. Virus Diseases  C02. Virus Diseases  Virus Diseases [MESH:D014777] (4544)   DNA Virus Infections [MESH:D004266] (2474)   Herpesviridae Infections [MESH:D006566] (1944)   Epstein-Barr Virus Infections [MESH:D020031] (695)   Burkitt Lymphoma [MESH:D002051] (691)  RNA Virus Infections [MESH:D012327] (4215)   Retroviridae Infections [MESH:D012192] (3420)   Lentivirus Infections [MESH:D016180] (3408)   HIV Infections [MESH:D015658] (3402)  Sexually Transmitted Diseases [MESH:D012749] (3305)   Sexually Transmitted Diseases, Viral [MESH:D015229] (3304)   HIV Infections [MESH:D015658] (3296)  Tumor Virus Infections [MESH:D014412] (1069)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691) C03. Parasitic Diseases  C03. Parasitic Diseases  Parasitic Diseases [MESH:D010272] (3828)   Protozoan Infections [MESH:D011528] (3014)   Euglenozoa Infections [MESH:D056986] (2552)   Leishmaniasis [MESH:D007896] (2541)  Skin Diseases, Parasitic [MESH:D012876] (2541)   Leishmaniasis [MESH:D007896] (2516) C04. Neoplasms  C04. Neoplasms  Neoplasms [MESH:D009369] (10293)   Precancerous Conditions [MESH:D011230] (2858)  Cysts [MESH:D003560] (2625)   Van der Woude syndrome [MESH:C536528] (33)  Bone Cysts [MESH:D001845] (78)   Jaw Cysts [MESH:D007570] (74)   Odontogenic Cysts [MESH:D009807] (72)   Basal Cell Nevus Syndrome [MESH:D001478] (67)  Dermoid Cyst [MESH:D003884] (34)   Ring dermoid of cornea [MESH:C535684] (29)  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, 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)  Leukemia, Myeloid [MESH:D007951] (2773)   Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Leukemia, Myeloid, Acute [MESH:D015470] (2176)  Lymphatic Vessel Tumors [MESH:D018190] (171)   Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3686)   Lymphoma, Non-Hodgkin [MESH:D008228] (3337)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Neoplasms, Complex and Mixed [MESH:D018193] (1121)   Hepatoblastoma [MESH:D018197] (548)  Neoplasms, Connective and Soft Tissue [MESH:D018204] (4742)   Neoplasms, Connective Tissue [MESH:D009372] (3626)   Chondrosarcoma [MESH:D002813] (1217)  Mastocytosis [MESH:D008415] (792)   Mastocytosis, Systemic [MESH:D034721] (769)  Neoplasms, Muscle Tissue [MESH:D009379] (1965)   Leiomyoma [MESH:D007889] (744)  Perivascular Epithelioid Cell Neoplasms [MESH:D054973] (165)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Sarcoma [MESH:D012509] (4246)   Chondrosarcoma [MESH:D002813] (1217)  Hemangiosarcoma [MESH:D006394] (1836)  Neoplasms, Germ Cell and Embryonal [MESH:D009373] (5126)   Neuroectodermal Tumors [MESH:D017599] (5066)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  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)  Teratoma [MESH:D013724] (51)   Dermoid Cyst [MESH:D003884] (34)   Ring dermoid of cornea [MESH:C535684] (29)  Neoplasms, Glandular and Epithelial [MESH:D009375] (7760)   Adenoma [MESH:D000236] (4051)   Adenomatous Polyps [MESH:D018256] (1571)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Carcinoma [MESH:D002277] (7263)   Thyroid cancer, papillary [MESH:C536915] (111)  Carcinoma, Squamous Cell [MESH:D002294] (4294)  Adenocarcinoma [MESH:D000230] (6565)   Adenocarcinoma of lung [MESH:C538231] (1487)  Carcinoma, Adenoid Cystic [MESH:D003528] (1561)  Carcinoma, Hepatocellular [MESH:D006528] (5375)  Carcinoma, Lobular [MESH:D018275] (305)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Carcinoma, Basal Cell [MESH:D002280] (1628)   Basal Cell Nevus Syndrome [MESH:D001478] (67)  Carcinoma in Situ [MESH:D002278] (2111)   Prostatic Intraepithelial Neoplasia [MESH:D019048] (1565)  Neoplasms, Basal Cell [MESH:D018295] (1707)   Carcinoma, Basal Cell [MESH:D002280] (1628)   Basal Cell Nevus Syndrome [MESH:D001478] (67)  Neoplasms, Ductal, Lobular, and Medullary [MESH:D018299] (1831)   Carcinoma, Lobular [MESH:D018275] (305)  Carcinoma, Ductal [MESH:D044584] (1786)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  Astrocytoma [MESH:D001254] (2692)   Glioblastoma [MESH:D005909] (2554)  Neuroectodermal Tumors, Primitive [MESH:D018242] (2005)   Medulloblastoma [MESH:D008527] (1282)  Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433)   Neuroblastoma [MESH:D009447] (1420)  Neoplasms, Squamous Cell [MESH:D018307] (4457)   Carcinoma, Squamous Cell [MESH:D002294] (4294)  Neoplasms, Nerve Tissue [MESH:D009380] (5201)   Meningioma [MESH:D008579] (978)  Neuroectodermal Tumors [MESH:D017599] (5059)   Neoplasms, Neuroepithelial [MESH:D018302] (4487)   Glioma [MESH:D005910] (4261)   Medulloblastoma [MESH:D008527] (1282)  Oligodendroglioma [MESH:D009837] (241)  Astrocytoma [MESH:D001254] (2692)   Glioblastoma [MESH:D005909] (2554)  Neuroectodermal Tumors, Primitive [MESH:D018242] (2005)   Medulloblastoma [MESH:D008527] (1282)  Neuroectodermal Tumors, Primitive, Peripheral [MESH:D018241] (1433)   Neuroblastoma [MESH:D009447] (1420)  Neuroendocrine Tumors [MESH:D018358] (3625)   Melanoma [MESH:D008545] (3508)  Neoplasms, Plasma Cell [MESH:D054219] (2772)   Multiple Myeloma [MESH:D009101] (2767)  Neoplasms, Vascular Tissue [MESH:D009383] (2959)   Hemangiosarcoma [MESH:D006394] (1836)  Meningioma [MESH:D008579] (978)  Nevi and Melanomas [MESH:D018326] (3572)   Melanoma [MESH:D008545] (3508)  Neoplasms by Site [MESH:D009371] (9169)   Breast Neoplasms [MESH:D001943] (6077)  Digestive System Neoplasms [MESH:D004067] (7487)   Gastrointestinal Neoplasms [MESH:D005770] (6452)   Esophageal Neoplasms [MESH:D004938] (3737)  Stomach Neoplasms [MESH:D013274] (4942)  Intestinal Neoplasms [MESH:D007414] (5358)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Adenomatous Polyposis Coli [MESH:D011125] (1565)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, Hurthle cell [MESH:C536913] (24)  Thyroid cancer, papillary [MESH:C536915] (111)  Head and Neck Neoplasms [MESH:D006258] (4612)   Esophageal Neoplasms [MESH:D004938] (3737)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Neoplasms [MESH:D014062] (1518)  Otorhinolaryngologic Neoplasms [MESH:D010039] (1557)   Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, Hurthle cell [MESH:C536913] (24)  Thyroid cancer, papillary [MESH:C536915] (111)  Mammary Neoplasms, Animal [MESH:D015674] (3404)   Mammary Neoplasms, Experimental [MESH:D008325] (3268)  Nervous System Neoplasms [MESH:D009423] (3130)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Skin Neoplasms [MESH:D012878] (2992)   Sebaceous Gland Neoplasms [MESH:D012626] (154)  Thoracic Neoplasms [MESH:D013899] (6032)   Respiratory Tract Neoplasms [MESH:D012142] (6020)   Lung Neoplasms [MESH:D008175] (6015)   Adenocarcinoma of lung [MESH:C538231] (1487)  Bronchial Neoplasms [MESH:D001984] (3608)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Urogenital Neoplasms [MESH:D014565] (7002)   Genital Neoplasms, Female [MESH:D005833] (2540)   Uterine Neoplasms [MESH:D014594] (2431)   Endometrial Neoplasms [MESH:D016889] (1987)  Uterine Cervical Neoplasms [MESH:D002583] (978)  Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  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)  Neoplasm Metastasis [MESH:D009362] (4441)  Neoplasm Recurrence, Local [MESH:D009364] (1949)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Turcot syndrome [MESH:C536928] (159)  Adenomatous Polyposis Coli [MESH:D011125] (1565)  Basal Cell Nevus Syndrome [MESH:D001478] (67)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)  Tumor Virus Infections [MESH:D014412] (759)   Epstein-Barr Virus Infections [MESH:D020031] (693)   Burkitt Lymphoma [MESH:D002051] (691) C05. Musculoskeletal Diseases  C05. Musculoskeletal Diseases  Musculoskeletal Diseases [MESH:D009140] (8705)   Bone Diseases [MESH:D001847] (5801)   Bone Resorption [MESH:D001862] (2352)  Bone Diseases, Developmental [MESH:D001848] (3315)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Basal Cell Nevus Syndrome [MESH:D001478] (67)  Dwarfism [MESH:D004392] (778)   Kniest dysplasia [MESH:C537207] (89)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 2 [MESH:C536017] (89)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89)  Dysostoses [MESH:D004413] (1019)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Synostosis [MESH:D013580] (817)   Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Osteochondrodysplasias [MESH:D010009] (2440)   Epiphyseal dysplasia, multiple, 2 [MESH:C535502] (18)  Spondyloepiphyseal dysplasia, congenita [MESH:C535788] (89)  Spondylometaphyseal dysplasia, Kozlowski type [MESH:C535797] (118)  Kniest dysplasia [MESH:C537207] (89)  Strudwick syndrome [MESH:C537501] (89)  Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness [MESH:C565046] (89)  Osteoarthritis with Mild Chondrodysplasia [MESH:C565740] (89)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 2 [MESH:C536017] (89)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89)  Chondrodysplasia Punctata [MESH:D002806] (108)   Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 2A [MESH:C536042] (375)  Osteogenesis imperfecta, type 3 [MESH:C536044] (375)  Osteogenesis imperfecta, type 4 [MESH:C536045] (375)  Bone Diseases, Metabolic [MESH:D001851] (3492)   Osteoporosis [MESH:D010024] (3037)   Exudative vitreoretinopathy 1 [MESH:C536382] (34)  Hyperostosis [MESH:D015576] (493)   Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  Osteitis Deformans [MESH:D010001] (287)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Osteonecrosis [MESH:D010020] (539)   Femur Head Necrosis [MESH:D005271] (268)   Legg-Calve-Perthes Disease [MESH:D007873] (90)  Spinal Diseases [MESH:D013122] (2485)   Intervertebral Disc Degeneration [MESH:D055959] (827)   Intervertebral disc disease [MESH:C535531] (514)  Intervertebral Disc Displacement [MESH:D007405] (520)   Intervertebral disc disease [MESH:C535531] (514)  Jaw Diseases [MESH:D007571] (1601)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Jaw Cysts [MESH:D007570] (74)   Odontogenic Cysts [MESH:D009807] (72)   Basal Cell Nevus Syndrome [MESH:D001478] (67)  Joint Diseases [MESH:D007592] (4657)   Arthralgia [MESH:D018771] (191)  Arthritis [MESH:D001168] (4416)   Stickler syndrome, type 1 [MESH:C537492] (89)  Arthritis, Experimental [MESH:D001169] (3142)  Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)   Osteoarthritis with Mild Chondrodysplasia [MESH:C565740] (89)  Muscular Diseases [MESH:D009135] (4071)   Muscular Disorders, Atrophic [MESH:D020966] (1598)   Muscular Dystrophies [MESH:D009136] (1593)   Muscular Dystrophy, Duchenne [MESH:D020388] (942)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Myositis [MESH:D009220] (2071)   Myositis, Inclusion Body [MESH:D018979] (103)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Musculoskeletal Abnormalities [MESH:D009139] (3796)   Craniofacial Abnormalities [MESH:D019465] (3098)   Frontonasal dysplasia [MESH:C538065] (52)  Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  Loeys-Dietz Syndrome [MESH:D055947] (263)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Mowat-Wilson syndrome [MESH:C536990] (37)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Limb Deformities, Congenital [MESH:D017880] (1813)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Arachnodactyly [MESH:D054119] (126)  Lower Extremity Deformities, Congenital [MESH:D038061] (560)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Polydactyly [MESH:D017689] (318)   Holoprosencephaly 9 [MESH:C563659] (35)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89)  Synostosis [MESH:D013580] (817)   Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Rheumatic Diseases [MESH:D012216] (4032)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Osteoarthritis [MESH:D010003] (1743)   Osteoarthritis with Mild Chondrodysplasia [MESH:C565740] (89) 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)  Cholelithiasis [MESH:D002769] (373)   Gallstones [MESH:D042882] (350)  Gallbladder Diseases [MESH:D005705] (1215)   Cholecystolithiasis [MESH:D041761] (353)   Gallstones [MESH:D042882] (350)  Digestive System Abnormalities [MESH:D004065] (2127)   Hirschsprung Disease [MESH:D006627] (361)   Mowat-Wilson syndrome [MESH:C536990] (37)  Digestive System Neoplasms [MESH:D004067] (7493)   Gastrointestinal Neoplasms [MESH:D005770] (6460)   Esophageal Neoplasms [MESH:D004938] (3737)  Stomach Neoplasms [MESH:D013274] (4942)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Gastrointestinal Diseases [MESH:D005767] (7443)   Esophageal Diseases [MESH:D004935] (4255)   Esophageal Neoplasms [MESH:D004938] (3737)  Gastroenteritis [MESH:D005759] (4066)   Colitis [MESH:D003092] (3199)  Gastrointestinal Hemorrhage [MESH:D006471] (815)   Peptic Ulcer Hemorrhage [MESH:D010438] (553)  Gastrointestinal Neoplasms [MESH:D005770] (6460)   Esophageal Neoplasms [MESH:D004938] (3737)  Stomach Neoplasms [MESH:D013274] (4942)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Intestinal Diseases [MESH:D007410] (6206)   Colonic Diseases [MESH:D003108] (5564)   Colitis [MESH:D003092] (3199)  Colorectal Neoplasms [MESH:D015179] (5282)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Megacolon [MESH:D008531] (386)   Hirschsprung Disease [MESH:D006627] (361)   Mowat-Wilson syndrome [MESH:C536990] (37)  Intestinal Neoplasms [MESH:D007414] (5359)   Colorectal Neoplasms [MESH:D015179] (5294)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Rectal Neoplasms [MESH:D012004] (717)  Colonic Neoplasms [MESH:D003110] (4405)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Intestinal Polyposis [MESH:D044483] (1610)   Adenomatous Polyposis Coli [MESH:D011125] (1565)  Rectal Diseases [MESH:D012002] (4596)   Colorectal Neoplasms [MESH:D015179] (4534)   Turcot syndrome [MESH:C536928] (159)  Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Rectal Neoplasms [MESH:D012004] (717)  Stomach Diseases [MESH:D013272] (5325)   Gastroparesis [MESH:D018589] (732)  Stomach Neoplasms [MESH:D013274] (4942)  Liver Diseases [MESH:D008107] (8167)   alpha 1-Antitrypsin Deficiency [MESH:D019896] (80)  Drug-Induced Liver Injury [MESH:D056486] (4936)  Hepatitis [MESH:D006505] (3883)  Hepatolenticular Degeneration [MESH:D006527] (473)  Hepatorenal Syndrome [MESH:D006530] (910)  Fatty Liver [MESH:D005234] (3584)   Non-alcoholic Fatty Liver Disease [MESH:C541083] (1567)  Liver Cirrhosis [MESH:D008103] (5542)   Liver Cirrhosis, Experimental [MESH:D008106] (4589)  Liver Neoplasms [MESH:D008113] (6048)   Carcinoma, Hepatocellular [MESH:D006528] (5375)  Liver Neoplasms, Experimental [MESH:D008114] (2837)  Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Pancreatic Diseases [MESH:D010182] (4453)   Exocrine Pancreatic Insufficiency [MESH:D010188] (42)   Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056) C07. Stomatognathic Diseases  C07. Stomatognathic Diseases  Stomatognathic Diseases [MESH:D009057] (5348)   Jaw Diseases [MESH:D007571] (1608)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Jaw Cysts [MESH:D007570] (74)   Odontogenic Cysts [MESH:D009807] (72)   Basal Cell Nevus Syndrome [MESH:D001478] (67)  Mouth Diseases [MESH:D009059] (4783)   Oral Submucous Fibrosis [MESH:D009914] (2432)  Lip Diseases [MESH:D008047] (924)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Neoplasms [MESH:D009062] (2263)   Salivary Gland Neoplasms [MESH:D012468] (968)  Tongue Neoplasms [MESH:D014062] (1518)  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)   Nasopharyngeal Diseases [MESH:D009302] (1508)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Tooth Abnormalities [MESH:D014071] (622)   Anodontia [MESH:D000848] (185)   Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Tooth Diseases [MESH:D014076] (742)   Tooth Abnormalities [MESH:D014071] (622)   Anodontia [MESH:D000848] (185)   Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48) C08. Respiratory Tract Diseases  C08. Respiratory Tract Diseases  Respiratory Tract Diseases [MESH:D012140] (7881)   Respiratory System Abnormalities [MESH:D015619] (243)  Bronchial Diseases [MESH:D001982] (4382)   Asthma [MESH:D001249] (4098)  Bronchiectasis [MESH:D001987] (1792)  Lung Diseases [MESH:D008171] (7249)   alpha 1-Antitrypsin Deficiency [MESH:D019896] (80)  Pneumonia [MESH:D011014] (3482)  Pulmonary Embolism [MESH:D011655] (1118)  Lung Diseases, Interstitial [MESH:D017563] (2966)   Idiopathic Interstitial Pneumonias [MESH:D054988] (314)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Pneumoconiosis [MESH:D011009] (2789)   Asbestosis [MESH:D001195] (935)  Silicosis [MESH:D012829] (1273)  Lung Diseases, Obstructive [MESH:D008173] (4697)   Asthma [MESH:D001249] (3903)  Pulmonary Disease, Chronic Obstructive [MESH:D029424] (3564)   Pulmonary Emphysema [MESH:D011656] (1259)  Lung Injury [MESH:D055370] (3688)   Pneumoconiosis [MESH:D011009] (2789)   Asbestosis [MESH:D001195] (935)  Silicosis [MESH:D012829] (1273)  Lung Neoplasms [MESH:D008175] (6012)   Adenocarcinoma of lung [MESH:C538231] (1487)  Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380)  Pulmonary Fibrosis [MESH:D011658] (3140)   Idiopathic Pulmonary Fibrosis [MESH:D054990] (310)  Respiratory Distress Syndrome, Newborn [MESH:D012127] (169)   Hyaline Membrane Disease [MESH:D006819] (93)   Kniest dysplasia [MESH:C537207] (89)  Respiration Disorders [MESH:D012120] (2218)   Respiratory Distress Syndrome, Newborn [MESH:D012127] (169)   Hyaline Membrane Disease [MESH:D006819] (93)   Kniest dysplasia [MESH:C537207] (89)  Respiratory Hypersensitivity [MESH:D012130] (4401)   Asthma [MESH:D001249] (4098)  Respiratory Tract Infections [MESH:D012141] (3926)   Pneumonia [MESH:D011014] (3482)  Respiratory Tract Neoplasms [MESH:D012142] (6053)   Lung Neoplasms [MESH:D008175] (6013)   Adenocarcinoma of lung [MESH:C538231] (1487)  Bronchial Neoplasms [MESH:D001984] (3608)   Carcinoma, Bronchogenic [MESH:D002283] (3606)   Carcinoma, Non-Small-Cell Lung [MESH:D002289] (3540)  Small Cell Lung Carcinoma [MESH:D055752] (1380) C09. Otorhinolaryngologic Diseases  C09. Otorhinolaryngologic Diseases  Otorhinolaryngologic Diseases [MESH:D010038] (3827)   Ear Diseases [MESH:D004427] (2522)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Hearing Loss, Conductive [MESH:D006314] (134)   Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness [MESH:C565046] (89)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Stickler syndrome, type 1 [MESH:C537492] (89)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Otorhinolaryngologic Neoplasms [MESH:D010039] (1561)   Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Diseases [MESH:D010608] (1605)   Nasopharyngeal Diseases [MESH:D009302] (1508)   Nasopharyngeal Neoplasms [MESH:D009303] (1500)  Pharyngeal Neoplasms [MESH:D010610] (1520)   Nasopharyngeal Neoplasms [MESH:D009303] (1500) 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)   Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170)  Central Nervous System Diseases [MESH:D002493] (9745)   Brain Diseases [MESH:D001927] (9294)   Basal Ganglia Diseases [MESH:D001480] (4268)   Hepatolenticular Degeneration [MESH:D006527] (473)  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)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Peroxisomal Disorders [MESH:D018901] (1472)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Cerebellar Diseases [MESH:D002526] (736)   Cerebellar Ataxia [MESH:D002524] (542)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Spinocerebellar Ataxias [MESH:D020754] (406)   Ataxia Telangiectasia [MESH:D001260] (142)  Cerebrovascular Disorders [MESH:D002561] (5542)   Carotid Artery Diseases [MESH:D002340] (1993)   Carotid Stenosis [MESH:D016893] (174)  Intracranial Arterial Diseases [MESH:D020765] (2463)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Cerebral Amyloid Angiopathy [MESH:D016657] (470)  Intracranial Hemorrhages [MESH:D020300] (3269)   Cerebral Hemorrhage [MESH:D002543] (2873)  Dementia [MESH:D003704] (4498)   Alzheimer Disease [MESH:D000544] (4275)   Alzheimer disease type 2 [MESH:C536595] (165)  Frontotemporal Lobar Degeneration [MESH:D057174] (310)   Frontotemporal Dementia [MESH:D057180] (300)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Epilepsy [MESH:D004827] (6274)   Status Epilepticus [MESH:D013226] (4014)  Epilepsies, Partial [MESH:D004828] (1267)   Epilepsy, Temporal Lobe [MESH:D004833] (1108)  Seizures [MESH:D012640] (4502)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Hypothalamic Diseases [MESH:D007027] (1833)   Pituitary Diseases [MESH:D010900] (1808)   Hypopituitarism [MESH:D007018] (732)   Holoprosencephaly 9 [MESH:C563659] (35)  Leukoencephalopathies [MESH:D056784] (1916)   Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Movement Disorders [MESH:D009069] (4823)   Hepatolenticular Degeneration [MESH:D006527] (473)  Parkinsonian Disorders [MESH:D020734] (4009)   Parkinson Disease [MESH:D010300] (3595)  Ocular Motility Disorders [MESH:D015835] (364)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Spinal Cord Diseases [MESH:D013118] (4376)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Cranial Nerve Diseases [MESH:D003389] (2004)   Ocular Motility Disorders [MESH:D015835] (1697)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Optic Nerve Diseases [MESH:D009901] (1375)   Optic Nerve Hypoplasia, Bilateral [MESH:C563492] (43)  Demyelinating Diseases [MESH:D003711] (2917)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (2035)   Multiple Sclerosis [MESH:D009103] (1716)   Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Nervous System Malformations [MESH:D009421] (3354)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Acrocallosal Syndrome [MESH:D055673] (43)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)  Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia type 5A, recessive [MESH:C536871] (79)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Mowat-Wilson syndrome [MESH:C536990] (37)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Neural Tube Defects [MESH:D009436] (2143)   Meningomyelocele [MESH:D008591] (100)  Nervous System Neoplasms [MESH:D009423] (3073)   Central Nervous System Neoplasms [MESH:D016543] (3055)   Brain Neoplasms [MESH:D001932] (2764)   Turcot syndrome [MESH:C536928] (159)  Meningeal Neoplasms [MESH:D008577] (984)   Meningioma [MESH:D008579] (978)  Neurocutaneous Syndromes [MESH:D020752] (1230)   Ataxia Telangiectasia [MESH:D001260] (142)  Neurodegenerative Diseases [MESH:D019636] (6613)   Parkinson Disease [MESH:D010300] (3595)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3243)   Hepatolenticular Degeneration [MESH:D006527] (473)  Rett Syndrome [MESH:D015518] (143)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)  Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia type 5A, recessive [MESH:C536871] (79)  Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Tauopathies [MESH:D024801] (4289)   Alzheimer Disease [MESH:D000544] (4275)   Alzheimer disease type 2 [MESH:C536595] (165)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Neurologic Manifestations [MESH:D009461] (8964)   Dyskinesias [MESH:D020820] (3365)   Catalepsy [MESH:D002375] (1429)  Ataxia [MESH:D001259] (1138)   Cerebellar Ataxia [MESH:D002524] (542)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Spinocerebellar Ataxias [MESH:D020754] (406)   Ataxia Telangiectasia [MESH:D001260] (142)  Neurobehavioral Manifestations [MESH:D019954] (5230)   Communication Disorders [MESH:D003147] (2918)   Learning Disorders [MESH:D007859] (2727)  Language Disorders [MESH:D007806] (653)   Speech Disorders [MESH:D013064] (482)   Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Intellectual Disability [MESH:D008607] (3054)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Mowat-Wilson syndrome [MESH:C536990] (37)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Cri-du-Chat Syndrome [MESH:D003410] (139)  Mental Retardation, X-Linked [MESH:D038901] (1854)   Adrenoleukodystrophy [MESH:D000326] (1348)  Rett Syndrome [MESH:D015518] (143)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Psychomotor Disorders [MESH:D011596] (576)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Pupil Disorders [MESH:D011681] (194)   Ectopia pupillae [MESH:C536185] (43)  Seizures [MESH:D012640] (4514)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Sensation Disorders [MESH:D012678] (5011)   Hearing Disorders [MESH:D006311] (2103)   Hearing Loss [MESH:D034381] (2068)   Hearing Loss, Conductive [MESH:D006314] (134)   Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness [MESH:C565046] (89)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Stickler syndrome, type 1 [MESH:C537492] (89)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Vision Disorders [MESH:D014786] (501)   Color Vision Defects [MESH:D003117] (72)  Neuromuscular Diseases [MESH:D009468] (7336)   Motor Neuron Disease [MESH:D016472] (3670)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Muscular Diseases [MESH:D009135] (3538)   Muscular Disorders, Atrophic [MESH:D020966] (1594)   Muscular Dystrophies [MESH:D009136] (1589)   Muscular Dystrophy, Duchenne [MESH:D020388] (942)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Myositis [MESH:D009220] (2069)   Myositis, Inclusion Body [MESH:D018979] (103)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Peripheral Nervous System Diseases [MESH:D010523] (6151)   Diabetic Neuropathies [MESH:D003929] (2442)  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 4E [MESH:C535301] (121)  Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia type 5A, recessive [MESH:C536871] (79)  Neurotoxicity Syndromes [MESH:D020258] (4570)   Heavy Metal Poisoning, Nervous System [MESH:D020260] (2912)   Arsenic Poisoning [MESH:D020261] (2540) C11. Eye Diseases  C11. Eye Diseases  Eye Diseases [MESH:D005128] (6245)   Lacrimal Apparatus Diseases [MESH:D007766] (644)  Conjunctival Diseases [MESH:D003229] (273)   Ring dermoid of cornea [MESH:C535684] (29)  Corneal Diseases [MESH:D003316] (1445)   Ring dermoid of cornea [MESH:C535684] (29)  Corneal Opacity [MESH:D003318] (544)   Peters anomaly [MESH:C537884] (465)  Keratitis [MESH:D007634] (168)   Keratitis, hereditary [MESH:C537022] (43)  Corneal Ulcer [MESH:D003320] (61)  Eye Abnormalities [MESH:D005124] (1233)   Peters anomaly [MESH:C537884] (465)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Aniridia [MESH:D015783] (312)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Aniridia, type 2 [MESH:C536372] (43)  Coloboma [MESH:D003103] (315)   Coloboma of optic nerve [MESH:C535970] (43)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, Syndromic 5 [MESH:C566441] (20)  Eye Diseases, Hereditary [MESH:D015785] (1869)   Stickler Syndrome, Type I, Nonsyndromic Ocular [MESH:C563709] (89)  Albinism [MESH:D000417] (258)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Aniridia [MESH:D015783] (312)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Aniridia, type 2 [MESH:C536372] (43)  Leber Congenital Amaurosis [MESH:D057130] (157)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Leber Congenital Amaurosis 13 [MESH:C567197] (20)  Retinitis Pigmentosa [MESH:D012174] (414)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Eye Infections [MESH:D015817] (110)   Corneal Ulcer [MESH:D003320] (61)  Lens Diseases [MESH:D007905] (900)   Cataract [MESH:D002386] (860)   Cataract, Autosomal Dominant [MESH:C565815] (58)  Ocular Hypertension [MESH:D009798] (1630)   Glaucoma [MESH:D005901] (1458)   Glaucoma, Open-Angle [MESH:D005902] (1281)   Glaucoma, Primary Open Angle [MESH:C562750] (466)  Glaucoma 1, Open Angle, G [MESH:C563692] (20)  Ocular Motility Disorders [MESH:D015835] (1699)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Optic Nerve Diseases [MESH:D009901] (1377)   Optic Nerve Hypoplasia, Bilateral [MESH:C563492] (43)  Pupil Disorders [MESH:D011681] (230)   Ectopia pupillae [MESH:C536185] (43)  Refractive Errors [MESH:D012030] (457)   Myopia [MESH:D009216] (349)   Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness [MESH:C565046] (89)  Retinal Diseases [MESH:D012164] (3747)   Diabetic Retinopathy [MESH:D003930] (1371)  Retinopathy of Prematurity [MESH:D012178] (353)  Leber Congenital Amaurosis [MESH:D057130] (157)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Leber Congenital Amaurosis 13 [MESH:C567197] (20)  Retinal Degeneration [MESH:D012162] (2386)   Hyaloideoretinal degeneration of Wagner [MESH:C536075] (135)  Macular Degeneration [MESH:D008268] (995)   Macular Degeneration, Age-Related, 1 [MESH:C566411] (276)  Retinal Dystrophies [MESH:D058499] (1315)   Retinitis Pigmentosa [MESH:D012174] (1307)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Retinal Detachment [MESH:D012163] (1639)   Stickler syndrome, type 1 [MESH:C537492] (89)  Vitreoretinopathy, Proliferative [MESH:D018630] (58)   Exudative vitreoretinopathy 1 [MESH:C536382] (34)  Uveal Diseases [MESH:D014603] (2428)   Uveitis [MESH:D014605] (2157)  Iris Diseases [MESH:D007499] (348)   Aniridia [MESH:D015783] (312)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Aniridia, type 2 [MESH:C536372] (43)  Vision Disorders [MESH:D014786] (534)   Color Vision Defects [MESH:D003117] (72)  Vitreoretinopathy, Proliferative [MESH:D018630] (58)   Exudative vitreoretinopathy 1 [MESH:C536382] (34) 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)  Infertility [MESH:D007246] (2909)   Infertility, Male [MESH:D007248] (2851)   Aromatase deficiency [MESH:C537436] (277)  Prostatic Diseases [MESH:D011469] (6204)   Prostatic Neoplasms [MESH:D011471] (6135)  Testicular Diseases [MESH:D013733] (451)   Cryptorchidism [MESH:D003456] (215)   Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Urogenital Abnormalities [MESH:D014564] (2065)   Allanson Pantzar McLeod syndrome [MESH:C537048] (503)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  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)   Aromatase deficiency [MESH:C537436] (277)  46, XY Disorders of Sex Development [MESH:D058490] (1060)   Kallmann Syndrome [MESH:D017436] (147)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Urogenital Neoplasms [MESH:D014565] (6932)   Genital Neoplasms, Male [MESH:D005834] (6224)   Prostatic Neoplasms [MESH:D011471] (6135)  Urologic Neoplasms [MESH:D014571] (5315)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urologic Diseases [MESH:D014570] (7792)   Kidney Diseases [MESH:D007674] (7242)   Lipoprotein Glomerulopathy [MESH:C567089] (165)  Anuria [MESH:D001002] (833)  Diabetic Nephropathies [MESH:D003928] (2301)  Hepatorenal Syndrome [MESH:D006530] (910)  Hypertension, Renal [MESH:D006977] (698)  Nephrosis [MESH:D009401] (2228)  Uremia [MESH:D014511] (2898)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulonephritis, IGA [MESH:D005922] (897)  Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Renal Insufficiency [MESH:D051437] (4951)   Acute Kidney Injury [MESH:D058186] (4142)  Renal Insufficiency, Chronic [MESH:D051436] (2931)   Kidney Failure, Chronic [MESH:D007676] (2930)  Ureteral Diseases [MESH:D014515] (1024)   Ureteral Obstruction [MESH:D014517] (575)  Urinary Bladder Diseases [MESH:D001745] (4374)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Anuria [MESH:D001002] (833)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394) C13. Female Urogenital Diseases and Pregnancy Complications  C13. Female Urogenital Diseases and Pregnancy Complications  Z. Exceptions (1116)   Not Fully Specified [NFS] (1116)  Female Urogenital Diseases [MESH:D052776] (8724)   Genital Diseases, Female [MESH:D005831] (5563)   Endometriosis [MESH:D004715] (2461)  Adnexal Diseases [MESH:D000291] (4273)   Ovarian Diseases [MESH:D010049] (4255)   Ovarian 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)   Allanson Pantzar McLeod syndrome [MESH:C537048] (503)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  46, XY Disorders of Sex Development [MESH:D058490] (1060)   Kallmann Syndrome [MESH:D017436] (147)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  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)  Urologic Diseases [MESH:D014570] (7793)   Kidney Diseases [MESH:D007674] (7242)   Lipoprotein Glomerulopathy [MESH:C567089] (165)  Anuria [MESH:D001002] (833)  Diabetic Nephropathies [MESH:D003928] (2301)  Hepatorenal Syndrome [MESH:D006530] (910)  Hypertension, Renal [MESH:D006977] (698)  Nephrosis [MESH:D009401] (2228)  Uremia [MESH:D014511] (2898)  Nephritis [MESH:D009393] (4236)   Glomerulonephritis [MESH:D005921] (3758)   Glomerulonephritis, IGA [MESH:D005922] (897)  Glomerulosclerosis, Focal Segmental [MESH:D005923] (1754)  Renal Insufficiency [MESH:D051437] (4951)   Acute Kidney Injury [MESH:D058186] (4142)  Renal Insufficiency, Chronic [MESH:D051436] (2931)   Kidney Failure, Chronic [MESH:D007676] (2930)  Ureteral Diseases [MESH:D014515] (1024)   Ureteral Obstruction [MESH:D014517] (575)  Urinary Bladder Diseases [MESH:D001745] (4375)   Urinary Bladder Neoplasms [MESH:D001749] (4079)  Urination Disorders [MESH:D014555] (3598)   Anuria [MESH:D001002] (833)  Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394)  Pregnancy Complications [MESH:D011248] (4768)   Abortion, Spontaneous [MESH:D000022] (2780)  Diabetes, Gestational [MESH:D016640] (1157)  Fetal Diseases [MESH:D005315] (1206)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Hypertension, Pregnancy-Induced [MESH:D046110] (1453)   Pre-Eclampsia [MESH:D011225] (1435)  Prenatal Injuries [MESH:D049188] (1314)   Prenatal Exposure Delayed Effects [MESH:D011297] (870) 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)   Heterotaxy Syndrome [MESH:D059446] (84)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Vascular Malformations [MESH:D054079] (1098)   Arteriovenous Malformations [MESH:D001165] (1058)   Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62)  Heart Diseases [MESH:D006331] (8614)   Ventricular Dysfunction [MESH:D018754] (2348)  Arrhythmias, Cardiac [MESH:D001145] (4679)   Bradycardia [MESH:D001919] (1899)  Cardiomegaly [MESH:D006332] (4081)   Cardiomyopathy, Dilated [MESH:D002311] (1576)  Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Cardiomyopathies [MESH:D009202] (5331)   Cardiomyopathy, Alcoholic [MESH:D002310] (354)  Cardiomyopathy, Dilated [MESH:D002311] (1576)  Cardiomyopathy, Hypertrophic [MESH:D002312] (1516)  Diabetic Cardiomyopathies [MESH:D058065] (1995)  Endomyocardial Fibrosis [MESH:D004719] (521)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Heart Defects, Congenital [MESH:D006330] (2443)   Heterotaxy Syndrome [MESH:D059446] (84)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Heart Failure [MESH:D006333] (4058)   Edema, Cardiac [MESH:D004489] (27)  Heart Valve Diseases [MESH:D006349] (3333)   Aortic Valve Insufficiency [MESH:D001022] (1002)  Aortic Valve Stenosis [MESH:D001024] (1742)   Aortic Stenosis, Subvalvular [MESH:D001020] (1455)   Cardiomyopathy, Hypertrophic [MESH:D002312] (1451)  Myocardial Ischemia [MESH:D017202] (5787)   Myocardial Infarction [MESH:D009203] (4122)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Vascular Diseases [MESH:D014652] (8691)   Hyperemia [MESH:D006940] (2372)  Hypotension [MESH:D007022] (4045)  Vascular System Injuries [MESH:D057772] (2086)  Vasculitis [MESH:D014657] (2604)  Aneurysm [MESH:D000783] (1886)   Aneurysm, Dissecting [MESH:D000784] (699)   Loeys-Dietz Syndrome [MESH:D055947] (263)  Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Abdominal [MESH:D017544] (1519)  Aortic Aneurysm, Thoracic [MESH:D017545] (781)  Loeys-Dietz Syndrome [MESH:D055947] (263)  Aortic Diseases [MESH:D001018] (1737)   Aortic Aneurysm [MESH:D001014] (1721)   Aortic Aneurysm, Abdominal [MESH:D017544] (1519)  Aortic Aneurysm, Thoracic [MESH:D017545] (781)  Loeys-Dietz Syndrome [MESH:D055947] (263)  Arterial Occlusive Diseases [MESH:D001157] (4520)   Carotid Stenosis [MESH:D016893] (174)  Arteriosclerosis [MESH:D001161] (4466)   Atherosclerosis [MESH:D050197] (4188)  Coronary Artery Disease [MESH:D003324] (2685)  Arteriovenous Malformations [MESH:D001165] (1058)   Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62)  Cerebrovascular Disorders [MESH:D002561] (5541)   Carotid Artery Diseases [MESH:D002340] (1993)   Carotid Stenosis [MESH:D016893] (174)  Intracranial Arterial Diseases [MESH:D020765] (2468)   Cerebral Arterial Diseases [MESH:D002539] (2440)   Cerebral Amyloid Angiopathy [MESH:D016657] (470)  Intracranial Hemorrhages [MESH:D020300] (3269)   Cerebral Hemorrhage [MESH:D002543] (2873)  Diabetic Angiopathies [MESH:D003925] (1984)   Diabetic Retinopathy [MESH:D003930] (1371)  Embolism and Thrombosis [MESH:D016769] (3374)   Embolism [MESH:D004617] (1137)   Pulmonary Embolism [MESH:D011655] (1118)  Thromboembolism [MESH:D013923] (732)   Venous Thromboembolism [MESH:D054556] (400)  Thrombosis [MESH:D013927] (3101)   Thromboembolism [MESH:D013923] (732)   Venous Thromboembolism [MESH:D054556] (400)  Hemostatic Disorders [MESH:D020141] (2894)   Multiple Myeloma [MESH:D009101] (2765)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Hypertension [MESH:D006973] (5655)   Hypertension, Essential [MESH:C562386] (1308)  Hypertension, Malignant [MESH:D006974] (621)  Hypertension, Renal [MESH:D006977] (698)  Myocardial Ischemia [MESH:D017202] (5791)   Myocardial Infarction [MESH:D009203] (4151)  Myocardial Reperfusion Injury [MESH:D015428] (3500)  Coronary Disease [MESH:D003327] (3439)   Coronary Artery Disease [MESH:D003324] (2685)  Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Telangiectasis [MESH:D013684] (255)   Ataxia Telangiectasia [MESH:D001260] (142) C15. Hemic and Lymphatic Diseases  C15. Hemic and Lymphatic Diseases  Hematologic Diseases [MESH:D006402] (6174)   Thrombophilia [MESH:D019851] (592)  Anemia [MESH:D000740] (3966)   Anemia, Aplastic [MESH:D000741] (1925)  Anemia, Hemolytic [MESH:D000743] (3083)   Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)   Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  Anemia, Hypochromic [MESH:D000747] (616)   Anemia, hypochromic microcytic [MESH:C536357] (164)  Blood Coagulation Disorders [MESH:D001778] (1828)   Blood Coagulation Disorders, Inherited [MESH:D025861] (720)   Afibrinogenemia [MESH:D000347] (284)   Afibrinogenemia congenital [MESH:C531603] (280)  Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Coagulation Protein Disorders [MESH:D020147] (580)   Afibrinogenemia [MESH:D000347] (284)   Afibrinogenemia congenital [MESH:C531603] (280)  Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Blood Platelet Disorders [MESH:D001791] (3174)   Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Blood Protein Disorders [MESH:D001796] (3051)   Hypergammaglobulinemia [MESH:D006942] (137)   Mevalonate Kinase Deficiency [MESH:D054078] (38)  Paraproteinemias [MESH:D010265] (2781)   Multiple Myeloma [MESH:D009101] (2765)  Bone Marrow Diseases [MESH:D001855] (2944)   Anemia, Aplastic [MESH:D000741] (1925)  Myelodysplastic Syndromes [MESH:D009190] (2093)  Myeloproliferative Disorders [MESH:D009196] (1492)   Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)  Leukemia, Myelogenous, Chronic, BCR-ABL Positive [MESH:D015464] (1032)  Hemorrhagic Disorders [MESH:D006474] (3359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Afibrinogenemia [MESH:D000347] (284)   Afibrinogenemia congenital [MESH:C531603] (280)  Hemostatic Disorders [MESH:D020141] (2932)   Multiple Myeloma [MESH:D009101] (2765)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Platelet Storage Pool Deficiency [MESH:D010981] (84)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Leukocyte Disorders [MESH:D007960] (2662)   Eosinophilia [MESH:D004802] (537)   Myeloproliferative Disorder, Chronic, with Eosinophilia [MESH:C565054] (134)  Lymphatic Diseases [MESH:D008206] (5167)   Histiocytosis [MESH:D015614] (336)   Histiocytosis, Non-Langerhans-Cell [MESH:D015616] (315)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  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, 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)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Splenic Diseases [MESH:D013158] (1323)   Heterotaxy Syndrome [MESH:D059446] (84) C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  C16. Congenital, Hereditary, and Neonatal Diseases and Abnormalities  Congenital, Hereditary, and Neonatal Diseases and Abnormalities [MESH:D009358] (12152)   Congenital Abnormalities [MESH:D000013] (8109)   Abnormalities, Drug-Induced [MESH:D000014] (1024)  Respiratory System Abnormalities [MESH:D015619] (244)  Abnormalities, Multiple [MESH:D000015] (3192)   Van der Woude syndrome [MESH:C536528] (33)  Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Basal Cell Nevus Syndrome [MESH:D001478] (67)  Cri-du-Chat Syndrome [MESH:D003410] (139)  Heterotaxy Syndrome [MESH:D059446] (84)  Loeys-Dietz Syndrome [MESH:D055947] (263)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Ectodermal Dysplasia [MESH:D004476] (938)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Cardiovascular Abnormalities [MESH:D018376] (3294)   Heart Defects, Congenital [MESH:D006330] (2611)   Heterotaxy Syndrome [MESH:D059446] (84)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Vascular Malformations [MESH:D054079] (1108)   Arteriovenous Malformations [MESH:D001165] (1058)   Venous Malformations, Multiple Cutaneous and Mucosal [MESH:C563977] (62)  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 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Digestive System Abnormalities [MESH:D004065] (507)   Hirschsprung Disease [MESH:D006627] (361)   Mowat-Wilson syndrome [MESH:C536990] (37)  Eye Abnormalities [MESH:D005124] (1233)   Peters anomaly [MESH:C537884] (465)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Aniridia [MESH:D015783] (312)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Aniridia, type 2 [MESH:C536372] (43)  Coloboma [MESH:D003103] (315)   Coloboma of optic nerve [MESH:C535970] (43)  Microphthalmos [MESH:D008850] (273)   Microphthalmia, Syndromic 5 [MESH:C566441] (20)  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)   Frontonasal dysplasia [MESH:C538065] (52)  Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  22q11 Deletion Syndrome [MESH:D058165] (237)   DiGeorge Syndrome [MESH:D004062] (236)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Maxillofacial Abnormalities [MESH:D019767] (1448)   Jaw Abnormalities [MESH:D007569] (1435)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Mowat-Wilson syndrome [MESH:C536990] (37)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Limb Deformities, Congenital [MESH:D017880] (1813)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Arachnodactyly [MESH:D054119] (126)  Lower Extremity Deformities, Congenital [MESH:D038061] (81)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Polydactyly [MESH:D017689] (318)   Holoprosencephaly 9 [MESH:C563659] (35)  Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89)  Synostosis [MESH:D013580] (817)   Syndactyly [MESH:D013576] (487)   Popliteal Pterygium Syndrome [MESH:C562509] (33)  Nervous System Malformations [MESH:D009421] (3354)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Agenesis of Corpus Callosum [MESH:D061085] (345)   Acrocallosal Syndrome [MESH:D055673] (43)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)  Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia type 5A, recessive [MESH:C536871] (79)  Holoprosencephaly [MESH:D016142] (218)   Holoprosencephaly 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Malformations of Cortical Development [MESH:D054220] (1406)   Microcephaly [MESH:D008831] (700)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Mowat-Wilson syndrome [MESH:C536990] (37)  Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Neural Tube Defects [MESH:D009436] (2143)   Meningomyelocele [MESH:D008591] (100)  Skin Abnormalities [MESH:D012868] (1723)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Ectodermal Dysplasia [MESH:D004476] (958)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Stomatognathic System Abnormalities [MESH:D018640] (1705)   Maxillofacial Abnormalities [MESH:D019767] (1447)   Jaw Abnormalities [MESH:D007569] (1438)   Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Mouth Abnormalities [MESH:D009056] (1383)   Cleft Lip [MESH:D002971] (914)   Van der Woude syndrome [MESH:C536528] (33)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Cleft Palate [MESH:D002972] (1330)   Van der Woude syndrome [MESH:C536528] (33)  Kniest dysplasia [MESH:C537207] (89)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  Tooth Abnormalities [MESH:D014071] (622)   Anodontia [MESH:D000848] (185)   Oligodontia-Colorectal Cancer Syndrome [MESH:C563898] (48)  Urogenital Abnormalities [MESH:D014564] (2064)   Allanson Pantzar McLeod syndrome [MESH:C537048] (503)  Popliteal Pterygium Syndrome [MESH:C562509] (33)  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)   Aromatase deficiency [MESH:C537436] (277)  46, XY Disorders of Sex Development [MESH:D058490] (1060)   Kallmann Syndrome [MESH:D017436] (147)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Fetal Diseases [MESH:D005315] (1205)   Fetal Growth Retardation [MESH:D005317] (986)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Genetic Diseases, Inborn [MESH:D030342] (9766)   alpha 1-Antitrypsin Deficiency [MESH:D019896] (80)  Ataxia Telangiectasia [MESH:D001260] (142)  Kallmann Syndrome [MESH:D017436] (147)  Loeys-Dietz Syndrome [MESH:D055947] (263)  Anemia, Hemolytic, Congenital [MESH:D000745] (2001)   Anemia, Dyserythropoietic, Congenital [MESH:D000742] (81)   Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis [MESH:C567195] (19)  Blood Coagulation Disorders, Inherited [MESH:D025861] (722)   Afibrinogenemia [MESH:D000347] (284)   Afibrinogenemia congenital [MESH:C531603] (280)  Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  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 9 [MESH:C563659] (35)  Holoprosencephaly 4 [MESH:C564180] (70)  Dwarfism [MESH:D004392] (783)   Kniest dysplasia [MESH:C537207] (89)  Achondroplasia [MESH:D000130] (196)   Achondrogenesis type 2 [MESH:C536017] (89)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89)  Eye Diseases, Hereditary [MESH:D015785] (1867)   Stickler Syndrome, Type I, Nonsyndromic Ocular [MESH:C563709] (89)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Aniridia [MESH:D015783] (312)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Aniridia, type 2 [MESH:C536372] (43)  Retinitis Pigmentosa [MESH:D012174] (442)   Leber Congenital Amaurosis 3 [MESH:C565814] (38)  Genetic Diseases, X-Linked [MESH:D040181] (3028)   Chondrodysplasia punctata 2, X-linked dominant [MESH:C538416] (61)  Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Focal Dermal Hypoplasia [MESH:D005489] (22)  Muscular Dystrophy, Duchenne [MESH:D020388] (942)  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)   Adrenoleukodystrophy [MESH:D000326] (1348)  Rett Syndrome [MESH:D015518] (143)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Hereditary Autoinflammatory Diseases [MESH:D056660] (272)   Mevalonate Kinase Deficiency [MESH:D054078] (38)  Heredodegenerative Disorders, Nervous System [MESH:D020271] (3465)   Hepatolenticular Degeneration [MESH:D006527] (473)  Rett Syndrome [MESH:D015518] (143)  Hereditary Sensory and Motor Neuropathy [MESH:D015417] (899)   Charcot-Marie-Tooth Disease [MESH:D002607] (627)   Charcot-Marie-Tooth disease, Type 4E [MESH:C535301] (121)  Charcot-Marie-Tooth disease, Type 1D [MESH:C537985] (108)  Spastic Paraplegia, Hereditary [MESH:D015419] (449)   Spastic paraplegia type 5A, recessive [MESH:C536871] (79)  Mental Retardation, X-Linked [MESH:D038901] (1848)   Adrenoleukodystrophy [MESH:D000326] (1348)  Rett Syndrome [MESH:D015518] (143)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Metabolism, Inborn Errors [MESH:D008661] (6032)   Aromatase deficiency [MESH:C537436] (277)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2565)   Methylmalonic acidemia [MESH:C537358] (764)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis, familial visceral [MESH:C538249] (285)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Peroxisomal Disorders [MESH:D018901] (1472)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease IXC [MESH:C567809] (27)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hyperlipoproteinemia Type III [MESH:D006952] (181)  Hypolipoproteinemias [MESH:D007009] (365)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipidoses [MESH:D008064] (1655)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hepatolenticular Degeneration [MESH:D006527] (473)  Peroxisomal Disorders [MESH:D018901] (1788)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Porphyrias [MESH:D011164] (917)   Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Lathosterolosis [MESH:C537880] (66)  Muscular Dystrophies [MESH:D009136] (1597)   Muscular Dystrophy, Duchenne [MESH:D020388] (942)  Muscular Dystrophies, Limb-Girdle [MESH:D049288] (259)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Neoplastic Syndromes, Hereditary [MESH:D009386] (2578)   Turcot syndrome [MESH:C536928] (159)  Adenomatous Polyposis Coli [MESH:D011125] (1565)  Basal Cell Nevus Syndrome [MESH:D001478] (67)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (260)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 2A [MESH:C536042] (375)  Osteogenesis imperfecta, type 3 [MESH:C536044] (375)  Osteogenesis imperfecta, type 4 [MESH:C536045] (375)  Skin Diseases, Genetic [MESH:D012873] (3456)   Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Ectodermal Dysplasia [MESH:D004476] (958)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Porokeratosis [MESH:D017499] (59)   Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)  Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Infant, Newborn, Diseases [MESH:D007232] (3064)   Ichthyosis [MESH:D007057] (476)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Infant, Premature, Diseases [MESH:D007235] (1292)   Retinopathy of Prematurity [MESH:D012178] (353)  Respiratory Distress Syndrome, Newborn [MESH:D012127] (169)   Hyaline Membrane Disease [MESH:D006819] (93)   Kniest dysplasia [MESH:C537207] (89)  Thanatophoric Dysplasia [MESH:D013796] (147)   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type [MESH:C563627] (89) C17. Skin and Connective Tissue Diseases  C17. Skin and Connective Tissue Diseases  Connective Tissue Diseases [MESH:D003240] (4490)   Stickler syndrome, type 1 [MESH:C537492] (89)  Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Collagen Diseases [MESH:D003095] (1267)   Kniest dysplasia [MESH:C537207] (89)  Keloid [MESH:D007627] (1111)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Osteogenesis Imperfecta [MESH:D010013] (481)   Osteogenesis imperfecta, type 2A [MESH:C536042] (375)  Osteogenesis imperfecta, type 3 [MESH:C536044] (375)  Osteogenesis imperfecta, type 4 [MESH:C536045] (375)  Panniculitis [MESH:D015434] (91)   Panniculitis, Nodular Nonsuppurative [MESH:D010201] (78)  Rheumatic Diseases [MESH:D012216] (3619)   Arthritis, Rheumatoid [MESH:D001172] (3603)  Skin Diseases [MESH:D012871] (8774)   Exanthema [MESH:D005076] (301)  Breast Diseases [MESH:D001941] (6148)   Breast Neoplasms [MESH:D001943] (6077)  Gynecomastia [MESH:D006177] (484)   Aromatase deficiency [MESH:C537436] (277)  Dermatitis [MESH:D003872] (4530)   Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Hair Diseases [MESH:D006201] (1891)   Hypotrichosis [MESH:D007039] (1513)   Hypotrichosis simplex [MESH:C537160] (92)  Keratosis [MESH:D007642] (1941)   Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Porokeratosis [MESH:D017499] (59)   Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)  Panniculitis [MESH:D015434] (88)   Panniculitis, Nodular Nonsuppurative [MESH:D010201] (78)  Pigmentation Disorders [MESH:D010859] (1215)   Hypopigmentation [MESH:D017496] (718)   Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Sebaceous Gland Diseases [MESH:D012625] (245)   Sebaceous Gland Neoplasms [MESH:D012626] (154)  Skin Abnormalities [MESH:D012868] (1709)   Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Ectodermal Dysplasia [MESH:D004476] (958)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Ichthyosis [MESH:D007057] (481)   Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Skin Diseases, Eczematous [MESH:D017443] (3740)   Dermatitis, Contact [MESH:D003877] (3394)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Skin Diseases, Genetic [MESH:D012873] (3481)   Albinism [MESH:D000417] (359)   Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Dyskeratosis Congenita [MESH:D019871] (185)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Dyskeratosis Congenita, Autosomal Dominant [MESH:C565079] (130)  Ectodermal Dysplasia [MESH:D004476] (958)   Focal Dermal Hypoplasia [MESH:D005489] (22)  Ehlers-Danlos Syndrome [MESH:D004535] (491)   Ehlers-Danlos syndrome, cardiac valvular form [MESH:C536200] (152)  Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant [MESH:C562625] (375)  Ichthyosiform Erythroderma, Congenital [MESH:D016113] (238)   Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [MESH:C562515] (45)  Porokeratosis [MESH:D017499] (59)   Porokeratosis, disseminated superficial actinic 1 [MESH:C536339] (52)  Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Skin Diseases, Infectious [MESH:D012874] (2684)   Skin Diseases, Parasitic [MESH:D012876] (2526)   Leishmaniasis [MESH:D007896] (2516)  Skin Diseases, Metabolic [MESH:D012875] (1574)   Porphyrias [MESH:D011164] (917)   Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Skin Diseases, Papulosquamous [MESH:D017444] (3392)   Psoriasis [MESH:D011565] (3278)  Skin Neoplasms [MESH:D012878] (2991)   Sebaceous Gland Neoplasms [MESH:D012626] (154) C18. Nutritional and Metabolic Diseases  C18. Nutritional and Metabolic Diseases  Metabolic Diseases [MESH:D008659] (9025)   Iron Metabolism Disorders [MESH:D019189] (2139)  Acid-Base Imbalance [MESH:D000137] (854)   Alkalosis [MESH:D000471] (384)  Brain Diseases, Metabolic [MESH:D001928] (3350)   Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Peroxisomal Disorders [MESH:D018901] (1472)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Calcium Metabolism Disorders [MESH:D002128] (3634)   Calcinosis [MESH:D002114] (2989)  DNA Repair-Deficiency Disorders [MESH:D049914] (2245)   Ataxia Telangiectasia [MESH:D001260] (142)  Colorectal Neoplasms, Hereditary Nonpolyposis [MESH:D003123] (258)  Glucose Metabolism Disorders [MESH:D044882] (6122)   Hypoglycemia [MESH:D007003] (2420)  Diabetes Mellitus [MESH:D003920] (5891)   Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes, Gestational [MESH:D016640] (1152)  Hyperinsulinism [MESH:D006946] (3586)   Insulin Resistance [MESH:D007333] (3511)  Lipid Metabolism Disorders [MESH:D052439] (3225)   Lipid Metabolism, Inborn Errors [MESH:D008052] (461)  Dyslipidemias [MESH:D050171] (2428)   Hyperlipidemias [MESH:D006949] (1908)   Hypercholesterolemia [MESH:D006937] (1404)  Hypertriglyceridemia [MESH:D015228] (808)  Hyperlipoproteinemias [MESH:D006951] (903)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hyperlipoproteinemia Type III [MESH:D006952] (181)  Hypolipoproteinemias [MESH:D007009] (409)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipidoses [MESH:D008064] (1655)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Metabolism, Inborn Errors [MESH:D008661] (6028)   Aromatase deficiency [MESH:C537436] (277)  Amino Acid Metabolism, Inborn Errors [MESH:D000592] (2559)   Methylmalonic acidemia [MESH:C537358] (764)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Albinism [MESH:D000417] (359)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Albinism, Oculocutaneous [MESH:D016115] (234)   Hermanski-Pudlak Syndrome [MESH:D022861] (82)   Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells [MESH:C538539] (74)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis, familial visceral [MESH:C538249] (285)  Brain Diseases, Metabolic, Inborn [MESH:D020739] (2634)   Hepatolenticular Degeneration [MESH:D006527] (473)  Hereditary Central Nervous System Demyelinating Diseases [MESH:D020279] (1497)   Adrenoleukodystrophy [MESH:D000326] (1348)  Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Peroxisomal Disorders [MESH:D018901] (1472)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Urea Cycle Disorders, Inborn [MESH:D056806] (315)   Hyperargininemia [MESH:D020162] (109)  Carbohydrate Metabolism, Inborn Errors [MESH:D002239] (1100)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Glycogen Storage Disease [MESH:D006008] (530)   Glycogen Storage Disease IXC [MESH:C567809] (27)  Pyruvate Metabolism, Inborn Errors [MESH:D015323] (324)   Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Lipid Metabolism, Inborn Errors [MESH:D008052] (2071)   Hyperlipoproteinemia Type II [MESH:D006938] (707)  Hyperlipoproteinemia Type III [MESH:D006952] (181)  Hypolipoproteinemias [MESH:D007009] (365)   Hypoalphalipoproteinemias [MESH:D052456] (323)   Familial HDL deficiency [MESH:C538394] (170)  Tangier Disease [MESH:D013631] (170)  Lipidoses [MESH:D008064] (1655)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Lysosomal Storage Diseases [MESH:D016464] (761)   Lysosomal Storage Diseases, Nervous System [MESH:D020140] (636)   Sphingolipidoses [MESH:D013106] (582)   Sea-Blue Histiocyte Syndrome [MESH:D012618] (165)  Metal Metabolism, Inborn Errors [MESH:D008664] (2017)   Hepatolenticular Degeneration [MESH:D006527] (473)  Peroxisomal Disorders [MESH:D018901] (1788)   Adrenoleukodystrophy [MESH:D000326] (1348)  Mevalonate Kinase Deficiency [MESH:D054078] (38)  Porphyrias [MESH:D011164] (917)   Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Steroid Metabolism, Inborn Errors [MESH:D043202] (962)   Lathosterolosis [MESH:C537880] (66)  Mitochondrial Diseases [MESH:D028361] (2561)   Pyruvate Dehydrogenase Complex Deficiency Disease [MESH:D015325] (149)   Phosphoenolpyruvate carboxykinase 2 deficiency [MESH:C536655] (67)  Porphyrias [MESH:D011164] (917)   Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  Proteostasis Deficiencies [MESH:D057165] (3522)   Amyloidosis [MESH:D000686] (791)   Cerebral Amyloid Angiopathy [MESH:D016657] (470)  Amyloidosis, Familial [MESH:D028226] (696)   Amyloidosis, familial visceral [MESH:C538249] (285)  TDP-43 Proteinopathies [MESH:D057177] (3337)   Amyotrophic Lateral Sclerosis [MESH:D000690] (3296)   Amyotrophic lateral sclerosis 1 [MESH:C531617] (2559)  Frontotemporal Lobar Degeneration [MESH:D057174] (308)   Frontotemporal Dementia [MESH:D057180] (298)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Skin Diseases, Metabolic [MESH:D012875] (1574)   Porphyrias [MESH:D011164] (917)   Porphyrias, Hepatic [MESH:D017094] (881)   Coproporphyria, Hereditary [MESH:D046349] (38)  Porphyria Cutanea Tarda [MESH:D017119] (766)  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 B Deficiency [MESH:D014804] (1817)   Thiamine Deficiency [MESH:D013832] (139)  Overnutrition [MESH:D044343] (4463)   Obesity [MESH:D009765] (4462) C19. Endocrine System Diseases  C19. Endocrine System Diseases  Endocrine System Diseases [MESH:D004700] (8062)   Adrenal Gland Diseases [MESH:D000307] (2397)   Adrenal Cortex Diseases [MESH:D000303] (969)   Pigmented Nodular Adrenocortical Disease, Primary, 2 [MESH:C566472] (21)  Adrenal Insufficiency [MESH:D000309] (1599)   Adrenoleukodystrophy [MESH:D000326] (1348)  Diabetes Mellitus [MESH:D003920] (6159)   Diabetes, Gestational [MESH:D016640] (1152)  Diabetes Mellitus, Experimental [MESH:D003921] (4771)  Diabetes Mellitus, Type 2 [MESH:D003924] (4219)  Diabetes Complications [MESH:D048909] (4129)   Diabetic Cardiomyopathies [MESH:D058065] (1995)  Diabetic Nephropathies [MESH:D003928] (2301)  Diabetic Neuropathies [MESH:D003929] (2443)  Diabetic Angiopathies [MESH:D003925] (1984)   Diabetic Retinopathy [MESH:D003930] (1371)  Dwarfism [MESH:D004392] (698)   Kniest dysplasia [MESH:C537207] (89)  Endocrine Gland Neoplasms [MESH:D004701] (4925)   Ovarian Neoplasms [MESH:D010051] (3275)  Pancreatic Neoplasms [MESH:D010190] (3820)   Carcinoma, Pancreatic Ductal [MESH:D021441] (1056)  Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, Hurthle cell [MESH:C536913] (24)  Thyroid cancer, papillary [MESH:C536915] (111)  Gonadal Disorders [MESH:D006058] (5088)   Disorders of Sex Development [MESH:D012734] (1637)   46, XX Disorders of Sex Development [MESH:D058489] (644)   Aromatase deficiency [MESH:C537436] (277)  46, XY Disorders of Sex Development [MESH:D058490] (1060)   Kallmann Syndrome [MESH:D017436] (147)  Gonadal Dysgenesis [MESH:D006059] (492)   Sexual Infantilism [MESH:D050035] (277)  Hypogonadism [MESH:D007006] (1123)   Kallmann Syndrome [MESH:D017436] (147)  Sexual Infantilism [MESH:D050035] (277)  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)   Hypopituitarism [MESH:D007018] (732)   Holoprosencephaly 9 [MESH:C563659] (35)  Thyroid Diseases [MESH:D013959] (2808)   Thyroid Neoplasms [MESH:D013964] (2040)   Thyroid cancer, Hurthle cell [MESH:C536913] (24)  Thyroid cancer, papillary [MESH:C536915] (111) C20. Immune System Diseases  C20. Immune System Diseases  Z. Exceptions (350)   Not Fully Specified [NFS] (350)  Immune System Diseases [MESH:D007154] (7674)   Autoimmune Diseases [MESH:D001327] (5067)   Arthritis, Rheumatoid [MESH:D001172] (3601)  Glomerulonephritis, IGA [MESH:D005922] (897)  Lupus Erythematosus, Systemic [MESH:D008180] (2317)  Autoimmune Diseases of the Nervous System [MESH:D020274] (2238)   Demyelinating Autoimmune Diseases, CNS [MESH:D020278] (1732)   Multiple Sclerosis [MESH:D009103] (1716)   Multiple Sclerosis, Relapsing-Remitting [MESH:D020529] (170)  Hypersensitivity [MESH:D006967] (5873)   Hypersensitivity, Delayed [MESH:D006968] (3408)   Dermatitis, Allergic Contact [MESH:D017449] (3241)  Hypersensitivity, Immediate [MESH:D006969] (4980)   Respiratory Hypersensitivity [MESH:D012130] (4250)   Asthma [MESH:D001249] (3914)  Immunologic Deficiency Syndromes [MESH:D007153] (3788)   Ataxia Telangiectasia [MESH:D001260] (142)  HIV Infections [MESH:D015658] (3402)  Immunoproliferative Disorders [MESH:D007160] (4761)   Hypergammaglobulinemia [MESH:D006942] (137)   Mevalonate Kinase Deficiency [MESH:D054078] (38)  Lymphoproliferative Disorders [MESH:D008232] (4734)   Multiple Myeloma [MESH:D009101] (2767)  Leukemia, Lymphoid [MESH:D007945] (3047)   Leukemia, B-Cell [MESH:D015448] (2564)   Leukemia, Lymphocytic, Chronic, B-Cell [MESH:D015451] (2562)  Precursor Cell Lymphoblastic Leukemia-Lymphoma [MESH:D054198] (1754)   Precursor B-Cell Lymphoblastic Leukemia-Lymphoma [MESH:D015452] (354)  Lymphangiomyoma [MESH:D008203] (163)   Lymphangioleiomyomatosis [MESH:D018192] (162)  Lymphoma [MESH:D008223] (3684)   Lymphoma, Non-Hodgkin [MESH:D008228] (3330)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Follicular [MESH:D008224] (1025)  Lymphoma, B-Cell [MESH:D016393] (2624)   Burkitt Lymphoma [MESH:D002051] (691)  Lymphoma, Large B-Cell, Diffuse [MESH:D016403] (2012)  Paraproteinemias [MESH:D010265] (2791)   Multiple Myeloma [MESH:D009101] (2765) C22. Animal Diseases  C22. Animal Diseases  Animal Diseases [MESH:D000820] (3656)   Mammary Neoplasms, Animal [MESH:D015674] (2735) C23. Pathological Conditions, Signs and Symptoms  C23. Pathological Conditions, Signs and Symptoms  Pathological Conditions, Anatomical [MESH:D020763] (6074)   Plaque, Atherosclerotic [MESH:D058226] (696)  Calculi [MESH:D002137] (756)   Gallstones [MESH:D042882] (350)  Cysts [MESH:D003560] (133)   Van der Woude syndrome [MESH:C536528] (33)  Hernia [MESH:D006547] (2825)   Hernia, Diaphragmatic [MESH:D006548] (2647)  Intervertebral Disc Displacement [MESH:D007405] (520)   Intervertebral disc disease [MESH:C535531] (514)  Hypertrophy [MESH:D006984] (4476)   Splenomegaly [MESH:D013163] (1258)  Cardiomegaly [MESH:D006332] (3802)   Hypertrophy, Left Ventricular [MESH:D017379] (1430)  Pathologic Processes [MESH:D010335] (9863)   Hyperammonemia [MESH:D022124] (322)  Hyperplasia [MESH:D006965] (2463)  Inflammation [MESH:D007249] (5241)  Ischemia [MESH:D007511] (3049)  Neointima [MESH:D058426] (814)  Nerve Degeneration [MESH:D009410] (4061)  Arrhythmias, Cardiac [MESH:D001145] (4658)   Bradycardia [MESH:D001919] (1899)  Chromosome Aberrations [MESH:D002869] (2352)   Micronuclei, Chromosome-Defective [MESH:D048629] (1013)  Death [MESH:D003643] (1328)   Death, Sudden [MESH:D003645] (725)  Disease Attributes [MESH:D020969] (3654)   Critical Illness [MESH:D016638] (296)  Disease Progression [MESH:D018450] (2868)  Recurrence [MESH:D012008] (830)  Facies [MESH:D019066] (738)   Mowat-Wilson syndrome [MESH:C536990] (37)  Emphysema [MESH:D004646] (1096)   Subcutaneous Emphysema [MESH:D013352] (82)   alpha 1-Antitrypsin Deficiency [MESH:D019896] (80)  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)   Gastrointestinal Hemorrhage [MESH:D006471] (815)   Peptic Ulcer Hemorrhage [MESH:D010438] (553)  Intracranial Hemorrhages [MESH:D020300] (3241)   Cerebral Hemorrhage [MESH:D002543] (2872)  Menstruation Disturbances [MESH:D008599] (926)   Amenorrhea [MESH:D000568] (817)  Metaplasia [MESH:D008679] (1469)   Neovascularization, Pathologic [MESH:D009389] (829)  Necrosis [MESH:D009336] (4019)   Osteonecrosis [MESH:D010020] (537)   Femur Head Necrosis [MESH:D005271] (266)  Neoplastic Processes [MESH:D009385] (5317)   Neoplasm Invasiveness [MESH:D009361] (3388)  Neoplasm Metastasis [MESH:D009362] (4441)  Neoplasm Recurrence, Local [MESH:D009364] (1949)  Carcinogenesis [MESH:D063646] (3391)   Cell Transformation, Neoplastic [MESH:D002471] (3389)  Postoperative Complications [MESH:D011183] (5311)   Reperfusion Injury [MESH:D015427] (4968)   Myocardial Reperfusion Injury [MESH:D015428] (3500)  Signs and Symptoms [MESH:D012816] (10659)   Cyanosis [MESH:D003490] (288)  Body Temperature Changes [MESH:D001832] (3130)   Fever [MESH:D005334] (2856)  Body Weight [MESH:D001835] (4972)   Body Weight Changes [MESH:D001836] (3206)   Weight Gain [MESH:D015430] (2595)  Weight Loss [MESH:D015431] (2512)   Emaciation [MESH:D004614] (2285)   Cachexia [MESH:D002100] (2283)  Overweight [MESH:D050177] (4455)   Obesity [MESH:D009765] (4454)  Edema [MESH:D004487] (3726)   Edema, Cardiac [MESH:D004489] (27)  Neurologic Manifestations [MESH:D009461] (8702)   Dyskinesias [MESH:D020820] (3285)   Catalepsy [MESH:D002375] (1429)  Ataxia [MESH:D001259] (984)   Cerebellar Ataxia [MESH:D002524] (289)   Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Neurobehavioral Manifestations [MESH:D019954] (4706)   Communication Disorders [MESH:D003147] (2918)   Learning Disorders [MESH:D007859] (2727)  Language Disorders [MESH:D007806] (653)   Speech Disorders [MESH:D013064] (482)   Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Intellectual Disability [MESH:D008607] (1476)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Mowat-Wilson syndrome [MESH:C536990] (37)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Psychomotor Disorders [MESH:D011596] (576)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Paralysis [MESH:D010243] (2298)   Gastroparesis [MESH:D018589] (732)  Pupil Disorders [MESH:D011681] (194)   Ectopia pupillae [MESH:C536185] (43)  Seizures [MESH:D012640] (4502)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Sensation Disorders [MESH:D012678] (5009)   Hearing Disorders [MESH:D006311] (2101)   Hearing Loss [MESH:D034381] (2066)   Hearing Loss, Conductive [MESH:D006314] (134)   Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness [MESH:C565046] (89)  Hearing Loss, Sensorineural [MESH:D006319] (1227)   Athabaskan brainstem dysgenesis [MESH:C535397] (40)  Stickler syndrome, type 1 [MESH:C537492] (89)  Deafness, Autosomal Recessive 37 [MESH:C564331] (35)  Somatosensory Disorders [MESH:D020886] (4000)   Hyperalgesia [MESH:D006930] (3929)  Vision Disorders [MESH:D014786] (444)   Color Vision Defects [MESH:D003117] (72)  Pain [MESH:D010146] (4511)   Arthralgia [MESH:D018771] (191)  Signs and Symptoms, Respiratory [MESH:D012818] (2724)   Anoxia [MESH:D000860] (1698)  Urological Manifestations [MESH:D020924] (3532)   Proteinuria [MESH:D011507] (3293)   Albuminuria [MESH:D000419] (2394) C24. Occupational Diseases  C24. Occupational Diseases  Occupational Diseases [MESH:D009784] (3402)   Pneumoconiosis [MESH:D011009] (2670)   Asbestosis [MESH:D001195] (935)  Silicosis [MESH:D012829] (1273) 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)  Mercury Poisoning [MESH:D008630] (193)  Substance-Related Disorders [MESH:D019966] (6308)   Amphetamine-Related Disorders [MESH:D019969] (2858)  Cocaine-Related Disorders [MESH:D019970] (3054)  Drug Overdose [MESH:D062787] (513)  Marijuana Abuse [MESH:D002189] (1132)  Phencyclidine Abuse [MESH:D010623] (288)  Tobacco Use Disorder [MESH:D014029] (628)  Alcohol-Related Disorders [MESH:D019973] (3869)   Alcohol-Induced Disorders [MESH:D020751] (3350)   Cardiomyopathy, Alcoholic [MESH:D002310] (354) 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)  Radiation Injuries [MESH:D011832] (2718)   Radiation Injuries, Experimental [MESH:D011833] (2662)  Thoracic Injuries [MESH:D013898] (1831)   Lung Injury [MESH:D055370] (1814) D01. Inorganic Chemicals  D01. Inorganic Chemicals  Silicon Compounds [MESH:D017655] (555)   Silanes [MESH:D012821] (207) D02. Organic Chemicals  D02. Organic Chemicals  Organic Chemicals [MESH:D009930] (75987)   Organosilicon Compounds [MESH:D017646] (652)   Silanes [MESH:D012821] (207) D03. Heterocyclic Compounds  D03. Heterocyclic Compounds  Heterocyclic Compounds [MESH:D006571] (56330)   Heterocyclic Compounds, 1-Ring [MESH:D006573] (30631)   Azoles [MESH:D001393] (10398)   Triazoles [MESH:D014230] (727) E. Analytical, Diagnostic and Therapeutic Techniques and Equipment  E. Analytical, Diagnostic and Therapeutic Techniques and Equipment  Diagnosis [MESH:D003933] (1924)   Diagnostic Techniques and Procedures [MESH:D019937] (1902)   Physical Examination [MESH:D010808] (1041)   Facies [MESH:D019066] (704)   Mowat-Wilson syndrome [MESH:C536990] (37) 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)  Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Mowat-Wilson syndrome [MESH:C536990] (37)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Skeletal Defects, Genital Hypoplasia, And Mental Retardation [MESH:C567306] (52)  Psychomotor Disorders [MESH:D011596] (250)   Phosphoglycerate Dehydrogenase Deficiency [MESH:C566618] (83)  Mental Disorders [MESH:D001523] (2063)   Delirium, Dementia, Amnestic, Cognitive Disorders [MESH:D019965] (487)   Dementia [MESH:D003704] (471)   Alzheimer Disease [MESH:D000544] (242)   Alzheimer disease type 2 [MESH:C536595] (165)  Frontotemporal Lobar Degeneration [MESH:D057174] (112)   Frontotemporal Dementia [MESH:D057180] (109)   Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia [MESH:C563476] (57)  Mental Disorders Diagnosed in Childhood [MESH:D019952] (1245)   Developmental Disabilities [MESH:D002658] (151)   Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  Intellectual Disability [MESH:D008607] (1109)   Hoyeraal Hreidarsson syndrome [MESH:C536068] (154)  Aniridia cerebellar ataxia mental deficiency [MESH:C536370] (43)  Mowat-Wilson syndrome [MESH:C536990] (37)  Arginine:Glycine Amidinotransferase Deficiency [MESH:C567192] (66)  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)   Aromatase deficiency [MESH:C537436] (277)