Cancers
|
|
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
|
Diabetes
|
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
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Other congenital disorders
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Other diseases
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