Human Diseases

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 Immune system diseases
   Allergies and autoimmune diseases
     H00079  Asthma [PATH:hsa05310]
     H00080  Systemic lupus erythematosus [PATH:hsa05322]
     H00081  Hashimoto thyroiditis [PATH:hsa05320]
     H00082  Graves disease [PATH:hsa05320]
     H00083  Allograft rejection [PATH:hsa05330]
     H00084  Graft-versus-host disease [PATH:hsa05332]
     H00346  Extrinsic allergic alveolitis
     H00630  Rheumatoid arthritis [PATH:hsa05323]
     H01191  Asthma with nasal polyps and aspirin intolerance
     H01232  Syndromic multisystem autoimmune disease [PATH:hsa04120 hsa04144]
     H01275  Interleukin 1 receptor antagonist deficiency (DIRA)
     H01357  Allergic contact dermatitis
     H01358  Atopic dermatitis
     H01359  Anaphylaxis
     H01360  Allergic rhinitis
     H01782  Eosinophilic gastrointestinal disorder
     H01361  Eosinophilic esophagitis
     H01362  Dermatitis herpetiformis
     H01452  Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection
     H01476  Behcet disease
     H01479  Castleman disease [PATH:hsa04060 hsa04630 hsa04640]
     H01492  Systemic sclerosis
     H01500  Lupus nephritis
     H01502  Sjogren syndrome [PATH:hsa04620 hsa04630]
     H01504  Vogt-Koyanagi-Harada syndrome
     H01516  Adult onset Still disease
     H01581  IgA nephropathy
     H01594  Myasthenia gravis
     H01595  Cutaneous lupus erythematosus
     H01596  Lambert-Eaton myasthenic syndrome
     H01672  Juvenile idiopathic arthritis [PATH:hsa04060 hsa04630]
     H01674  Ankylosing spondylitis [PATH:hsa04612]
     H01685  Autoimmune hepatitis
     H01710  Mixed connective tissue disease
     H01721  Anti-glomerular basement membrane (GBM) disease
     H01726  Membranoproliferative glomerulonephritis [PATH:hsa04610]
     H01863  Atopic myelitis
     H02159  Familial cold autoinflammatory syndrome
     H02402  Thyroid eye disease
     H02414  Autoinflammation, panniculitis, and dermatosis syndrome
   Primary immunodeficiency
     H01725  Primary immunodeficiency disease
     H00085  Agammaglobulinemias [PATH:hsa05340]
     H00086  Hyper IgM syndromes, autosomal recessive type [PATH:hsa05340]
     H00087  Other humoral immunodeficiencies
     H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
     H00088  Common variable immunodeficiency [PATH:hsa05340]
     H00089  IFN-gamma/IL-12 axis
     H00090  NK cell defects [PATH:hsa04650]
     H00091  T-B+Severe combined immunodeficiency [PATH:hsa05340]
     H00092  T-B-Severe combined immunodeficiency [PATH:hsa05340]
     H01244  T+B+Severe combined immunodeficiencies (SCIDs)
     H00093  Combined immunodeficiency [PATH:hsa05340]
     H02309  Adenosine deaminase deficiency [PATH:hsa00230 hsa05340]
     H01128  Reticular dysgenesis [PATH:hsa00230]
     H00094  Immunodeficiency associated with DNA repair defects [PATH:hsa03440]
     H01344  Nijmegen syndrome [PATH:hsa03440 hsa03450]
     H02015  LIG4 syndrome [PATH:hsa03450]
     H00095  Ectodermal dysplasia associated immunodeficiency [PATH:hsa05340]
     H01245  Immunodeficiency without anhidrotic ectodermal dysplasia
     H00096  Defects of toll-like receptor signaling [PATH:hsa04620]
     H00097  Chemokine receptor defect [PATH:hsa04060]
     H00098  Chronic granulomatous disease [PATH:hsa04666]
     H00099  Leukocyte adhesion deficiency [PATH:hsa04670]
     H00100  Neutropenic disorders
     H00939  Darsun syndrome
     H01218  P14 deficiency
     H00101  Other phagocyte defects
     H02021  Chediak-Higashi syndrome
     H02022  Griscelli syndrome
     H02024  Neutrophil specific granule deficiency
     H02025  Myeloperoxidase deficiency [PATH:hsa04145]
     H00102  Classic complement pathway component defects [PATH:hsa04610]
     H00103  Late complement pathway defects [PATH:hsa04610]
     H00104  Alternative complement pathway component defects [PATH:hsa04610]
     H00105  Mannose-binding lectin pathway component defects [PATH:hsa04610]
     H00106  Complement regulatory protein defects [PATH:hsa04610]
     H00107  Other well-defined immunodeficiency syndromes [PATH:hsa05340]
     H00108  Autoimmune lymphoproliferative syndromes [PATH:hsa04210]
     H00109  Familial hemophagocytic lymphohistiocytosis
     H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [PATH:hsa03450]
     H00984  Bare lymphocyte syndrome type1 [PATH:hsa02010 hsa04145 hsa04612 hsa05340]
     H00985  Bare lymphocyte syndrome type2 [PATH:hsa04612 hsa05340]
     H00931  Growth hormone insensitivity with immunodeficiency [PATH:hsa04012 hsa04062 hsa04630]
     H00962  RIDDLE syndrome
     H01181  T-cell immunodeficiency congenital alopecia and nail dystrophy
     H00721  Pyogenic bacterial infections, recurrent, due to MYD88 deficiency [PATH:hsa04210 hsa04620]
     H01240  Immune thrombocytopenia [PATH:hsa04145 hsa04380 hsa04666]
     H01387  Activated PI3K-delta syndrome [PATH:hsa00562 hsa04151 hsa04660 hsa04662 hsa04664 hsa04666 hsa04670]
     H01523  Wiskott-Aldrich syndrome [PATH:hsa04144 hsa04810]
     H01524  DiGeorge syndrome
     H01968  Hyper-IgE syndrome
     H01969  X-linked lymphoproliferative syndrome [PATH:hsa04650 hsa04210]
     H01970  Lymphoproliferative syndrome 1 [PATH:hsa04660]
     H01971  IPEX syndrome [PATH:hsa04659 hsa05321]
     H01972  Autoimmune polyendocrinopathy syndrome type 1 [PATH:hsa05340]
   Other immune system diseases
     H00286  Crohn disease [PATH:hsa04621 hsa04060 hsa04630 hsa05321 hsa04140]
     H01466  Ulcerative colitis [PATH:hsa04060 hsa04630 hsa05321]
     H01227  Inflammatory bowel disease (IBD) [PATH:hsa04612 hsa04060 hsa04630 hsa05321 hsa04140]
     H00285  Blau syndrome [PATH:hsa04621]
     H01309  Sarcoidosis, early-onset [PATH:hsa04621]
     H00287  Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome [PATH:hsa04621]
     H00288  Familial Mediterranean fever [PATH:hsa04621]
     H00282  Cryopyrin associated periodic syndrome [PATH:hsa04621]
     H00290  Aicardi-Goutieres syndrome [PATH:hsa04623 hsa03030 hsa04622]
     H00291  Familial chilblain lupus (FCL) [PATH:hsa04623]
     H00206  Mevalonate kinase deficiency [PATH:hsa00900]
     H00912  Tumor necrosis factor receptor-associated periodic syndrome [PATH:hsa04010 hsa04060 hsa04210]
     H01094  Eosinophil peroxidase deficiency [PATH:hsa05310]
     H01109  Chronic mucocutaneous candidiasis [PATH:hsa04621 hsa04145 hsa04060 hsa04062 hsa04620 hsa04630]
     H01117  Chronic recurrent multifocal osteomyelitis [PATH:hsa00561 hsa00564]
     H01136  Carboxypeptidase N deficiency
     H01491  Neuromyelitis optica
     H01527  Chronic inflammatory demyelinating polyradiculoneuropathy
     H01689  Fisher syndrome
     H01698  Giant cell arteritis
     H01724  HTLV1-associated myelopathy [PATH:hsa05166]
     H01741  Autoinflammation lipodystrophy and dermatosis syndrome [PATH:hsa03050]
     H01743  Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation [PATH:hsa04064]
     H01744  Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis [PATH:hsa04621]
     H01746  STING-associated vasculopathy with onset in infancy [PATH:hsa04621 hsa04622 hsa04623]
     H01748  Autoinflammation with infantile enterocolitis [PATH:hsa04621]
     H01761  Immunoglobulin G4-related disease
     H01765  Eosinophilic sinusitis
     H01767  Henoch-Schonlein purpura nephritis
     H01812  Rasmussen encephalitis [PATH:hsa04660]
     H01842  Bickerstaff brainstem encephalitis
     H01924  Sydenham chorea
     H02133  Vici syndrome
     H02467  Neonatal inflammatory skin and bowel disease
     H02484  X-linked reticulate pigmentary disorder with systemic manifestations
 Nervous system diseases
 Cardiovascular diseases
   Cardiac diseases
   Vascular diseases
     H01849  Peripheral arteriovenous malformation
     H00532  Parkes Weber syndrome [PATH:hsa04010]
     H00533  Hereditary hemorrhagic telangiectasia [PATH:hsa04350]
     H00534  Cerebral cavernous malformation
     H01482  Infantile hemangioma [PATH:hsa04370]
     H01875  Infantile hepatic hemangioma
     H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) [PATH:hsa04330]
     H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) [PATH:hsa04510 hsa04512]
     H01757  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
     H00771  Inherited erythromelalgia
     H00800  Loeys-Dietz syndrome [PATH:hsa04010 hsa04060 hsa04144 hsa04350 hsa04380 hsa04390 hsa04520]
     H00801  Familial thoracic aortic aneurysm and dissection [PATH:hsa04270 hsa04010 hsa04020 hsa04060 hsa04350 hsa04510 hsa04520 hsa04530 hsa04810]
     H00877  Brain small vessel disease [PATH:hsa04510 hsa04512]
     H00896  Lymphangioleiomyomatosis [PATH:hsa04115 hsa04150 hsa04910]
     H01471  Lymphangioma
     H01735  Lymphangiomatosis
     H00919  Arterial tortuosity syndrome
     H00939  Darsun syndrome
     H01002  Generalized arterial calcification of infancy [PATH:hsa00230 hsa00500 hsa00740 hsa00760 hsa00770 hsa01100]
     H01006  Hereditary angioedema [PATH:hsa04610]
     H01120  Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
     H01382  Polyarteritis nodosa
     H00824  Calcification of joints and arteries [PATH:hsa00230 hsa00240 hsa00760 hsa01100]
     H01396  Moyamoya disease [PATH:hsa04270]
     H01433  Budd-Chiari syndrome
     H01465  Large-vessel vasculitis
     H01698  Giant cell arteritis
     H01468  Eosinophilic granulomatosis with polyangiitis
     H01625  Buerger disease
     H01626  Arteriosclerosis obliterans
     H01629  Chronic arterial occlusive disease
     H01630  Patent ductus arteriosus [PATH:hsa04270]
     H01620  Raynaud syndrome
     H01658  Microscopic polyangiitis
     H01687  Extrahepatic portal vein obstruction
     H01723  Deep vein thrombosis
     H01718  Kawasaki disease
     H01742  Coronary artery disease [PATH:hsa04022 hsa04310]
     H01788  Klippel-Trenaunay-Weber syndrome
     H01809  Sturge-Weber syndrome
     H01866  Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
     H02088  Primary intraosseous vascular malformation
   Hematologic diseases
     H00228  Thalassemia
     H01752  ATR-X syndrome
     H00229  Sickle cell anemia
     H00230  Hereditary spherocytosis
     H00231  Hereditary elliptocytosis
     H00232  Hereditary stomatocytosis
     H00219  Hemophilia [PATH:hsa04610 hsa04512 hsa04640]
     H01254  Congenital prothrombin deficiency [PATH:hsa04610]
     H00220  Factor V deficiency [PATH:hsa04610]
     H00221  Combined deficiency of factors V and VIII [PATH:hsa04141]
     H00222  Afibrinogenemia [PATH:hsa04610]
     H00223  Inherited thrombophilia [PATH:hsa04610]
     H01740  Macrothrombocytopenia [PATH:hsa04151 hsa04510 hsa04611 hsa04810]
     H00224  Bernard-Soulier syndrome [PATH:hsa04512 hsa04640]
     H00233  MYH9-related disease [PATH:hsa04530 hsa04810]
     H02051  May-Hegglin anomaly [PATH:hsa04530 hsa04810]
     H02052  Sebastian syndrome
     H02053  Fechtner syndrome [PATH:hsa04530 hsa04810]
     H00226  Glanzmann thrombasthenia [PATH:hsa04512 hsa04510]
     H00225  Thrombotic thrombocytopenic purpura
     H00227  Congenital amegakaryocytic thrombocytopenia [PATH:hsa04060]
     H00234  Pelger-Huet anomaly
     H00235  Methemoglobinemia [PATH:hsa00520]
     H00236  Congenital polycythemia
     H00237  Diamond-Blackfan anemia [PATH:hsa03010]
     H00238  Fanconi anemia [PATH:hsa03460]
     H00490  Diaphyseal dysplasia with anemia [PATH:hsa00590]
     H00578  Epstein syndrome [PATH:hsa04530 hsa04810]
     H00664  Anemia due to disorders of glycolytic enzymes [PATH:hsa00010]
     H00668  Anemia due to disorders of glutathione metabolism [PATH:hsa00480 hsa00030]
     H02312  Glutathione synthetase deficiency [PATH:hsa00480 hsa04216]
     H00674  Anemia due to disorders of nucleotide metabolism [PATH:hsa00230 hsa00240]
     H00917  Congenital dyserythropoietic anemias (CDAs) [PATH:hsa04141]
     H02256  Factor VII deficiency [PATH:hsa04610]
     H02257  Factor X deficiency [PATH:hsa04610]
     H00938  Factor XI deficiency [PATH:hsa04610]
     H00941  Factor XII deficiency [PATH:hsa04610]
     H00945  Factor XIII deficiency [PATH:hsa04610]
     H02259  Stormorken syndrome [PATH:hsa04020 hsa04611]
     H00978  Thrombocytopenia (THC) [PATH:hsa04530]
     H00982  Sideroblastic anemia
     H00983  Alpha-2-plasmin inhibitor (a2-PI) deficiency [PATH:hsa04610]
     H00920  Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [PATH:hsa00190 hsa01100]
     H00995  Combined deficiency of vitamin K-dependent clotting factors [PATH:hsa00130]
     H01013  Adult i phenotype [PATH:hsa00601]
     H01031  Orthostatic intolerance [PATH:hsa04721]
     H01053  Paroxysmal nocturnal hemoglobinuria [PATH:hsa00563]
     H01078  Fletcher factor deficiency [PATH:hsa04610]
     H01096  Pyruvate kinase deficiency [PATH:hsa00010 hsa00230 hsa00620]
     H01106  Plasminogen activator inhibitor type 1 deficiency [PATH:hsa04115 hsa04610]
     H01125  Hereditary pyropoikilocytosis
     H01132  Aplastic anemia [PATH:hsa04380 hsa04612]
     H01145  Atransferrinemia [PATH:hsa04978]
     H01162  Scott syndrome
     H01183  Thiamine-responsive megaloblastic anemia
     H01196  Hypochromic microcytic anemia [PATH:hsa04142 hsa04978]
     H01206  Plasminogen deficiency [PATH:hsa04080 hsa04610]
     H01214  Rh-null hemolytic anemia (RHN)
     H01235  Bleeding disorder platelet-type
     H01252  Hereditary folate malabsorption [PATH:hsa04977 hsa04978]
     H01277  Vitamin B12 deficiency anaemia [PATH:hsa04977]
     H01278  Iron-refractory iron deficiency anemia
     H01303  Hypercatabolic hypoproteinemia [PATH:hsa04612]
     H01381  Antithrombin III deficiency [PATH:hsa04610]
     H01434  Atypical hemolytic uremic syndrome [PATH:hsa04610]
     H01481  Myelodysplastic syndrome [PATH:hsa03040 hsa04550]
     H01484  5q- syndrome [PATH:hsa03010]
     H01580  Vitamin C deficiency
     H01584  IgA vasculitis
     H01585  Autoimmune hemolytic anemia
     H01586  Acquired pure red cell aplasia
     H01587  Disseminated intravascular coagulation
     H01697  Antiphospholipid syndrome
     H01720  Southeast Asian ovalocytosis
     H01759  Autoimmune hemorrhaphilia XIII/13
     H01938  Hypermanganesemia with dystonia
     H01978  Dehydrated hereditary stomatocytosis
     H01979  Overhydrated hereditary stomatocytosis
     H02001  Familial pseudohyperkalemia
     H02002  Cryohydrocytosis
     H02092  von Willebrand disease [PATH:hsa04610 hsa04611]
     H02093  Platelet-type von Willebrand disease [PATH:hsa04611]
     H02097  Gray platelet syndrome
   Hypertensive diseases
 Respiratory diseases
   Lung diseases
     H00904  Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
     H00830  Alveolar capillary dysplasia with misalignment of pulmonary veins
     H01103  Alpha-1-antitrypsin deficiency [PATH:hsa04610]
     H01110  Pneumothorax
     H01122  Congenital pulmonary alveolar proteinosis [PATH:hsa04060 hsa04630]
     H01298  Pulmonary alveolar microlithiasis
     H01299  Idiopathic pulmonary fibrosis
     H01714  Chronic obstructive pulmonary disease (COPD)
     H01716  Idiopathic interstitial pneumonias
     H01727  Primary alveolar hypoventilation syndrome
     H02124  Interstitial lung and liver disease
     H02466  Rajab interstitial lung disease with brain calcification [PATH:hsa00970]
   Tracheobronchial diseases
 Endocrine and metabolic diseases
     H00409  Type 2 diabetes mellitus [PATH:hsa04110 hsa04115 hsa04350 hsa04911 hsa04930 hsa04972 hsa04330 hsa03320 hsa04310 hsa04141]
     H00408  Type 1 diabetes mellitus [PATH:hsa04940 hsa04660 hsa04060 hsa04630 hsa04722]
     H00410  Maturity onset diabetes of the young (MODY) [PATH:hsa04930 hsa04910]
     H00512  Permanent neonatal diabetes mellitus [PATH:hsa04910]
     H00513  Transient neonatal diabetes mellitus
     H00766  Wolcott-Rallison syndrome [PATH:hsa04141]
     H00854  Wolfram syndrome [PATH:hsa04141]
     H00942  Rabson-Mendenhall syndrome [PATH:hsa04520 hsa04910 hsa04960]
     H01224  Ketosis-prone diabetes mellitus
     H01228  Insulin-resistant diabetes mellitus with acanthosis nigricans [PATH:hsa04520 hsa04910 hsa04930 hsa04960]
     H01377  Mitchell-Riley syndrome
   Hypothalamus and pituitary gland diseases
     H00253  Neurohypophyseal diabetes insipidus (NPDI)
     H00254  Growth hormone deficiency
     H02035  Isolated growth hormone deficiency
     H02036  Combined pituitary hormone deficiency
     H02037  Laron syndrome [PATH:hsa04080 hsa04060 hsa04630 hsa04151]
     H02038  X-linked panhypopituitarism
     H02039  Kowarski syndrome [PATH:hsa04060 hsa04151 hsa04080 hsa04630]
     H02040  Insulin-like growth factor I deficiency [PATH:hsa04151]
     H01102  Pituitary adenomas [PATH:hsa05202 hsa04012 hsa04110 hsa04210 hsa04910]
     H01618  Pituitary gigantism
     H01483  Acromegaly
     H00255  Hypogonadotropic hypogonadism [PATH:hsa04912 hsa04080 hsa04810]
     H00937  Precocious puberty [PATH:hsa04020 hsa04080 hsa04912]
     H02018  Central precocious puberty
     H01011  Adrenocorticotropic hormone deficiency
     H01253  Isolated follicle-stimulating hormone deficiency [PATH:hsa04080 hsa04912]
     H01274  Growth delay due to insulin-like growth factor I resistance [PATH:hsa04114 hsa04510 hsa04520 hsa04730 hsa04914]
     H01294  Nephrogenic syndrome of inappropriate antidiuresis [PATH:hsa04080 hsa04962]
     H01388  Hyperprolactinemia [PATH:hsa04151 hsa04630 hsa04917]
     H01682  Syndrome of inappropriate secretion of antidiuretic hormone [PATH:hsa04080 hsa04962]
     H01683  Disorders of antidiuretic hormone (ADH) secretion [PATH:hsa04080 hsa04962]
     H01699  Isolated TSH deficiency [PATH:hsa04918]
     H01701  Pituitary TSH hypersecretion
     H01700  Hypopituitarism [PATH:hsa04080]
     H01860  Abnormal pituitary gonadotropin secretion [PATH:hsa04912]
     H01864  Excessive secretion of growth hormone
     H01907  Acid-labile subunit deficiency
   Thyroid gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Gonadal diseases
   Other endocrine and metabolic diseases
     H01635  Hyperlipidemia
     H00239  Bartter syndrome [PATH:hsa04960]
     H00240  Gitelman syndrome
     H01522  Zollinger-Ellison syndrome [PATH:hsa04971]
     H00719  Leprechaunism [PATH:hsa04520 hsa04910 hsa04960]
     H02323  Ruijs-Aalfs syndrome
     H01733  Werner syndrome
     H01565  Wernicke encephalopathy [PATH:hsa04977]
     H01566  Beriberi
     H01582  Pellagra
     H02059  Leptin deficiency [PATH:hsa04080 hsa04920 hsa04630 hsa04152 hsa04060]
     H02060  Leptin receptor deficiency [PATH:hsa04080 hsa04920 hsa04630 hsa04152 hsa04060]
     H02105  Prohormone convertase 1/3 deficiency
     H02106  Genetic obesity [PATH:hsa04080 hsa04714 hsa04923 hsa03320]
     H02235  Morbid obesity and spermatogenic failure
     H02384  Abdominal obesity-metabolic syndrome
     H02499  AL amyloidosis
 Digestive system diseases
   Mouth and dental diseases
   Gastrointestinal diseases
     H00666  Peutz-Jeghers syndrome [PATH:hsa04150 hsa04920]
     H01016  Primary bile acid malabsorption [PATH:hsa04976]
     H01023  Juvenile polyposis syndrome [PATH:hsa04060 hsa04350 hsa04110 hsa04310 hsa04520 hsa05200 hsa05210]
     H01024  Hereditary mixed polyposis syndrome [PATH:hsa04060 hsa04350]
     H01025  Familial adenomatous polyposis [PATH:hsa04310 hsa04810 hsa05200 hsa05210 hsa03410]
     H01174  Congenital diarrhea [PATH:hsa04978]
     H01276  Chronic idiopathic intestinal pseudo-obstruction [PATH:hsa04010 hsa04510]
     H01469  Short bowel syndrome
     H01602  Gastroesophageal reflux disease
     H01615  Irritable bowel syndrome
     H01634  Peptic ulcer
     H01782  Eosinophilic gastrointestinal disorder
     H01853  Chronic nonspecific multiple ulcers of the small intestine
     H01871  Isolated hypoganglionosis
     H01874  Cronkhite-Canada syndrome
     H01901  Barrett esophagus
     H02122  Chronic atrial and intestinal dysrhythmia [PATH:hsa04114]
     H02123  Celiac disease
   Liver diseases
   Pancreas diseases
 Urinary system diseases
 Reproductive system diseases
   Reproductive system diseases
     H00607  46,XY gonadal dysgenesis
     H00608  46,XY disorder of sex development due to testosterone secretion defect [PATH:hsa00140]
     H00609  Persistent Mullerian duct syndrome [PATH:hsa04060 hsa04350]
     H00598  46,XX testicular disorder of sex development
     H00599  Ovarian dysgenesis [PATH:hsa04913]
     H00600  Mullerian agenesis [PATH:hsa04310]
     H00627  Premature ovarian failure [PATH:hsa04913]
     H01039  Ovarian hyperstimulation syndrome [PATH:hsa04080]
     H01607  Galactorrhea
     H01639  Endometriosis
     H01640  Uterine leiomyoma
     H01739  Polycystic ovary syndrome
     H01897  Oocyte maturation defect
     H00289  Recurrent hydatidiform moles [PATH:hsa04621]
     H00890  Azoospermia
     H01208  Globozoospermia
     H01282  Spermatogenic failure
     H02175  Hypospadias
     H02176  Cryptorchidism
     H02177  Androgen insensitivity syndrome
     H02317  SERKAL syndrome [PATH:hsa04310]
     H02318  Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal [PATH:hsa04310]
     H02335  Preimplantation embryonic lethality
 Musculoskeletal diseases
   Skeletal diseases
   Muscular diseases
     H00590  Congenital muscular dystrophies (CMD/MDC) [PATH:hsa04510 hsa04810]
     H01341  Collagen VI myopathy [PATH:hsa04151 hsa04510 hsa04512]
     H01778  Ullrich disease [PATH:hsa04151 hsa04510 hsa04512]
     H01340  Bethlem myopathy [PATH:hsa04151 hsa04510 hsa04512]
     H01338  Myosclerosis [PATH:hsa04151 hsa04510 hsa04512]
     H01958  Merosin-deficient congenital muscular dystrophy [PATH:hsa04512]
     H02307  Muscular dystrophy-dystroglycanopathy [PATH:hsa00515]
     H00120  Muscular dystrophy-dystroglycanopathy type A [PATH:hsa00515]
     H01960  Muscular dystrophy-dystroglycanopathy type B [PATH:hsa00515]
     H01959  Muscular dystrophy-dystroglycanopathy type C [PATH:hsa00515]
     H01957  Fukuyama congenital muscular dystrophy [PATH:hsa00515]
     H01961  Congenital muscular dystrophy type 1C [PATH:hsa00515]
     H01962  Congenital muscular dystrophy type 1D [PATH:hsa00515]
     H01310  Multi-minicore disease [PATH:hsa04020 hsa04730]
     H00562  Dystrophinopathies
     H01963  Duchenne muscular dystrophy
     H01964  Becker muscular dystrophy
     H00565  Sarcoglycanopathies
     H01965  Miyoshi myopathy
     H00568  Myotonic dystrophy
     H00563  Emery-Dreifuss muscular dystrophy
     H00591  Facioscapulohumeral muscular dystrophy
     H00704  Oculopharyngeal muscular dystrophy [PATH:hsa03015]
     H00592  Calpainopathy
     H00593  Limb-girdle muscular dystrophy [PATH:hsa00514 hsa00515 hsa04144 hsa04510 hsa04530 hsa04120]
     H00567  Limb-girdle muscular dystrophy 1C [PATH:hsa04144 hsa04510]
     H01974  Limb-girdle muscular dystrophy 2B
     H00594  Distal myopathy [PATH:hsa00520 hsa04260 hsa04530 hsa04141]
     H02182  Distal myopathy, Tateyama type [PATH:hsa04144 hsa04510]
     H00566  Distal myopathy with anterior tibial onset
     H01975  Welander distal myopathy
     H01976  Tibial muscular dystrophy
     H01977  Laing distal myopathy
     H00595  Myofibrillar myopathies [PATH:hsa04141 hsa04010 hsa04510]
     H00596  Nonaka distal myopathy (NM) [PATH:hsa00520]
     H00656  Scapuloperoneal myopathy [PATH:hsa04260 hsa04530]
     H00657  Reducing body myopathy
     H00697  X-linked myopathy with postural muscle atrophy
     H01810  Congenital myopathy
     H00698  Nemaline myopathy [PATH:hsa04260 hsa04360 hsa04666 hsa04810]
     H00699  Central core disease [PATH:hsa04020 hsa04730]
     H00700  Centronuclear myopathy [PATH:hsa00562 hsa04070 hsa04144 hsa04721 hsa04961]
     H00701  Congenital fiber type disproportion [PATH:hsa04260]
     H00702  Cap myopathy [PATH:hsa04260]
     H00703  Myosin storage myopathy [PATH:hsa04260 hsa04530]
     H01780  Non-dystrophic myotonia
     H00705  Myotonia congenita
     H00743  Paramyotonia congenita
     H00744  Potassium-aggravated myotonia
     H00215  Periodic paralysis [PATH:hsa04725]
     H00745  Hyperkalemic periodic paralysis (HyperPP)
     H00746  Hypokalemic periodic paralysis (HypoPP) [PATH:hsa04010 hsa04020 hsa04260 hsa04270 hsa04725 hsa04727 hsa04912]
     H00747  Thyrotoxic hypokalemic periodic paralysis
     H00748  Andersen-Tawil syndrome [PATH:hsa04725]
     H01129  Brody myopathy [PATH:hsa04020]
     H01229  Inclusion body myopathy 3 [PATH:hsa04530]
     H01291  Spheroid body myopathy
     H01505  Inclusion body myositis
     H01777  Schwartz-Jampel syndrome [PATH:hsa04512]
     H01781  Autophagic vacuolar myopathy
     H02320  Vacuolar myopathy with CASQ1 aggregates
     H01804  Isaacs syndrome
     H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
     H02084  Native American myopathy
     H02179  Rippling muscle disease [PATH:hsa04144 hsa04510]
     H02258  Tubular aggregate myopathy [PATH:hsa04020 hsa04611]
     H02321  Early-onset myopathy, areflexia, respiratory distress, and dysphagia
     H02452  Muscle hypertrophy [PATH:hsa04060]
   Other musculoskeletal diseases
 Skin diseases
   Skin and soft tissue diseases
     H00588  Kindler syndrome
     H00681  Acne inversa [PATH:hsa04310 hsa04330 hsa04722]
     H00672  Pseudofolliculitis barbae
     H00696  Haim-Munk syndrome [PATH:hsa04142]
     H00793  Poikiloderma with neutropenia
     H00795  Seborrhea-like dermatitis with psoriasiform element
     H00780  Atrichia with papular lesions
     H00782  Hypotrichosis and recurrent skin vesicles
     H00784  Localized autosomal recessive hypotrichosis
     H00786  Hypotrichosis
     H00842  Epidermodysplasia verruciformis
     H00880  Dyschromatosis symmetrica hereditaria [PATH:hsa04623]
     H00884  Familial progressive hyperpigmentation [PATH:hsa04916]
     H00885  Hypomelanosis of Ito
     H00895  Basal cell nevus syndrome [PATH:hsa04340 hsa05200 hsa05217]
     H00904  Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
     H00906  Macrocephaly, alopecia, cutis laxa, and scoliosis
     H00928  Nephropathy with pretibial epidermolysis bullosa and deafness
     H00944  Dowling-Degos disease [PATH:hsa00514]
     H00947  Pilomatricoma [PATH:hsa04310 hsa04510 hsa04520 hsa04530 hsa04670 hsa04916 hsa05200]
     H01133  Reynolds syndrome
     H01158  Alopecia universalis
     H01173  Stiff skin syndrome
     H01217  Primary localized cutaneous amyloidosis [PATH:hsa04060 hsa04630]
     H01357  Allergic contact dermatitis
     H01358  Atopic dermatitis
     H01362  Dermatitis herpetiformis
     H01372  Vitiligo [PATH:hsa04621]
     H01394  Cole disease [PATH:hsa00230 hsa00500 hsa00740 hsa00760 hsa00770]
     H00827  Brooke-Spiegler syndrome [PATH:hsa04622]
     H00828  Familial cylindromatosis
     H00829  Multiple familial trichoepithelioma
     H01473  Erythema nodosum leprosum
     H01476  Behcet disease
     H01492  Systemic sclerosis
     H01493  Localized Scleroderma
     H01502  Sjogren syndrome [PATH:hsa04620 hsa04630]
     H01595  Cutaneous lupus erythematosus
     H01643  Chilblains
     H01655  Granulomatosis with polyangiitis
     H01648  Pemphigus
     H01650  Pemphigoid
     H01652  Seborrheic dermatitis
     H01654  Lichen planus
     H01656  Psoriasis
     H01659  Pityriasis rubra pilaris
     H01660  Pityriasis rosea
     H01663  Pustular psoriasis
     H01661  Xanthoma
     H01673  Palmoplantar keratoderma
     H01690  Lichen sclerosus et atrophphicus
     H01694  Stevens-Johnson syndrome
     H01695  Erythema multiforme
     H01758  Relapsing polychondritis
     H01796  Uncombable hair syndrome
     H01799  Vibratory urticaria
     H01848  Acquired idiopathic generalized anhidrosis
     H01905  Trichomegaly [PATH:hsa04010]
     H01906  Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
     H01910  Infantile myofibromatosis [PATH:hsa04330 hsa04151]
     H01925  Transient neonatal zinc deficiency
     H00866  Trichothiodystrophy [PATH:hsa03022]
     H01307  Nonsyndromic congenital nail disorder [PATH:hsa04020 hsa04070 hsa04310]
     H02131  UV-sensitive syndrome [PATH:hsa03420 hsa04120]
     H02281  Isolated anhidrosis with normal sweat glands [PATH:hsa04020]
     H02350  Dyschromatosis universalis hereditaria
     H02429  Actinic keratosis
     H02486  HELIX syndrome [PATH:hsa04530]
 Congenital disorders of metabolism
 Congenital malformations
   Congenital malformations of the nervous system
   Congenital malformations of eye
   Congenital malformations of ear
   Congenital malformations of face and neck
   Congenital malformations of the circulatory system
   Congenital malformations of the digestive system
   Congenital malformations of genital organs
   Congenital malformations of the urinary system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
     H01771  Congenital ichthyosis
     H00134  X-linked ichthyosis [PATH:hsa00140]
     H00671  Netherton syndrome
     H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
     H00693  Ichthyosis bullosa of Siemens
     H00707  Ichthyosis hystrix, Curth-Macklin type
     H02265  Annular epidermolytic ichthyosis
     H00712  KID/HID syndrome
     H00733  Harlequin ichthyosis [PATH:hsa02010]
     H00734  Autosomal recessive congenital ichthyosis
     H02449  Autosomal dominant lamellar ichthyosis
     H00735  Ichthyosis vulgaris
     H00737  Peeling skin syndrome
     H00738  Ichthyosis with confetti
     H00739  Ichthyosis with hypotrichosis
     H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome [PATH:hsa04141]
     H00741  Ichthyosis prematurity syndrome
     H00742  Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome [PATH:hsa04514 hsa04530 hsa04670]
     H01737  Epidermolysis bullosa
     H00584  Epidermolysis bullosa simplex
     H00585  Epidermolysis bullosa, hemidesmosomal
     H00586  Epidermolysis bullosa, junctional [PATH:hsa04510 hsa04512 hsa04514 hsa04810]
     H00587  Epidermolysis bullosa, dysprophica
     H00763  Transient bullous dermolysis of the newborn
     H00425  Lysosomal cysteine protease deficiencies [PATH:hsa04142 hsa04620 hsa04612]
     H00274  Papillon-Lefevre syndrome [PATH:hsa04142]
     H00487  Tricho-dento-osseous syndrome
     H00646  Odontoonychodermal dysplasia [PATH:hsa04310 hsa04340 hsa04916 hsa05200]
     H00535  Lymphatic malformation [PATH:hsa04010 hsa04510 hsa04151 hsa04015]
     H00557  Cutis laxa
     H00558  Geroderma osteodysplasticum
     H00560  Pseudoxanthoma elasticum [PATH:hsa02010]
     H00638  Ectrodactyly-ectodermal dysplasia cleft-palate syndrome
     H00645  Incontinentia pigmenti [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662 hsa04920]
     H00644  Ectodermal dysplasia/skin fragility syndrome
     H00647  Ectodermal dysplasia-syndactyly syndrome [PATH:hsa04520]
     H00648  Ectodermal dysplasia, Clouston type
     H00649  Ectodermal dysplasia, hair-nail type
     H00651  Hypohidrotic ectodermal dysplasia [PATH:hsa04060]
     H02456  Ectodermal dysplasia
     H00663  Restrictive dermopathy [PATH:hsa00900]
     H00695  Mal de Meleda
     H00706  Bart-Pumphrey syndrome
     H00708  Naegeli-Franceschetti-Jadassohn syndrome [PATH:hsa04915]
     H00710  Erythrokeratodermia variabilis
     H00714  Vohwinkel syndrome
     H00715  Darier disease [PATH:hsa04020]
     H00716  Palmoplantar keratoderma with deafness
     H00717  Striate palmoplantar keratoderma
     H00722  Epidermolytic palmoplantar keratoderma
     H00723  Non-epidermolytic palmoplantar keratoderma
     H02263  Focal nonepidermolytic palmoplantar keratoderma
     H02264  Palmoplantar keratoderma, Nagashima type
     H02266  Palmoplantar keratoderma, Bothnian type
     H00750  Keratosis follicularis spinulosa decalvans
     H00755  Acrokeratosis verruciformis [PATH:hsa04020]
     H00781  Schopf-Schulz-Passarge syndrome
     H00790  Keratosis linearis with ichthyosis congenita and sclerosing keratoderma [PATH:hsa03050]
     H00791  Disseminated superficial actinic porokeratosis (DSAP)
     H00796  Dermatopathia pigmentosa reticularis
     H00799  CEDNIK syndrome [PATH:hsa04130]
     H00802  Ehlers-Danlos syndrome [PATH:hsa04510 hsa04512]
     H02241  Ehlers-Danlos syndrome cardiac valvular type [PATH:hsa04510 hsa04512 hsa04926]
     H02242  Ehlers-Danlos syndrome vascular type [PATH:hsa04926]
     H02243  Ehlers-Danlos syndrome arthrochalasia type [PATH:hsa04510 hsa04512 hsa04926]
     H02244  Ehlers-Danlos syndrome dermatospraxis type
     H02245  Ehlers-Danlos syndrome kyphoscoliosis type
     H02239  Ehlers-Danlos syndrome, spondylodysplastic type
     H02246  Ehlers-Danlos syndrome musculocontractural type [PATH:hsa00532]
     H02247  Ehlers-Danlos syndrome myopathic type
     H02240  Ehlers-Danlos syndrome periodontal type [PATH:hsa04610]
     H01902  Brittle cornea syndrome
     H00813  Laryngo onycho cutaneous syndrome [PATH:hsa04510 hsa04512]
     H00844  Familial benign chronic pemphigus
     H00893  Skin fragility-woolly hair syndrome
     H00949  Focal dermal hypoplasia [PATH:hsa04310]
     H01017  Choanal atresia and lymphedema
     H01404  Punctate palmoplantar keratoderma
     H01428  Xeroderma pigmentosum [PATH:hsa03420]
     H01579  Congenital symmetric circumferential skin creases
     H01933  Porokeratosis [PATH:hsa00900]
     H00667  Woolly hair [PATH:hsa04080]
     H00670  Monilethrix
     H00683  Anonychia congenita
     H00684  Pachyonychia congenita [PATH:hsa04915]
     H00858  Marie-Unna hereditary hypotrichosis
     H01896  Aplasia cutis congenita [PATH:hsa03008]
     H02083  Focal facial dermal dysplasia
     H02119  Proteus syndrome [PATH:hsa04151 hsa04150]
     H02167  Lymphedema-distichiasis syndrome
     H02168  Hypotrichosis-lymphedema-telangiectasia syndrome
     H02220  MEDNIK syndrome [PATH:hsa04142]
     H02295  Adermatoglyphia [PATH:hsa04550]
     H02296  Basan syndrome [PATH:hsa04550]
     H02417  Gingival fibromatosis with hypertrichosis [PATH:hsa02010]
     H02474  Blepharocheilodontic syndrome [PATH:hsa04520 hsa04015]
   Other congenital malformations
     H00417  Alstrom syndrome
     H00433  Holt-Oram syndrome
     H00442  Campomelic dysplasia
     H00443  Osteoglophonic dysplasia
     H00446  Craniofacial-deafness-hand syndrome
     H00449  Oculodentodigital dysplasia
     H00451  Osteoporosis-pseudoglioma syndrome [PATH:hsa04310]
     H00453  Branchio-oto-renal syndrome
     H00454  Oral-facial-digital syndrome
     H02160  Craniosynostoses
     H00458  Syndromic craniosynostoses
     H01753  Antley-Bixler syndrome
     H01754  Crouzon syndrome
     H01755  Apert syndrome
     H01756  Pfeiffer syndrome
     H01988  Jackson-Weiss syndrome
     H01989  Beare-Stevenson syndrome
     H01990  Muenke syndrome
     H01991  Saethre-Chotzen syndrome
     H01992  Craniofrontonasal syndrome
     H01993  Baller-Gerold syndrome
     H00464  Nail-patella syndrome
     H00485  Robinow syndrome [PATH:hsa04310]
     H00492  SHOX-related short stature
     H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) [PATH:hsa00100]
     H00500  Keutel syndrome
     H00502  Pallister-Hall syndrome [PATH:hsa04340]
     H00504  Rubinstein-Taybi syndrome
     H00509  3M syndrome [PATH:hsa04120]
     H00510  Feingold syndrome
     H00526  Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
     H00543  Renal-hepatic-pancreatic dysplasia
     H00571  Johanson-Blizzard syndrome
     H00574  Coffin-Lowry syndrome [PATH:hsa04010 hsa04114]
     H00581  Alport syndrome [PATH:hsa04510 hsa04512]
     H00597  Snyder-Robinson syndrome [PATH:hsa00270 hsa00330 hsa00410 hsa00480]
     H00617  Desmosterolosis [PATH:hsa00100 hsa01100]
     H00631  Cornelia de Lange syndrome [PATH:hsa04110 hsa04114]
     H00634  Duane-radial ray syndrome
     H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy [PATH:hsa04514]
     H00640  Limb-mammary syndrome
     H00641  ADULT syndrome
     H00665  Mandibuloacral dysplasia
     H00673  Weill-Marchesani syndrome
     H00675  Acrocapitofemoral dysplasia [PATH:hsa04340]
     H00682  Woodhouse-Sakati syndrome
     H00756  Pitt-Hopkins syndrome [PATH:hsa04514]
     H00757  Dyggve-Melchior-Clausen disease
     H00785  Congenital hypotrichosis with juvenile macular dystrophy [PATH:hsa04514]
     H00907  Kleefstra syndrome [PATH:hsa00310]
     H00908  Mowat-Wilson syndrome
     H00921  Revesz syndrome
     H00936  Goldberg-Shprintzen megacolon syndrome
     H00940  Cohen syndrome
     H00523  Noonan syndrome and related disorders [PATH:hsa04010]
     H01738  Noonan syndrome [PATH:hsa04014 hsa04010]
     H01984  Leopard syndrome [PATH:hsa04010 hsa04014 hsa04722]
     H01745  Cardiofaciocutaneous syndrome [PATH:hsa04010]
     H01747  Costello syndrome [PATH:hsa04014]
     H02190  CBL syndrome [PATH:hsa04012 hsa04144]
     H02191  Noonan-like syndrome with loose anagen hair [PATH:hsa04611]
     H02189  Neurofibromatosis-Noonan syndrome [PATH:hsa04014 hsa04010]
     H01437  Neurofibromatosis type 1 [PATH:hsa04010 hsa04014]
     H01438  Neurofibromatosis type 2 [PATH:hsa04390]
     H02188  Watson syndrome [PATH:hsa04014 hsa04010]
     H01986  Legius syndrome
     H00539  PTEN hamartoma tumor syndrome
     H01222  Cowden syndrome [PATH:hsa04932]
     H00559  von Hippel-Lindau syndrome [PATH:hsa04120 hsa05200 hsa05211]
     H00296  Defects in RecQ helicases [PATH:hsa03440]
     H01346  Bloom syndrome [PATH:hsa03440 hsa03460]
     H01734  Rothmund-Thomson syndrome
     H00403  Disorders of nucleotide excision repair [PATH:hsa03420]
     H01800  Verheij syndrome
     H00529  Cranioectodermal dysplasia
     H00569  Aarskog-Scott syndrome [PATH:hsa04810]
     H00583  Opitz-GBBB syndrome [PATH:hsa04120]
     H00555  Char syndrome
     H00556  CHARGE syndrome
     H00570  Kabuki syndrome [PATH:hsa00310]
     H00573  Townes-Brocks syndrome
     H00611  Popliteal pterygium syndrome (PPS)
     H00619  Kenny-Caffey syndrome
     H00632  Heterotaxy [PATH:hsa04350 hsa04060]
     H00622  Hypoparathyroidism-retardation-dysmorphism syndrome
     H00642  Lacrimo-auriculo-dento-digital syndrome [PATH:hsa04010 hsa04144 hsa04810]
     H00643  Tooth and nail syndrome
     H00709  Birk Barel mental retardation syndrome (BBMRS)
     H00711  Russell-Silver syndrome
     H00713  Beckwith-Wiedemann syndrome [PATH:hsa04110]
     H00718  Sotos syndrome [PATH:hsa00310]
     H01751  Weaver syndrome [PATH:hsa00310]
     H00653  Marfan syndrome
     H00659  Shprintzen-Goldberg syndrome
     H00661  MASS phenotype
     H00685  Bifid nose with or without anorectal and renal anomalies
     H00686  Manitoba oculotrichoanal syndrome
     H00687  Fraser syndrome
     H00727  Athabascan brainstem dysgenesis syndrome
     H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
     H00797  Martsolf syndrome
     H00811  Distal arthrogryposis [PATH:hsa04260 hsa04530]
     H00882  Cocoon syndrome [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04620 hsa04621 hsa04622 hsa04623 hsa04660 hsa04662 hsa04920]
     H00894  FG syndrome [PATH:hsa04010 hsa04510 hsa04530]
     H00859  Guttmacher syndrome
     H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
     H00868  Stapes ankylosis with broad thumb and toes [PATH:hsa04350]
     H00873  Cousin syndrome
     H00886  Donnai-Barrow syndrome [PATH:hsa04340]
     H00889  Lujan-Fryns syndrome [PATH:hsa04919]
     H00935  Cold-induced sweating syndrome [PATH:hsa04060 hsa04630]
     H00900  Geleophysic dysplasia
     H00914  Warsaw breakage syndrome
     H00915  Tuberous sclerosis complex [PATH:hsa04115 hsa04150 hsa04910]
     H00922  Schinzel-Giedion midface retraction syndrome
     H00934  Caudal duplication anomaly [PATH:hsa04310]
     H00926  Growth retardation, developmental delay, coarse facies, and early death
     H00939  Darsun syndrome
     H00943  TARP syndrome
     H00946  Arts syndrome [PATH:hsa00030 hsa00230 hsa01100]
     H00950  Arthrogryposis, renal dysfunction, and cholestasis
     H00965  RAPADILINO syndrome
     H00997  CATSHL syndrome [PATH:hsa04010 hsa04810]
     H00968  Raine syndrome
     H00969  Skeletal defects, genital hypoplasia, and mental retardation
     H00972  Endocrine-cerebro-osteodysplasia syndrome
     H00977  Trichorhinophalangeal syndrome
     H00980  Nevo syndrome [PATH:hsa00310]
     H00986  Multiple pterygium syndrome [PATH:hsa04080]
     H00987  Fetal akinesia deformation sequence
     H00992  Seckel syndrome [PATH:hsa03460 hsa04110 hsa04115]
     H00993  Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
     H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
     H01008  C syndrome
     H02047  Bohring-Opitz syndrome
     H01035  Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
     H01156  STAR syndrome
     H01192  Lysyl hydroxylase 3 deficiency [PATH:hsa00310 hsa00514]
     H01195  VACTERL/VATER association [PATH:hsa00562 hsa04070 hsa04115 hsa04510 hsa04530]
     H01215  Simpson-Golabi-Behmel syndrome
     H01220  Congenital cataracts, facial dysmorphism, and neuropathy
     H01255  Juvenile-onset dystonia [PATH:hsa04145 hsa04510 hsa04520 hsa04530 hsa04670 hsa04810]
     H01265  Hydrolethalus syndrome
     H01271  Hypoparathyroidism with sensorineural deafness and renal dysplasia
     H01281  Lathosterolosis [PATH:hsa00100]
     H01289  Mulibrey nanism [PATH:hsa04120]
     H01292  Nance-Horan syndrome
     H01308  Macrocephaly macrosomia facial dysmorphism syndrome
     H01370  SHORT syndrome [PATH:hsa04151]
     H01385  Rienhoff syndrome [PATH:hsa04010 hsa04068 hsa04110 hsa04350 hsa04390]
     H01403  Coffin-Siris syndrome [PATH:hsa04714]
     H01435  Congenital asplenia [PATH:hsa03010]
     H01764  Polysplenia syndrome
     H01497  Temtamy preaxial brachydactyly syndrome [PATH:hsa00532]
     H01412  Perlman syndrome
     H01413  Adams-Oliver syndrome [PATH:hsa04330 hsa04658]
     H01496  Spondyloocular syndrome [PATH:hsa00532 hsa00534]
     H01568  3C syndrome
     H01569  CHOPS syndrome
     H01573  Zimmermann-Laband syndrome
     H01752  ATR-X syndrome
     H01769  ZTTK syndrome
     H01776  Aicardi syndrome
     H01793  Young-Simpson syndrome
     H01794  Genitopatellar syndrome
     H01795  Blepharophimosis-mental retardation syndrome
     H01788  Klippel-Trenaunay-Weber syndrome
     H01797  Webb-Dattani syndrome
     H01806  Tenorio syndrome
     H01814  Stromme syndrome
     H01816  Frank-ter Haar syndrome
     H01834  Marshall-Smith syndrome
     H01838  Mandibulofacial dysostosis with microcephaly [PATH:hsa03040]
     H01839  Burn-McKeown syndrome [PATH:hsa03040]
     H01840  Moebius syndrome
     H01843  Cerebrocostomandibular syndrome [PATH:hsa03040]
     H01844  Diaphanospondylodysostosis
     H01845  Catel-Manzke syndrome
     H01847  Thrombocytopenia-absent radius syndrome
     H01850  Hartsfield syndrome
     H01857  Filippi syndrome
     H01872  Microcephaly-capillary malformation syndrome
     H01876  Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
     H01878  Al-Raqad syndrome [PATH:hsa03018]
     H01879  Wiedemann-Steiner syndrome [PATH:hsa03022]
     H01880  Autosomal recessive microcephaly and chorioretinopathy
     H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [PATH:hsa04150]
     H01886  Van den Ende-Gupta syndrome
     H01887  3MC syndrome [PATH:hsa04610]
     H01888  Carpenter syndrome
     H01889  Meier-Gorlin syndrome [PATH:hsa04110]
     H01893  Lateral meningocele syndrome [PATH:hsa04330]
     H01904  Microphthalmia with linear skin defects syndrome [PATH:hsa00190]
     H01908  Carey-Fineman-Ziter syndrome
     H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [PATH:hsa04150 hsa04151]
     H01913  Renpenning syndrome [PATH:hsa03040]
     H01914  Christianson syndrome
     H01915  Borjeson-Forssman-Lehmann syndrome
     H01916  Stocco dos Santos X-linked mental retardation syndrome
     H01917  CK syndrome [PATH:hsa00100]
     H01919  Proud syndrome
     H01922  Infantile hypotonia with psychomotor retardation and characteristic facies
     H01923  Microcephaly, short stature, and impaired glucose metabolism
     H01928  Smith-Kingsmore syndrome [PATH:hsa04150]
     H01930  Au-Kline syndrome
     H01931  Lethal-type popliteal pterygium syndrome
     H01932  Ablepharon-macrostomia syndrome
     H01934  Barber-Say syndrome
     H02023  Baraitser-Winter syndrome [PATH:hsa04810]
     H02046  OFC syndrome
     H02067  Boomerang dysplasia [PATH:hsa04010 hsa04510]
     H02072  Stickler syndrome [PATH:hsa04512 hsa04151 hsa04510]
     H02081  Marshall syndrome
     H02082  Floating-Harbor syndrome
     H02095  Perrault syndrome [PATH:hsa00970 hsa00120]
     H02102  Myhre syndrome [PATH:hsa04110 hsa04310 hsa04350]
     H02127  Yunis-Varon syndrome
     H02134  Microphthalmia with limb anomalies
     H02153  Megalencephaly-capillary malformation syndrome [PATH:hsa04150]
     H02169  Hennekam lymphangiectasia-lymphedema syndrome [PATH:hsa04392]
     H02180  McKusick-Kaufman syndrome
     H02195  MEHMO syndrome [PATH:hsa03013]
     H02198  Pancreatic agenesis and congenital heart disease
     H02218  DOORS syndrome
     H02219  DDOD syndrome [PATH:hsa04150 hsa04721]
     H02224  Grange syndrome
     H02226  Cardiospondylocarpofacial syndrome
     H02229  Terminal osseous dysplasia
     H02232  CAGSSS syndrome [PATH:hsa00970]
     H02233  Alazami syndrome
     H02234  Hamamy syndrome
     H02248  MEND syndrome [PATH:hsa00100]
     H02249  Primrose syndrome
     H02253  Beaulieu-Boycott-Innes syndrome [PATH:hsa03013]
     H02254  Craniosynostosis and dental anomalies [PATH:hsa04630 hsa04060]
     H02255  FDLAB syndrome
     H02260  Chondrodysplasia Chassaing-Lacombe type
     H02267  Wilson-Turner syndrome
     H02271  Cerebellofaciodental syndrome
     H02274  Cerebellar atrophy, visual impairment, and psychomotor retardation
     H02280  Complex lethal osteochondrodysplasia
     H02283  IVIC syndrome
     H02294  Tatton-Brown-Rahman syndrome [PATH:hsa00270]
     H02297  CLAPO syndrome [PATH:hsa04150 hsa04151]
     H02298  Macrocephaly, dysmorphic facies, and psychomotor retardation [PATH:hsa04120]
     H02303  Alopecia-mental retardation syndrome
     H02324  Sacral agenesis with vertebral anomalies
     H02325  Schaaf-Yang syndrome
     H02327  KBG syndrome
     H02328  Sifrim-Hitz-Weiss syndrome
     H02334  Pierpont syndrome
     H02337  Skraban-Deardorff syndrome
     H02346  Intellectual developmental disorder with short stature, facial anomalies, and speech defects [PATH:hsa04710]
     H02347  Thauvin-Robinet-Faivre syndrome
     H02363  Ververi-Brady syndrome
     H02364  Heart and brain malformation syndrome
     H02365  Helsmoortel-van der Aa syndrome
     H02368  Developmental delay with short stature, dysmorphic facial features, and sparse hair
     H02369  IMAGE-I syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02370  FILS syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02376  Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
     H02378  Hypotonia, ataxia, and delayed development syndrome
     H02381  Cleft palate, psychomotor retardation, and distinctive facial features [PATH:hsa04714]
     H02382  Bainbridge-Ropers syndrome
     H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
     H02391  Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
     H02394  Cleft palate, cardiac defects, and mental retardation
     H02422  Retinitis pigmentosa with skeletal anomalies
     H02435  Deafness-infertility syndrome
     H02437  Growth retardation, impaired intellectual development, hypotonia, and hepatopathy [PATH:hsa00970]
     H02465  Weiss-Kruszka syndrome
     H02477  Cohen-Gibson syndrome
     H02478  CATIFA syndrome
     H02479  Nivelon-Nivelon-Mabille syndrome
     H02480  Fontaine progeroid syndrome
     H02481  Syndromic disorder with short stature
     H02482  ROSAH syndrome
     H02483  Basel-Vanagait-Smirin-Yosef syndrome
     H02488  Cardiac-urogenital syndrome
     H02492  Microcephaly, growth restriction, and increased sister chromatid exchange [PATH:hsa03440 hsa03460]
     H02493  Al Kaissi syndrome
     H02496  Cerebellar, ocular, craniofacial, and genital syndrome
     H02500  Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
 Other congenital disorders
 Other diseases

Last updated: February 25, 2021

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