 Cancers
|
Head and neck cancers
|
 H02420 Head and neck cancer
H00016 Oral cancer
H01508 Salivary gland cancer [PATH:hsa04330]
H01509 Tonsillar cancer [PATH:hsa04110]
H01559 Oropharyngeal cancer
H00054 Nasopharyngeal cancer [PATH:hsa05203 hsa05169]
H00055 Laryngeal cancer
------ Hypopharyngeal cancer
|
Cancers of the digestive system
|
H00017 Esophageal cancer [PATH:hsa05206]
H00018 Gastric cancer [PATH:hsa05226]
H00034 Carcinoid [PATH:hsa05202]
H00020 Colorectal cancer [PATH:hsa05210 hsa05206 hsa00512]
H00044 Cancer of the anal canal [PATH:hsa05203]
H00048 Hepatocellular carcinoma [PATH:hsa05225 hsa05203 hsa05161 hsa05160 hsa05206]
H02302 Hepatoblastoma [PATH:hsa04310]
H01557 Hepatic angiosarcoma
H00046 Cholangiocarcinoma
H00047 Gallbladder cancer
H00019 Pancreatic cancer [PATH:hsa05212]
H00045 Pancreatic neuroendocrine tumor
H01591 Gastrotintestinal stromal tumor
|
Cancers of the lung and pleura
|
H00014 Non-small cell lung cancer [PATH:hsa05223 hsa05206]
H00013 Small cell lung cancer [PATH:hsa05222 hsa05206]
H00015 Malignant pleural mesothelioma
|
Skin cancers
|
H00038 Melanoma [PATH:hsa05218]
H00039 Basal cell carcinoma [PATH:hsa05217]
H00040 Squamous cell carcinoma
H01555 Merkel cell carcinoma
H01463 Mycosis fungoides
|
Cancers of soft tissues and bone
|
H00036 Osteosarcoma
H00035 Ewing sarcoma [PATH:hsa05202]
H00053 Extraskeletal myxoid chondrosarcoma [PATH:hsa05202]
H00041 Kaposi sarcoma [PATH:hsa05167 hsa05203]
H00049 Myxoid liposarcoma [PATH:hsa05202]
H00037 Rhabdomyosarcoma [PATH:hsa05202]
H00050 Synovial sarcoma [PATH:hsa05202]
H00051 Alveolar soft part sarcoma [PATH:hsa05202]
H00052 Clear cell sarcoma of soft tissue [PATH:hsa05202]
H01985 Desmoplastic small round cell tumor [PATH:hsa05202]
------ Fibrosarcoma
------ Malignant fibrous histiocytoma (MFH)
------ Leiomyosarcoma
H01666 Angiosarcoma
------ Chondrosarcoma
------ Epithelioid sarcoma
H01665 Primary peritoneal carcinoma
|
Cancers of the breast and female genital organs
|
H00031 Breast cancer [PATH:hsa05224 hsa05206]
H00029 Vulvar cancer
H00030 Cervical cancer [PATH:hsa05165 hsa05203]
H00026 Endometrial cancer [PATH:hsa05213]
H00027 Ovarian cancer [PATH:hsa05206]
H01554 Fallopian tube cancer
H00028 Choriocarcinoma
|
Cancers of male genital organs
|
H00025 Penile cancer [PATH:hsa05203]
H00024 Prostate cancer [PATH:hsa05215 hsa05202 hsa05206]
H00023 Testicular cancer
|
Cancers of the urinary system
|
H00021 Renal cell carcinoma [PATH:hsa05211 hsa05202]
H02301 Nephroblastoma
H00022 Bladder cancer [PATH:hsa05219 hsa05206]
|
Cancers of eye, brain, and central nervous system
|
H01513 Retinoblastoma [PATH:hsa04110]
H00042 Glioma [PATH:hsa05214 hsa05206]
H01667 Medulloblastoma [PATH:hsa04310 hsa04340]
H00043 Neuroblastoma [PATH:hsa05202]
------ Schwannoma
H01556 Meningioma
|
Cancers of endocrine organs
|
H00032 Thyroid cancer [PATH:hsa05216 hsa05202]
H01592 Medullary thyroid cancer
H00033 Adrenal carcinoma
H01510 Malignant paraganglioma [PATH:hsa04066]
H01558 Parathyroid carcinoma
H00247 Multiple endocrine neoplasia syndrome
|
Cancers of haematopoietic and lymphoid tissues
|
H00007 Hodgkin lymphoma [PATH:hsa05202 hsa05203 hsa05169]
H02418 Non-Hodgkin lymphoma
H01613 Follicular lymphoma
H02424 Primary central nervous system lymphoma [PATH:hsa04662]
H02434 Diffuse large B-cell lymphoma, not otherwise specified [PATH:hsa04151 hsa04210 hsa04662 hsa04064]
H01464 Mantle cell lymphoma
H00001 B-cell acute lymphoblastic leukemia [PATH:hsa05202]
H00002 T-cell acute lymphoblastic leukemia [PATH:hsa05202]
H00008 Burkitt lymphoma [PATH:hsa05203 hsa05169]
H00011 Lymphoplasmacytic lymphoma [PATH:hsa05202]
H01463 Mycosis fungoides
H01892 Peripheral T cell lymphoma
H01601 Anaplastic large-cell lymphoma
H00010 Multiple myeloma [PATH:hsa05202]
H00005 Chronic lymphocytic leukemia
H00006 Hairy cell leukemia [PATH:hsa05202]
H00009 Adult T-cell leukemia [PATH:hsa05166 hsa05203]
H00003 Acute myeloid leukemia [PATH:hsa05221 hsa05202]
H00004 Chronic myeloid leukemia [PATH:hsa05220]
H02410 Myelodysplastic/myeloproliferative neoplasms [PATH:hsa04014]
H02411 Chronic myelomonocytic leukemia [PATH:hsa04014]
H02412 Atypical chronic myeloid leukemia [PATH:hsa04014]
H01511 Mast-cell leukemia [PATH:hsa04151]
H01605 Myelofibrosis [PATH:hsa04630]
H01512 Langerhans cell histiocytosis [PATH:hsa04010]
H02425 Erdheim-Chester disease [PATH:hsa04010]
H01590 Chronic eosinophilic leukemia
H01599 Hypereosinophilic syndrome
H00012 Polycythemia vera
H01612 Essential thrombocytosis
|
Cancer category
|
H02421 Solid tumor
H02427 Soft tissue sarcomas
|
|
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
|
Neurodegenerative diseases
|
H00056 Alzheimer disease [PATH:hsa05010]
H00066 Lewy body dementia (LBD)
H00057 Parkinson disease [PATH:hsa05012]
H01600 Parkinsonian syndrome
H00058 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014]
H00059 Huntington disease [PATH:hsa05016]
H01243 Huntington disease-like syndrome
H00060 Dentatorubropallidoluysian atrophy (DRPLA)
H00062 Spinal and bulbar muscular atrophy (SBMA)
H00063 Spinocerebellar ataxia (SCA) [PATH:hsa05017 hsa04730 hsa03008]
H01478 Machado-Joseph disease [PATH:hsa05017 hsa04141]
H01038 Cerebellar ataxia cayman type
H01170 Autosomal recessive spastic ataxia of Charlevoix-Saguenay
H01891 Autosomal recessive spinocerebellar ataxias
H00061 Prion disease [PATH:hsa05020]
H00064 Ataxia telangiectasia [PATH:hsa03440 hsa04110 hsa04218]
H02014 Ataxia-telangiectasia-like syndrome [PATH:hsa03410 hsa03420 hsa03440]
H00065 Alexander disease
H00075 Refsum disease [PATH:hsa04146]
H00067 Friedreich ataxia
H00068 Leber hereditary optic atrophy [PATH:hsa00190]
H00076 Cockayne syndrome [PATH:hsa03420]
H00077 Progressive supranuclear palsy
H00078 Frontotemporal lobar degeneration [PATH:hsa04010 hsa04141 hsa04144 hsa04310 hsa04330 hsa04722]
H02342 Frontotemporal dementia and amyotrophic lateral sclerosis
H00074 Canavan disease [PATH:hsa00250]
H00264 Charcot-Marie-Tooth disease [PATH:hsa00970]
H00455 Spinal muscular atrophy [PATH:hsa03013]
H00655 McLeod syndrome
H00833 Neurodegeneration with brain iron accumulation [PATH:hsa00770]
H02206 Aceruloplasminemia [PATH:hsa04216 hsa00860]
H02207 Kufor-Rakeb syndrome
H02208 Pantothenate kinase-associated neurodegeneration [PATH:hsa00770]
H02209 HARP syndrome [PATH:hsa00770]
H00841 Infantile progressive bulbar palsy
H00816 Agenesis of the corpus callosum with peripheral neuropathy
H00879 Perry syndrome
H00845 Familial amyloidosis
H02322 Amyloidosis, Finnish type
H00897 Pontocerebellar hypoplasia [PATH:hsa00970 hsa03015 hsa03018]
H00970 Juvenile primary lateral sclerosis
H01115 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
H01172 Infantile ascending hereditary spastic paralysis
H01177 Infantile bilateral striatal necrosis [PATH:hsa03013 hsa00190]
H01184 Familial dementia
H01185 Cerebral amyloid angiopathy [PATH:hsa04726]
H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
H01212 Familial encephalopathy with neuroserpin inclusion bodies
H01259 Giant axonal neuropathy
H01284 Marinesco-Sjogren syndrome [PATH:hsa04141]
H01295 Neurodegeneration due to cerebral folate transport deficiency [PATH:hsa04144]
H01432 Choreoacanthocytosis
H01578 Subacute myelo-optico-neuropathy (SMON)
H01614 Multiple system atrophy [PATH:hsa00130]
H01616 Spinocerebellar degeneration
H01696 Subacute sclerosing panencephalitis
H01779 Neuroferritinopathy
H01807 Hereditary diffuse leukoencephalopathy with spheroids
H01898 PNPLA6-related disorders [PATH:hsa00564]
H01903 Brown-Vialetto-Van Laere syndrome [PATH:hsa04977]
H01036 Posterior column ataxia with retinitis pigmentosa
H00749 Episodic ataxias [PATH:hsa04010 hsa04020 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730]
H00832 Core neuroacanthocytosis syndromes [PATH:hsa00770]
H00848 Ataxia with ocular apraxia
H00856 Distal hereditary motor neuropathies
H00869 Leukoencephalopathy with vanishing white matter [PATH:hsa03013]
H02200 Leukoencephalopathy, progressive, with ovarian failure
H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [PATH:hsa00970]
H00874 Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146]
H02377 Leukodystrophy and acquired microcephaly with or without dystonia
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts
H00878 Cystic leukoencephalopathy without megalencephaly
H02457 Developmental delay, leukoencephalopathy, and neurologic decompensation [PATH:hsa04141]
H00999 Coenzyme Q10 deficiency [PATH:hsa00130 hsa00900]
H01570 Autosomal dominant striatal degeneration [PATH:hsa00230]
H01574 Familial idiopathic basal ganglia calcification
H02144 Gordon Holmes syndrome
H02252 PEHO syndrome
H02338 PEHO-like syndrome
H02261 PEBAT
H02262 PEBEL
H02273 Nonprogressive cerebellar ataxia with mental retardation
H02293 Spastic paraplegia-psychomotor retardation-seizures syndrome
H02473 Leukoencephalopathy, brain calcifications, and cysts
H02476 Childhood-onset neurodegeneration with brain atrophy
|
Epilepsy
|
H00577 Symptomatic generalized epilepsies
H00606 Early infantile epileptic encephalopathy [PATH:hsa04723 hsa04727 hsa04724 hsa04728 hsa04726]
H01460 West syndrome [PATH:hsa00601]
H01813 Lennox-Gastaut syndrome
H01818 Dravet syndrome [PATH:hsa04728]
H02353 Hyperekplexia and epilepsy
H01819 Early myoclonic encephalopathy
H01823 Myoclonic-astatic epilepsy
H02361 Myoclonic-atonic epilepsy [PATH:hsa04727]
H01815 Malignant migrating partial seizures in infancy
H00783 Febrile seizures [PATH:hsa04728 hsa04080 hsa04727]
H00806 Benign familial neonatal seizure [PATH:hsa04725]
H02362 Benign familial infantile seizure
H00807 Nocturnal frontal lobe epilepsy [PATH:hsa04080 hsa04725]
H00808 Idiopathic generalized epilepsies [PATH:hsa04727 hsa04010]
H02215 Childhood absence epilepsy [PATH:hsa04727]
H02216 Juvenile absence epilepsy
H02217 Juvenile myoclonic epilepsy
H02212 Familial infantile myoclonic epilepsy
H02213 Familial adult myoclonic epilepsy
H02214 Familial focal epilepsy with variable foci [PATH:hsa04150]
H00809 Familial epilepsy temporal lobe (ETL)
H00810 Progressive myoclonic epilepsy
H01994 Lafora disease
H01995 Unverricht-Lundborg disease
H00996 Amish infantile epilepsy syndrome [PATH:hsa00604]
H01124 Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency [PATH:hsa00750]
H01247 Pyridoxine-dependent epilepsy [PATH:hsa00310]
H01258 Generalized epilepsy and paroxysmal dyskinesia [PATH:hsa04270]
H01514 Landau-Kleffner syndrome
H01775 PCDH19-related epilepsy syndrome
H01808 Hemiconvulsion-hemiplegia-epilepsy syndrome
H01822 Epilepsy with myoclonic absence
H01826 Mesial temporal lobe epilepsy with hippocampal sclerosis
H01827 Rolandic epilepsy, mental retardation, and speech dyspraxia [PATH:hsa04724]
H01829 Acute encephalitis with refractory repetitive partial seizures
H02058 Kohlschutter-Tonz syndrome
H02150 Infantile or early childhood epileptic encephalopathy
H02250 Early-onset vitamin B6-dependent epilepsy
H02360 Epileptic encephalopathy, childhood-onset
H02472 Early-onset progressive encephalopathy
|
Eye disease
|
H00527 Retinitis pigmentosa [PATH:hsa04744 hsa00830 hsa03040 hsa00900]
H00589 Familial exudative vitreoretinopathy [PATH:hsa04310]
H00612 Primary open angle glaucoma [PATH:hsa03008]
H00633 Duane retraction syndrome
H00690 Aland Island eye disease
H00726 Meesmann corneal dystrophy
H00732 Sorsby fundus dystrophy
H00776 Congenital motor nystagmus (CMN)
H00779 Usher syndrome (US)
H00787 Congenital stationary night blindness [PATH:hsa04744 hsa04010 hsa04020 hsa04080 hsa04724]
H00789 Keratoconus
H00805 Vitreoretinal degeneration [PATH:hsa04510 hsa04512 hsa04514]
H02073 Wagner syndrome [PATH:hsa04514]
H02075 Enhanced S-cone syndrome
H02341 Goldmann-Favre syndrome
H02077 Snowflake vitreoretinal degeneration
H02078 Autosomal dominant vitreoretinochoroidopathy
H00821 Age-related macular degeneration [PATH:hsa04610]
H01770 Macular dystrophy
H00481 Cone-rod dystrophy and cone dystrophy [PATH:hsa04744 hsa00230]
H00814 Vitelliform macular dystrophy
H00819 Stargardt disease [PATH:hsa02010 hsa00062 hsa01040]
H01010 Occult macular dystrophy
H01768 Central areolar choroidal dystrophy
H01890 Pattern dystrophies of the retinal pigment epithelium
H01009 Newfoundland rod-cone dystrophy
H00825 Familial flecked retina syndrome [PATH:hsa00830 hsa04744]
H02440 Fleck retina, familial benign [PATH:hsa00591 hsa00592 hsa00590]
H00837 Leber congenital amaurosis [PATH:hsa00230 hsa00830 hsa04744]
H00838 Congenital fibrosis of the extraocular muscles [PATH:hsa04145 hsa04540]
H00951 Reis-Bucklers corneal dystrophy
H00952 Thiel-Behnke dystrophies
H00953 Gelatinous drop-like corneal dystrophy
H00954 Macular corneal dystrophy [PATH:hsa00533]
H00955 Granular corneal dystrophies
H00956 Lattice corneal dystrophies
H00957 Fleck corneal dystrophy [PATH:hsa00562 hsa04070 hsa04145 hsa04810]
H00958 Congenital stromal corneal dystrophy [PATH:hsa04350]
H00959 Schnyder corneal dystrophy
H00960 Fuchs corneal dystrophy
H00961 Posterior polymorphous corneal dystrophy
H00963 Congenital hereditary endothelial dystrophy
H01149 Ring dermoid of cornea [PATH:hsa04350]
H01221 Epithelial basement membrane corneal dystrophy
H00971 Achromatopsia [PATH:hsa04744]
H00973 Bradyopsia [PATH:hsa04744]
H00974 Blue cone monochromacy
H00976 Colorblindness
H01015 Jalili syndrome
H01020 Optic atrophy
H01088 Pigmented paravenous chorioretinal atrophy
H01180 Sveinsson chorioretinal atrophy (SCRA) [PATH:hsa04390]
H01116 Choroideremia
H01118 Progressive external ophthalmoplegia
H01130 Late-onset retinal degeneration
H01202 Cataract [PATH:hsa04141]
H01256 Foveal hypoplasia
H01273 Autosomal dominant keratitis
H01378 Bosch-Boonstra optic atrophy syndrome
H01480 Idiopathic macular hole
H01641 Dry eye desease
H01644 Blepharitis
H01651 Macular edema
H01717 Optic neuritis
H01719 Optic neuropathy
H01798 Autosomal dominant neovascular inflammatory vitreoretinopathy
H02041 Myopia
H02104 Megalocornea
H02107 Bietti crystalline corneoretinal dystrophy
H02108 Basal laminar drusen [PATH:hsa04610]
H02110 Doyne honeycomb retinal dystrophy
H02112 Persistent hyperplastic primary vitreous
H02113 Infantile cerebellar-retinal degeneration [PATH:hsa00020 hsa00630]
H02114 Spastic paraplegia, optic atrophy, and neuropathy
H02135 Cone-rod dystrophy and hearing loss
H02204 Hereditary hyperferritinaemia-cataract syndrome
H02469 Cone-rod synaptic disorder
H02475 Retinoschisis
H01457 Diabetic retinopathy [PATH:hsa04933 hsa04066 hsa04614]
|
Ear disease
|
H01920 Partington syndrome
H00604 Deafness, autosomal dominant
H00605 Deafness, autosomal recessive
H01209 Deafness, X-linked
H02336 Deafness, Y-linked
H01704 Sudden sensorineural hearing loss
H01705 Bilateral sudden sensorineural hearing loss
H01706 Delayed endolymphatic hydrops
H01495 Meniere disease
H02339 Auditory neuropathy
|
Other nervous and sensory system diseases
|
H02359 Dejerine-Sottas disease
H02344 Cowchock syndrome [PATH:hsa04210 hsa04217]
H00265 Hereditary sensory and autonomic neuropathy [PATH:hsa00600 hsa04144 hsa04145 hsa04010 hsa04210 hsa04722]
H00266 Hereditary spastic paraplegia [PATH:hsa04144 hsa04142]
H00524 Scapuloperoneal spinal muscular atrophy
H00688 Familial advanced sleep phase syndrome [PATH:hsa04710]
H00689 Delayed sleep phase syndrome [PATH:hsa00380 hsa04710]
H00916 Congenital central hypoventilation syndrome [PATH:hsa04010 hsa04722]
H00770 Congenital myasthenic syndrome [PATH:hsa04080 hsa00564 hsa04725 hsa04512 hsa00520]
H00772 Paroxysmal extreme pain disorder
H00769 Hyperekplexia [PATH:hsa04080 hsa04721]
H00774 Congenital insensitivity to pain
H00775 Hemiplegic migraine [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730]
H00803 Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
H00831 Primary dystonia [PATH:hsa00350 hsa00790 hsa04260 hsa04728 hsa04976 hsa04920]
H00836 GLUT1 deficiency syndrome [PATH:hsa04976 hsa04920]
H00840 Band-like calcification with simplified gyration and polymicrogyria [PATH:hsa04514 hsa04530 hsa04670]
H00860 Benign hereditary chorea [PATH:hsa04918]
H00989 Mohr-Tranebjaerg syndrome
H00998 Alternating hemiplegia of childhood [PATH:hsa04960 hsa04961 hsa04964]
H01000 Retinal vasculopathy with cerebral leukodystrophy [PATH:hsa04623]
H01005 Dopamine beta-hydroxylase deficiency [PATH:hsa00350]
H01007 Choroid plexus papilloma [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa04722 hsa05200]
H01097 Spastic quadriplegic cerebral palsy [PATH:hsa04727]
H01131 Hereditary neuralgic amyotrophy
H01155 Roussy-Levy syndrome [PATH:hsa04514 hsa04146]
H01161 Aromatic L-amino acid decarboxylase deficiency [PATH:hsa00350 hsa00380 hsa04726 hsa04728]
H01201 Jensen syndrome
H01287 Congenital mirror movements [PATH:hsa04360 hsa03440]
H01293 Narcolepsy
H01296 Hereditary neuropathy with liability to pressure palsies
H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [PATH:hsa04530]
H00798 Familial carpal tunnel syndrome
H01812 Rasmussen encephalitis [PATH:hsa04660]
H01436 Guillain-Barre syndrome
H01689 Fisher syndrome
H01490 Multiple sclerosis [PATH:hsa04514]
H01491 Neuromyelitis optica
H01504 Vogt-Koyanagi-Harada syndrome
H01506 Hepatic encephalopathy
H01527 Chronic inflammatory demyelinating polyradiculoneuropathy
H01528 Neuroleptic malignant syndrome
H01565 Wernicke encephalopathy [PATH:hsa04977]
H01577 Essential tremor
H01588 Cluster headache
H01594 Myasthenia gravis
H01596 Lambert-Eaton myasthenic syndrome
H01597 Restless legs syndrome
H01608 Cervical dystonia
H01609 Insomnia
H01638 Neuropathic pain
H01668 Neoplastic meningitis
H01724 HTLV1-associated myelopathy [PATH:hsa05166]
H01676 Normal pressure hydrocephalus
H01692 Subependymal giant cell astrocytoma [PATH:hsa04150]
H01836 Congenital pain insensitivity with anhidrosis [PATH:hsa04722]
H01837 Congenital suprabulbar paresis
H01841 Acute encephalopathy with biphasic seizures and late reduced diffusion
H01842 Bickerstaff brainstem encephalitis
H01846 Superficial siderosis
H01924 Sydenham chorea
H01987 Familial dysautonomia
H02101 Autosomal dominant sensory ataxia
H02137 Laurence-Moon syndrome [PATH:hsa00564]
H02140 Boucher-Neuhauser syndrome [PATH:hsa00564]
H02174 Sudden infant death with dysgenesis of the testes syndrome
H02251 Coats plus syndrome
H02345 Autosomal recessive peripheral neuropathy (PNRIID)
H02357 Congenital hypomyelinating neuropathy
H02366 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
H02367 Chorea, childhood-onset, with psychomotor retardation
H02388 Infantile-onset limb and orofacial dyskinesia [PATH:hsa00230 hsa04024]
H02389 Familial dyskinesia with facial myokymia [PATH:hsa04024 hsa04724 hsa04725]
H02390 Autosomal recessive neuromyotonia and axonal neuropathy
H02430 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus [PATH:hsa04141]
H02450 Horizontal gaze palsy with progressive scoliosis
H02489 Mild encephalopathy with reversible myelin vacuolization
H01459 Diabetic neuropathy [PATH:hsa04933]
|
|
Cardiovascular diseases
|
Cardiac diseases
|
H00292 Hypertrophic cardiomyopathy [PATH:hsa05410]
H00293 Arrhythmogenic right ventricular cardiomyopathy [PATH:hsa05412]
H00294 Dilated cardiomyopathy [PATH:hsa05414]
H01219 Restrictive cardiomyopathy [PATH:hsa04260]
H02498 Diabetic cardiomyopathy [PATH:hsa05415]
H00295 Viral myocarditis [PATH:hsa05416]
H01216 Left ventricular noncompaction [PATH:hsa04260]
H00546 Atrial septal defect
H00547 Atrioventricular septal defect
H00549 Tetralogy of Fallot [PATH:hsa04330]
H00550 Complete transposition of the great arteries
H01786 Congenitally corrected transposition of the great arteries
H00553 Congenital supravalvar aortic stenosis
H00555 Char syndrome
H00654 Barth syndrome [PATH:hsa00564]
H00669 Naxos disease [PATH:hsa05412]
H02094 Carvajal syndrome
H00720 Long QT syndrome [PATH:hsa04261 hsa04921]
H00725 Short QT syndrome
H02091 Jervell and Lange-Nielsen syndrome [PATH:hsa04261]
H00728 Brugada syndrome [PATH:hsa04010 hsa04020 hsa04260 hsa04270 hsa05410 hsa05412 hsa05414]
H00729 Sick sinus syndrome
H00730 Familial idiopathic ventricular fibrillation
H00731 Atrial fibrillation [PATH:hsa04270 hsa04261]
H00918 Double-outlet right ventricle
H00939 Darsun syndrome
H01019 Catecholaminergic polymorphic ventricular tachycardia [PATH:hsa04020 hsa04261 hsa04260]
H01154 Wolff-Parkinson-White (WPW) syndrome [PATH:hsa04910 hsa04920 hsa05410]
H01263 Progressive cardiac conduction defect (PCCD)
H01632 Angina pectoris
H01729 Premature ventricular complexes
H01730 Myocardial infarction
H01736 Persistent truncus arteriosus
H01783 Ebstein anomaly
H01785 Tricuspid atresia
H01787 Univentricular heart
H01802 Pulmonary atresia with intact ventricular septum
H01803 Pulmonary atresia with ventricular septal defect
H01868 Mitral valve prolapse
H01926 Ventricular septal defect
H02122 Chronic atrial and intestinal dysrhythmia [PATH:hsa04114]
H02125 Cardiac conduction disease with dilated cardiomyopathy
H02269 Familial ventricular tachycardia
|
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
|
H00602 Glucocorticoid-remediable aldosteronism (GRA) [PATH:hsa00140]
H00259 Apparent mineralocorticoid excess syndrome [PATH:hsa00140]
H00242 Liddle syndrome [PATH:hsa04960]
H00258 Aldosterone synthase deficiency [PATH:hsa00140]
H00603 Hypertension exacerbated in pregnancy [PATH:hsa04960]
H01619 Primary pulmonary hypertension [PATH:hsa04350]
H01621 Pulmonary arterial hypertension [PATH:hsa04350]
H01622 Chronic thromboembolic pulmonary hypertension
H01631 Acute heart failure
H01633 High blood pressure
|
|
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
|
H00892 Bronchiectasis with or without elevated sweat chloride [PATH:hsa04960]
H01713 Diffuse panbronchiolitis
H01715 Obesity hypoventilation syndrome
H01873 Obliterative bronchiolitis
H00564 Primary ciliary dyskinesia
|
|
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
|
H00250 Congenital nongoitrous hypothyroidism (CHNG) [PATH:hsa04918 hsa04919]
H00251 Thyroid dyshormonogenesis [PATH:hsa00350 hsa04918]
H00249 Thyroid hormone resistance syndrome [PATH:hsa04080 hsa04919]
H00650 Allan-Herndon-Dudley syndrome
H00913 Brain-lung-thyroid syndrome
H01040 Bamforth-Lazarus syndrome
H01186 Abnormal thyroid hormone metabolism
H01269 Congenital hyperthyroidism
H01645 Hyperthyroidism
H01647 Subacute thyroiditis
H02034 Central hypothyroidism and testicular enlargement
|
Parathyroid diseases
|
H00244 Pseudohypoparathyroidism [PATH:hsa04130]
H00246 Primary hyperparathyroidism
H01669 Secondary hyperparathyroidism
H02030 Neonatal hyperparathyroidism
H01862 Hypoparathyroidism
|
Adrenal gland diseases
|
H00216 Congenital adrenal hyperplasia [PATH:hsa00140]
H00602 Glucocorticoid-remediable aldosteronism (GRA) [PATH:hsa00140]
H01603 Primary aldosteronism [PATH:hsa04020]
H00260 Pigmented micronodular adrenocortical disease
H01598 Addison disease
H01772 Adrenal hypoplasia, congenital
H01111 Cortisone reductase deficiency [PATH:hsa00030 hsa00140 hsa00980]
H01163 Corticosteroid-binding globulin (CBG) deficiency
H00256 Familial glucocorticoid deficiency
H00257 Achalasia Addisonianism Alacrima syndrome
H01431 Cushing syndrome [PATH:hsa04934]
H01702 Glucocorticoid resistance syndrome [PATH:hsa04080]
H02049 Bilateral macronodular adrenal hyperplasia [PATH:hsa04934]
H02314 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete [PATH:hsa00140]
H02316 Adrenal insufficiency, NR5A1 related [PATH:hsa04927]
H02315 Disordered steroidogenesis due to cytochrome P450 oxidoreductase
H02319 IMAGE syndrome
|
Gonadal diseases
|
H00794 Aromatase excess syndrome [PATH:hsa00140]
H02020 Aromatase deficiency [PATH:hsa00140 hsa04913]
H02019 Familial male-limited precocious puberty [PATH:hsa04020 hsa04917]
H02027 Male hypogonadism
H02061 Estrogen resistance syndrome [PATH:hsa01522 hsa04917 hsa04915]
|
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
|
H00432 Hereditary dentine disorders
H00497 Cherubism [PATH:hsa04650]
H00615 Amelogenesis imperfecta
H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism
H00625 Tooth agenesis [PATH:hsa04310]
H00680 Primary failure of tooth eruption [PATH:hsa04080 hsa04961]
H00652 Solitary median maxillary central incisor syndrome [PATH:hsa04340]
H00857 Oligodontia-colorectal cancer syndrome [PATH:hsa04310 hsa05200 hsa05210]
H00872 Trismus-pseudocamptodactyly syndrome [PATH:hsa04530]
H01250 Hereditary gingival fibromatosis [PATH:hsa04010]
H02050 Prepubertal periodontitis [PATH:hsa04142]
H02348 Dentin dysplasia
|
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
H02504 Gastrointestinal ulceration, recurrent, with dysfunctional platelets [PATH:hsa00590]
|
Liver diseases
|
H00624 Progressive familial intrahepatic cholestasis [PATH:hsa04976 hsa04979 hsa04530]
H02192 Benign recurrent intrahepatic cholestasis [PATH:hsa04976 hsa04979]
H02193 Intrahepatic cholestasis of pregnancy [PATH:hsa04976]
H02194 North American Indian childhood cirrhosis [PATH:hsa03008]
H00628 Congenital bile acid synthesis defect [PATH:hsa00120 hsa00140 hsa04146]
H01133 Reynolds syndrome
H01213 Gallbladder disease [PATH:hsa02010 hsa04975 hsa04976]
H01264 Hepatic venoocclusive disease with immunodeficiency
H01333 Nonalcoholic fatty liver disease [PATH:hsa04932 hsa00561]
H01467 Primary biliary cirrhosis
H01506 Hepatic encephalopathy
H01679 Intrahepatic lithiasis
H01684 Primary sclerosing cholangitis
H01685 Autoimmune hepatitis
H01686 Idiopathic portal hypertension
H01687 Extrahepatic portal vein obstruction
H01712 Fulminant hepatic failure
H02225 Familial cirrhosis
|
Pancreas diseases
|
H00861 Pancreatic agenesis
H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [PATH:hsa00190 hsa01100]
H00932 Tropical calcific pancreatitis [PATH:hsa04142 hsa04612]
H00933 Hereditary pancreatitis [PATH:hsa04972 hsa04974 hsa04971 hsa04976]
H01680 Chronic pancreatitis
H01681 Acute pancreatitis
|
|
Urinary system diseases
|
Kidney diseases
|
H02310 Renal tubular acidosis [PATH:hsa04964 hsa04966 hsa04960]
H00428 Distal renal tubular acidosis (RTA type 1) [PATH:hsa04966]
H00429 Proximal renal tubular acidosis (RTA type 2) [PATH:hsa04964]
H00241 Combined proximal and distal renal tubular acidosis [PATH:hsa04964 hsa04966]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) [PATH:hsa04960]
H00252 Congenital nephrogenic diabetes insipidus [PATH:hsa04962]
H00541 Autosomal dominant tubulointerstitial kidney disease [PATH:hsa04614]
H00576 Pierson syndrome [PATH:hsa04510 hsa04512]
H00582 Benign familial hematuria [PATH:hsa04510 hsa04512]
H01657 Nephrotic syndrome
H00626 Focal segmental glomerulosclerosis
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic
H00928 Nephropathy with pretibial epidermolysis bullosa and deafness
H00948 Renal hypouricemia
H01037 Vesicoureteral reflux [PATH:hsa04310]
H01260 Glomerulopathy with fibronectin deposits [PATH:hsa04510 hsa04512 hsa04810]
H01304 Hyperglycinuria [PATH:hsa04974 hsa04978]
H01500 Lupus nephritis
H01581 IgA nephropathy
H01456 Diabetic nephropathy [PATH:hsa04933 hsa04614 hsa04068 hsa04211]
H01642 Renal anemia
H01688 Rapidly progressive glomerulonephritis
H01691 Renal angiomyolipoma [PATH:hsa04150]
H01726 Membranoproliferative glomerulonephritis [PATH:hsa04610]
H01767 Henoch-Schonlein purpura nephritis
H02011 Familial juvenile hyperuricemic nephropathy [PATH:hsa04614]
H02145 Calcium oxalate nephrolithiasis
H02149 X-linked hypercalciuric nephrolithiasis
H00694 Dent disease [PATH:hsa00562 hsa04070]
H02142 X-linked recessive hypophosphatemic rickets
H02147 X-linked recessive nephrolithiasis with renal failure
H02148 Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
|
Urinary bladder diseases
|
H00753 Urofacial syndrome [PATH:hsa00531 hsa01100]
H01551 Interstitial cystitis
|
|
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
|
H00430 Fibrodysplasia ossificans progressiva [PATH:hsa04350]
H00431 Ossification of the posterior longitudinal ligament of spine [PATH:hsa04350]
H00437 Paget disease of bone [PATH:hsa04380]
H00441 Progressive osseous heteroplasia [PATH:hsa04020]
H00448 Familial osteochondritis dissecans
H00457 Primary hypertrophic osteoarthropathy
H00472 Torg syndrome
H00490 Diaphyseal dysplasia with anemia [PATH:hsa00590]
H00498 Gnathodiaphyseal dysplasia
H00613 Infantile cortical hyperostosis
H00623 Hajdu-Cheney syndrome [PATH:hsa04330]
H01470 Giant cell tumor of bone
H01526 Legg-Calve-Perthes Disease [PATH:hsa04510 hsa04512]
H01529 Avascular necrosis of femoral head [PATH:hsa04066 hsa04370]
H01576 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
H01593 Osteoporosis [PATH:hsa04380 hsa04978 hsa04961 hsa04933]
H01674 Ankylosing spondylitis [PATH:hsa04612]
H01707 Ossified ligamentum flavum
H01708 Diffuse idiopathic skeletal hyperostosis
H01709 Glucocorticoid-induced osteonecrosis [PATH:hsa00140 hsa04066]
H01711 Spinal stenosis
H01774 Hyperostosis corticalis generalisata [PATH:hsa04310]
H01865 Multicentric carpotarsal osteolysis syndrome
H00888 Nephrolithiasis/osteoporosis, hypophosphatemic
H02042 Familial expansile osteolysis [PATH:hsa04064 hsa04380]
H02062 Familial digital arthropathy-brachydactyly
H02395 Calvarial doughnut lesions with bone fragility [PATH:hsa00600 hsa04071]
|
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
|
H00614 Hyaline fibromatosis syndrome
H01236 Familial articular chondrocalcinosis
H01391 Familial episodic pain syndrome [PATH:hsa04750]
H01507 Seronegative arthritis
H01532 Gout [PATH:hsa00230]
H01604 Polymyositis and dermatomyositis
H01606 Polymyalgia rheumatica
H01636 Fibromyalgia
H01693 Eosinophilic fasciitis
H02089 Winchester syndrome
H02238 Spinal muscular atrophy with congenital bone fractures
H02268 Wieacker-Wolff syndrome
|
|
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 disorders of carbohydrate metabolism
|
H00071 Hereditary fructose intolerance [PATH:hsa00010]
H00114 Fructose-1,6-bisphosphatase deficiency [PATH:hsa00010]
H00072 Pyruvate dehydrogenase complex deficiency [PATH:hsa00620 hsa00010]
H01997 Pyruvate dehydrogenase E1-alpha deficiency [PATH:hsa00010 hsa00620]
H01998 Pyruvate dehydrogenase E1-beta deficiency [PATH:hsa00010 hsa00620]
H01999 Pyruvate dehydrogenase E2 deficiency [PATH:hsa00010 hsa00620]
H02000 Dihydrolipoamide dehydrogenase deficiency [PATH:hsa00010 hsa00020 hsa00280 hsa00620]
H02003 Pyruvate dehydrogenase E3-binding protein deficiency
H01996 Pyruvate dehydrogenase phosphatase deficiency
H00073 Pyruvate carboxylase deficiency [PATH:hsa00620 hsa00020]
H00070 Galactosemia [PATH:hsa00052 hsa00520]
H02008 Galactose-1P uridylyltransferase deficiency [PATH:hsa00052]
H02009 Galactokinase deficiency [PATH:hsa00052]
H02010 Galactose epimerase deficiency [PATH:hsa00052]
H00116 Congenital lactase deficiency [PATH:hsa00052]
H00069 Glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910]
H01760 Hepatic glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910]
H01762 Muscle glycogen storage disease [PATH:hsa00010 hsa00500 hsa04910 hsa04922 hsa04142]
H01939 Glycogen storage disease type I [PATH:hsa00010 hsa04973]
H01940 Glycogen storage disease type II [PATH:hsa00052 hsa04142]
H01941 Glycogen storage disease type III [PATH:hsa00500]
H01942 Glycogen storage disease type IV [PATH:hsa00500]
H01943 Glycogen storage disease type V [PATH:hsa00500 hsa04910]
H01944 Glycogen storage disease type VI [PATH:hsa00500 hsa04910 hsa04922]
H01945 Glycogen storage disease type VII [PATH:hsa00010]
H01948 Glycogen storage disease type IX [PATH:hsa04910 hsa04922]
H01951 Glycogen storage disease type X [PATH:hsa00010 hsa00260 hsa04922]
H01946 Glycogen storage disease type XI [PATH:hsa00010 hsa00620]
H01952 Glycogen storage disease type XII [PATH:hsa00010 hsa00030 hsa00051]
H01953 Glycogen storage disease type XIII [PATH:hsa00010]
H01954 Glycogen storage disease type XIV [PATH:hsa00010 hsa00500 hsa00520]
H01955 Glycogen storage disease type XV [PATH:hsa00500]
H01950 Glycogen storage disease type 0a [PATH:hsa00500 hsa04910]
H01949 Glycogen storage disease type 0b [PATH:hsa00500 hsa04910]
H01956 Glycogen storage disease of heart [PATH:hsa04152 hsa04910 hsa04922]
H01947 Fanconi-Bickel syndrome [PATH:hsa04911 hsa04973]
H00115 Congenital sucrase-isomaltase deficiency [PATH:hsa00500]
H00117 Primary hyperoxaluria [PATH:hsa00260 hsa00630]
H01071 Acute alcohol sensitivity [PATH:hsa00010]
H01261 Congenital glucose-galactose malabsorption [PATH:hsa04973]
H02090 Trehalase deficiency [PATH:hsa00500]
H02439 Short stature, developmental delay, congenital heart defect [PATH:hsa00030]
H02451 Congenital disorder of glycosylation with defective fucosylation [PATH:hsa00051 hsa00510]
|
Congenital disorders of lipid/glycolipid metabolism
|
H00149 Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142]
H02275 Batten disease [PATH:hsa04142]
H02276 Kufs disease [PATH:hsa04141 hsa04142]
H02277 Santavuori-Haltia disease [PATH:hsa01212 hsa00062 hsa04142]
H02278 Jansky-Bielschowsky disease
H02279 Cathepsin D deficiency [PATH:hsa04142 hsa04210 hsa04140]
H00407 Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00120 hsa01040 hsa03320 hsa04146]
H00176 Adrenoleukodystrophy [PATH:hsa02010 hsa04146]
H00152 Sitosterolemia [PATH:hsa02010]
H00153 Familial combined hyperlipidemia
H00151 Cerebrotendinous xanthomatosis [PATH:hsa00120 hsa03320]
H00155 Familial hypercholesterolemia [PATH:hsa04976 hsa04144]
H00154 Hyperlipoproteinemia, type I [PATH:hsa00561 hsa03320]
H01383 Hyperlipoproteinemia type IIa [PATH:hsa04144 hsa04913 hsa04976]
H00156 Hyperlipoproteinemia, type III
H00157 Hyperlipoproteinemia, type V [PATH:hsa03320]
H01637 Hypertriglyceridemia
H00158 Lecithin:cholesterol acyltransferase deficiency [PATH:hsa00564]
H00159 Tangier disease [PATH:hsa02010]
H00160 Abetalipoproteinemia
H00161 Smith-Lemli-Opitz syndrome [PATH:hsa00100]
H00162 Sjogren-Larsson syndrome [PATH:hsa00071]
H00736 Dorfman-Chanarin syndrome [PATH:hsa04923]
H00148 Lysosomal acid lipase deficiency [PATH:hsa00100 hsa04142]
H00134 X-linked ichthyosis [PATH:hsa00140]
H00125 Fabry disease [PATH:hsa00600 hsa00603 hsa04142]
H00126 Gaucher disease [PATH:hsa00511 hsa00600 hsa04142]
H00135 Krabbe disease [PATH:hsa00600 hsa04142]
H00137 Niemann-Pick disease type A/B [PATH:hsa00600 hsa04142]
H00138 Farber lipogranulomatosis [PATH:hsa00600 hsa04142]
H00127 Metachromatic leukodystrophy [PATH:hsa00600 hsa04142]
H00272 Multiple sulfatase deficiency [PATH:hsa04142]
H00281 GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142]
H00124 GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142]
H02016 Tay-Sachs disease [PATH:hsa00531 hsa00511]
H02017 Sandhoff disease [PATH:hsa00531 hsa00511]
H00144 Mucolipidosis IV [PATH:hsa04142]
H00146 Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142]
H00206 Mevalonate kinase deficiency [PATH:hsa00900]
H00525 Disorders of mitochondrial fatty-acid oxidation [PATH:hsa00071]
H01980 SCAD deficiency [PATH:hsa00071 hsa01212]
H00488 MCAD deficiency [PATH:hsa00071 hsa01212]
H00489 LCHAD deficiency
H00392 VLCAD deficiency [PATH:hsa00071 hsa01212]
H00375 SBCAD deficiency [PATH:hsa00071 hsa00280 hsa01212]
H01981 Carnitine palmitoyltransferase I deficiency [PATH:hsa00071 hsa01212]
H01982 Carnitine palmitoyltransferase II deficiency [PATH:hsa00071 hsa01212]
H01983 Carnitine-acylcarnitine translocase deficiency
H00438 Nasu-Hakola disease [PATH:hsa04380]
H00552 Chromosome Xp21 deletion syndrome
H02013 Glycerol kinase deficiency [PATH:hsa00561 hsa03320]
H00601 Hutchinson-Gilford progeria syndrome
H00679 Hypomyelinating leukodystrophy
H00869 Leukoencephalopathy with vanishing white matter [PATH:hsa03013]
H02200 Leukoencephalopathy, progressive, with ovarian failure
H00871 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation [PATH:hsa00970]
H00874 Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146]
H00875 Megaloencephalic leukoencephalopathy with subcortical cysts
H00878 Cystic leukoencephalopathy without megalencephaly
H00883 Lipoid proteinosis
H00887 Lipoprotein glomerulopathy
H00927 Chylomicron retention disease [PATH:hsa04141]
H00930 Hypoalphalipoproteinemia [PATH:hsa02010 hsa03320 hsa04975 hsa04977]
H01065 Pentosuria [PATH:hsa00040]
H01101 Combined lipase deficiency
H01126 Familial renal glucosuria
H01489 Inherited glycosylphosphatidylinositol deficiencies [PATH:hsa00563]
H01127 PIGM-congenital disorder of glycosylation [PATH:hsa00563]
H01485 Autosomal recessive mental retardation-42 [PATH:hsa00563]
H01486 Multiple congenital anomalies-hypotonia-seizures syndrome [PATH:hsa00563]
H01487 CHIME syndrome [PATH:hsa00563]
H01488 Hyperphosphatasia with mental retardation syndrome [PATH:hsa00563]
H01189 Transaldolase deficiency [PATH:hsa00030]
H01199 Hyperalphalipoproteinemia [PATH:hsa03320]
H01290 Acute recurrent myoglobinuria [PATH:hsa00561 hsa00564]
H01297 Neutral lipid storage disease with myopathy [PATH:hsa04923]
H01589 Systemic primary carnitine deficiency
H01661 Xanthoma
H01784 Primary hyperchylomicronemia
H01918 Familial autosomal recessive hypercholesterolemia [PATH:hsa04144]
H02284 Leukotriene C4 synthase deficiency [PATH:hsa00590]
H02329 Hepatic lipase deficiency [PATH:hsa04979 hsa00561]
H02330 Pancreatic lipase deficiency [PATH:hsa04977 hsa04972 hsa00561 hsa04975]
H02432 Butyrylcholinesterase deficiency
H02468 Early childhood-onset progressive leukodystrophy [PATH:hsa00600]
|
Congenital disorders of glycan/glycoprotein metabolism
|
H00118 Congenital disorders of glycosylation type I [PATH:hsa00510 hsa00051 hsa04141]
H00119 Congenital disorders of glycosylation type II [PATH:hsa00510]
H00128 Mucopolysaccharidosis type I [PATH:hsa00531 hsa04142]
H00129 Mucopolysaccharidosis type II [PATH:hsa00531 hsa04142]
H00130 Mucopolysaccharidosis type III [PATH:hsa00531 hsa04142]
H00123 Mucopolysaccharidosis type IV [PATH:hsa00531 hsa04142]
H00131 Mucopolysaccharidosis type VI [PATH:hsa00531 hsa04142]
H00132 Mucopolysaccharidosis type VII [PATH:hsa00531 hsa04142]
H00133 Mucopolysaccharidosis type IX [PATH:hsa00531 hsa04142]
H02205 Mucopolysaccharidosis-plus syndrome
H00143 Mucolipidosis II [PATH:hsa04142]
H00139 alpha-Mannosidosis [PATH:hsa00511 hsa04142]
H00140 beta-Mannosidosis [PATH:hsa00511 hsa04142]
H00141 Fucosidosis [PATH:hsa00511 hsa04142]
H00142 Sialidosis [PATH:hsa00511 hsa00600 hsa04142]
H00276 Galactosialidosis [PATH:hsa04142]
H00145 Aspartylglucosaminuria [PATH:hsa00511 hsa04142]
H00120 Muscular dystrophy-dystroglycanopathy type A [PATH:hsa00515]
H01960 Muscular dystrophy-dystroglycanopathy type B [PATH:hsa00515]
H01961 Congenital muscular dystrophy type 1C [PATH:hsa00515]
H00122 Multiple exostoses [PATH:hsa00534]
H00147 Sialuria [PATH:hsa04142 hsa00520]
H00692 Lowe syndrome [PATH:hsa00562 hsa04070]
H00996 Amish infantile epilepsy syndrome [PATH:hsa00604]
H01188 Tn syndrome [PATH:hsa00512]
H01497 Temtamy preaxial brachydactyly syndrome [PATH:hsa00532]
H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects [PATH:hsa00532 hsa00534]
|
Congenital disorders of amino acid metabolism
|
H00167 Phenylketonuria [PATH:hsa00400 hsa00790]
H00165 Tyrosinemia [PATH:hsa00350 hsa00360]
H00163 Alkaptonuria [PATH:hsa00350]
H00166 Hermansky-Pudlak syndrome [PATH:hsa04142]
H00168 Oculocutaneous albinism [PATH:hsa00350 hsa04916]
H00169 Ocular albinism [PATH:hsa04916]
H00170 Piebaldism [PATH:hsa04916 hsa04520]
H00171 Histidinemia [PATH:hsa00340]
H00172 Maple syrup urine disease [PATH:hsa00280]
H00173 Isovaleric acidemia [PATH:hsa00280]
H00181 3-Methylcrotonylglycinuria [PATH:hsa00280]
H00175 Propionic acidemia [PATH:hsa00280 hsa00640]
H00174 Methylmalonic aciduria [PATH:hsa00280]
H00179 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency [PATH:hsa00280 hsa00650]
H00275 Cystinosis [PATH:hsa04142]
H00182 Cystathioninuria [PATH:hsa00260 hsa00270]
H00183 Homocystinuria [PATH:hsa00260 hsa00270 hsa00450 hsa00670]
H00184 Hypermethioninemia [PATH:hsa00270 hsa00450 hsa00260 hsa00230]
H00164 Carbamoyl phosphate synthetase I deficiency [PATH:hsa00220 hsa00250 hsa00910]
H00185 Citrullinemia [PATH:hsa00220 hsa00250]
H00186 Hyperargininemia [PATH:hsa00220 hsa00330]
H00178 Glutaric acidemia [PATH:hsa00071 hsa00380 hsa00310]
H00188 Hyperlysinemia [PATH:hsa00300 hsa00310]
H00187 Ornithine transcarbamylase deficiency [PATH:hsa00220]
H00189 Ornithinaemia [PATH:hsa00330]
H00190 Hyperprolinemia [PATH:hsa00330]
H00191 Nonketotic hyperglycinemia [PATH:hsa00260]
H00074 Canavan disease [PATH:hsa00250]
H00548 Brunner syndrome [PATH:hsa00340 hsa00350 hsa00380 hsa04728]
H00754 3-Methylglutaconic aciduria [PATH:hsa00280]
H00834 Guanidinoacetate methyltransferase deficiency [PATH:hsa00260 hsa00330]
H00835 Succinic semialdehyde dehydrogenase deficiency [PATH:hsa00250 hsa00650]
H00849 Cerebral creatine deficiency syndrome [PATH:hsa00260 hsa00330]
H00899 Lysinuric protein intolerance [PATH:hsa04974]
H00901 Cystinuria [PATH:hsa04974]
H00905 Iminoglycinuria [PATH:hsa04974 hsa04978]
H00911 Dicarboxylic aminoaciduria [PATH:hsa04974 hsa04724]
H00923 Congenital systemic glutamine deficiency [PATH:hsa00250 hsa00220 hsa00910 hsa04724 hsa04727]
H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency [PATH:hsa00280]
H01003 Dimethylglycine dehydrogenase deficiency [PATH:hsa00260]
H01028 Argininosuccinic aciduria [PATH:hsa00220 hsa00250]
H01032 N-acetylglutamate synthase deficiency [PATH:hsa00220]
H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency [PATH:hsa00260]
H01082 Phosphoserine aminotransferase deficiency [PATH:hsa00260 hsa00750]
H01076 Alpha-methylacetoacetic aciduria [PATH:hsa00280 hsa00072]
H01119 Prolidase deficiency
H01121 Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency [PATH:hsa00072 hsa00280 hsa00650]
H01123 HMG-CoA synthase deficiency [PATH:hsa00072 hsa00280 hsa00650 hsa00900]
H01146 Aminoacylase 1 deficiency [PATH:hsa00220]
H01187 Tietz syndrome [PATH:hsa04380 hsa04916]
H01198 Fanconi renotubular syndrome
H01225 D-2-hydroxyglutaric aciduria [PATH:hsa00020 hsa00480]
H02304 Combined D-2- and L-2-hydroxyglutaric aciduria
H01233 Urocanase deficiency [PATH:hsa00340]
H01237 Sulfite oxidase deficiency [PATH:hsa00920]
H01242 Saccharopinuria [PATH:hsa00310]
H01257 GABA-transaminase deficiency [PATH:hsa00250]
H01262 Formiminotransferase deficiency [PATH:hsa00340 hsa00670]
H01279 Isobutyryl-CoA dehydrogenase deficiency [PATH:hsa00280]
H01280 L-2-hydroxyglutaric aciduria [PATH:hsa00650]
H01283 Malonyl-CoA decarboxylase deficiency [PATH:hsa00410 hsa00640 hsa04146]
H01285 Methylcobalamin deficiency type G [PATH:hsa00270 hsa00450 hsa00670]
H00668 Anemia due to disorders of glutathione metabolism [PATH:hsa00480 hsa00030]
H01375 Glucose 6-phosphate dehydrogenase deficiency [PATH:hsa00480 hsa00030]
H00843 Hartnup disorder [PATH:hsa04974 hsa04978]
H01386 Asparagine synthetase deficiency [PATH:hsa00250]
H01398 Primary hyperammonemic disorders (Urea cycle disorders) [PATH:hsa00220]
H01400 Secondary hyperammonemia [PATH:hsa00280 hsa00071]
H01583 Hydroxykynureninuria [PATH:hsa00380]
H02087 Vertebral, cardiac, renal, and limb defects syndrome [PATH:hsa00380]
H02109 Combined malonic and methylmalonic aciduria [PATH:hsa00280 hsa00061]
H02116 Phosphoserine phosphatase deficiency [PATH:hsa00260]
H02117 Neu-Laxova syndrome [PATH:hsa00260 hsa00750]
H02136 Branched-chain ketoacid dehydrogenase kinase deficiency
H02196 X-linked creatine deficiency syndrome
H02285 Methylmalonate semialdehyde dehydrogenase deficiency [PATH:hsa00280 hsa00410 hsa00640]
H02311 Molybdenum cofactor deficiency [PATH:hsa00790]
H02313 5-Oxoprolinase deficiency [PATH:hsa00480]
H02380 D-glyceric aciduria [PATH:hsa00030 hsa00260 hsa00630 hsa00561]
H02419 Glycine encephalopathy with normal serum glycine [PATH:hsa04721]
|
Congenital disorders of nucleotide metabolism
|
H00194 Lesch-Nyhan syndrome [PATH:hsa00230]
H00195 Adenine phosphoribosyltransferase deficiency [PATH:hsa00230]
H00197 Adenylosuccinate lyase deficiency [PATH:hsa00230 hsa00250]
H00192 Xanthinuria [PATH:hsa00230 hsa04122]
H00196 Phosphoribosylpyrophosphate synthetase superactivity [PATH:hsa00030 hsa00230]
H00198 Orotic aciduria [PATH:hsa00240]
H00193 Dihydropyrimidine dehydrogenase deficiency [PATH:hsa00240 hsa00983]
H00199 Dihydropyrimidinase deficiency [PATH:hsa00240 hsa00983]
H00200 Beta-ureidopropionase deficiency [PATH:hsa00240 hsa00983]
H00964 Thiopurine S-methyltransferase deficiency (TPMT deficiency) [PATH:hsa00983]
H00966 AICA-ribosiduria [PATH:hsa00230 hsa00670]
H01135 Ribose 5-phosphate isomerase deficiency [PATH:hsa00030]
H02237 AMP deaminase deficiency [PATH:hsa00230]
H02433 Hypomyelination with brainstem and spinal cord involvement and leg spasticity [PATH:hsa00970]
|
Congenital disorders of cofactor/vitamin metabolism
|
H00180 Holocarboxylase synthetase deficiency [PATH:hsa00780]
H01763 Porphyria [PATH:hsa00860]
H00201 Erythropoietic porphyria [PATH:hsa00860]
H00202 Hepatic porphyria [PATH:hsa00860]
H00208 Hyperbilirubinemia [PATH:hsa00860 hsa02010 hsa04976]
H02054 Crigler-Najjar syndrome [PATH:hsa00860]
H02055 Gilbert syndrome [PATH:hsa00860]
H02056 Dubin-Johnson syndrome [PATH:hsa02010 hsa04976]
H02057 Rotor syndrome [PATH:hsa04976]
H00213 Hypophosphatasia [PATH:hsa00790]
H00981 Ataxia with isolated vitamin E deficiency (AVED)
H01143 Vitamin D-dependent rickets [PATH:hsa00100 hsa04961 hsa04978]
H01197 Dihydrofolate reductase deficiency [PATH:hsa00670 hsa00790]
H01182 Biotinidase deficiency [PATH:hsa00780 hsa04977]
H01567 Thiamine pyrophosphokinase deficiency [PATH:hsa00730]
H02221 Methylmalonic aciduria and homocystinuria [PATH:hsa04977]
H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type
|
Congenital disorders of ion transport and metabolism
|
H00218 Cystic fibrosis [PATH:hsa02010]
H00209 Menkes syndrome
H00210 Wilson disease
H00212 Acrodermatitis enteropathica
H00211 Hemochromatosis
H00217 Pulmonary alveolar proteinosis
H00214 Hypophosphatemic rickets
H02138 Hereditary hypophophatemic rickets with hypercalciuria [PATH:hsa04928]
H02139 Autosomal recessive hypophosphatemic rickets
H02141 Autosomal dominant hypophosphatemic rickets
H02142 X-linked recessive hypophosphatemic rickets
H02143 X-linked dominant hypophosphatemic rickets
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]
H01190 Transcobalamin II deficiency [PATH:hsa04977]
H01302 Hyperchlorhidrosis isolated (HCHLH)
H01859 Occipital horn syndrome
H01935 Familial hypercholanemia [PATH:hsa04976]
H02026 Familial hypocalciuric hypercalcemia [PATH:hsa04020 hsa04961]
H02340 Absorptive hypercalciuria [PATH:hsa04371 hsa04024]
|
Lysosomal storage diseases
|
H01425 Lysosomal storage disease [PATH:hsa04142]
H00149 Neuronal ceroid lipofuscinosis [PATH:hsa00062 hsa04142]
H00125 Fabry disease [PATH:hsa00600 hsa00603 hsa04142]
H00421 Mucopolysaccharidosis [PATH:hsa00531 hsa04142]
H00128 Mucopolysaccharidosis type I [PATH:hsa00531 hsa04142]
H00129 Mucopolysaccharidosis type II [PATH:hsa00531 hsa04142]
H00130 Mucopolysaccharidosis type III [PATH:hsa00531 hsa04142]
H00123 Mucopolysaccharidosis type IV [PATH:hsa00531 hsa04142]
H00131 Mucopolysaccharidosis type VI [PATH:hsa00531 hsa04142]
H00132 Mucopolysaccharidosis type VII [PATH:hsa00531 hsa04142]
H00133 Mucopolysaccharidosis type IX [PATH:hsa00531 hsa04142]
H00422 Glycoproteinoses [PATH:hsa00511 hsa04142 hsa00603]
H00142 Sialidosis [PATH:hsa00511 hsa00600 hsa04142]
H00276 Galactosialidosis [PATH:hsa04142]
H00139 alpha-Mannosidosis [PATH:hsa00511 hsa04142]
H00140 beta-Mannosidosis [PATH:hsa00511 hsa04142]
H00145 Aspartylglucosaminuria [PATH:hsa00511 hsa04142]
H00141 Fucosidosis [PATH:hsa00511 hsa04142]
H00146 Alpha-N-acetylgalactosaminidase deficiency [PATH:hsa00603 hsa04142]
H00423 Sphingolipidosis [PATH:hsa00600 hsa04142]
H00127 Metachromatic leukodystrophy [PATH:hsa00600 hsa04142]
H00135 Krabbe disease [PATH:hsa00600 hsa04142]
H00424 Defects in the degradation of sphingomyelin [PATH:hsa00600 hsa04142]
H00137 Niemann-Pick disease type A/B [PATH:hsa00600 hsa04142]
H00138 Farber lipogranulomatosis [PATH:hsa00600 hsa04142]
H00425 Lysosomal cysteine protease deficiencies [PATH:hsa04142 hsa04620 hsa04612]
H00274 Papillon-Lefevre syndrome [PATH:hsa04142]
H00273 Pycnodysostosis [PATH:hsa04142 hsa04620]
H00426 Gangliosidosis [PATH:hsa00511 hsa00604 hsa00531 hsa00600 hsa04142]
H00281 GM1 gangliosidosis [PATH:hsa00511 hsa00531 hsa00600 hsa00604 hsa04142]
H00124 GM2 gangliosidoses [PATH:hsa00511 hsa00531 hsa00603 hsa00604 hsa04142]
H02016 Tay-Sachs disease [PATH:hsa00531 hsa00511]
H02017 Sandhoff disease [PATH:hsa00531 hsa00511]
H00126 Gaucher disease [PATH:hsa00511 hsa00600 hsa04142]
H00136 Niemann-Pick disease type C [PATH:hsa04142]
H00143 Mucolipidosis II [PATH:hsa04142]
H02130 Mucolipidosis III [PATH:hsa04142]
H00144 Mucolipidosis IV [PATH:hsa04142]
H00148 Lysosomal acid lipase deficiency [PATH:hsa00100 hsa04142]
H00150 Danon disease [PATH:hsa04142]
H00275 Cystinosis [PATH:hsa04142]
H00147 Sialuria [PATH:hsa04142 hsa00520]
H01113 Acid phosphatase deficiency [PATH:hsa00740 hsa04142]
H01239 Combined SAP deficiency [PATH:hsa04142]
H02128 Defects in lysosomal trafficking
|
Peroxisomal diseases
|
H00205 Peroxisome biogenesis disorder [PATH:hsa04146]
H01342 Zellweger syndrome [PATH:hsa04146]
H00177 Neonatal adrenoleukodystrophy [PATH:hsa04146]
H00204 Infantile Refsum disease
H00075 Refsum disease [PATH:hsa04146]
H00207 Rhizomelic chondrodysplasia punctata [PATH:hsa00564 hsa00565 hsa04146]
H00407 Peroxisomal beta-oxidation enzyme deficiency [PATH:hsa00120 hsa01040 hsa03320 hsa04146]
H02096 Peroxisomal acyl-CoA oxidase deficiency [PATH:hsa00071 hsa01040 hsa03320 hsa04146]
H02098 D-bifunctional protein deficiency [PATH:hsa00120 hsa01040 hsa04146]
H00176 Adrenoleukodystrophy [PATH:hsa02010 hsa04146]
H00203 Acatalasemia [PATH:hsa00380 hsa00680 hsa04146]
H02099 Alpha-methylacyl-CoA racemase deficiency [PATH:hsa04146 hsa00120]
H02100 Peroxisomal fatty acyl-CoA reductase 1 disorder [PATH:hsa04146]
|
Mitochondrial diseases
|
H01427 Mitochondrial disease
H00473 Mitochondrial complex I deficiency [PATH:hsa00190]
H02005 Mitochondrial complex II deficiency [PATH:hsa00020 hsa00190]
H02086 Mitochondrial complex III deficiency [PATH:hsa04260 hsa00190]
H01368 Cytochrome c oxidase (COX) deficiency [PATH:hsa00190 hsa00860 hsa04260]
H00891 Combined oxidative phosphorylation deficiency
H01369 ATP synthase deficiency [PATH:hsa00190]
H00469 Mitochondrial DNA depletion syndrome [PATH:hsa00240 hsa00230 hsa00020]
H00898 Myopathy with lactic acidosis and sideroblastic anaemia [PATH:hsa00970]
H01305 Global cerebral hypomyelination
H01347 MELAS Syndrome [PATH:hsa00970 hsa00190]
H01354 Leigh syndrome [PATH:hsa00190]
H01355 Kearns-Sayre syndrome [PATH:hsa00190 hsa04260]
H00068 Leber hereditary optic atrophy [PATH:hsa00190]
H01365 Leber hereditary optic neuropathy and dystonia [PATH:hsa00190]
H01118 Progressive external ophthalmoplegia
H01348 Mitochondrial phosphate carrier deficiency
H01349 Methacrylic aciduria [PATH:hsa00280]
H01351 Spastic ataxia [PATH:hsa00970]
H01352 Mitochondrial trifunctional protein deficiency [PATH:hsa00071 hsa01212]
H01356 Myoclonic Epilepsy and Ragged-Red Fiber Disease [PATH:hsa00970 hsa00190]
H01363 NARP syndrome [PATH:hsa00190]
H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency [PATH:hsa00062 hsa00071 hsa00280 hsa00310 hsa00380 hsa00650]
H01123 HMG-CoA synthase deficiency [PATH:hsa00072 hsa00280 hsa00650 hsa00900]
H01367 Infantile liver failure [PATH:hsa00970 hsa04122]
H01381 Antithrombin III deficiency [PATH:hsa04610]
H01383 Hyperlipoproteinemia type IIa [PATH:hsa04144 hsa04913 hsa04976]
H01384 Mitochondrial recessive ataxia syndrome
H01389 Alpers syndrome
H01390 Mitochondrial neurogastrointestinal encephalomyopathy [PATH:hsa00240]
H01200 Fatal infantile cardioencephalomyopathy [PATH:hsa00190]
H01395 Autosomal recessive progressive external ophthalmoplegia
H01894 Multiple mitochondrial dysfunctions syndrome
H01900 Encephalopathy due to defective mitochondrial and peroxisomal fission [PATH:hsa04217 hsa04621 hsa04668]
H01022 Diseases of the tricarboxylic acid cycle [PATH:hsa00020]
H02004 Fumarase deficiency [PATH:hsa00020]
H02006 Alpha-ketoglutarate dehydrogenase complex deficiency [PATH:hsa00020]
H02007 GRACILE syndrome
H01929 2,4-Dienoyl-CoA reductase deficiency [PATH:hsa00760]
H02085 Acyl-CoA dehydrogenase 9 deficiency
H00989 Mohr-Tranebjaerg syndrome
H00820 Bjornstad syndrome
H02197 Mitochondrial pyruvate carrier deficiency
H02201 Mitochondrial myopathy with lactic acidosis
H02438 Hyperglycinemia, lactic acidosis, and seizures [PATH:hsa00785]
H02441 HUPRA syndrome [PATH:hsa00970]
H02447 Myopathy with extrapyramidal signs
H02448 Harel-Yoon syndrome
|
Other congenital disorders of metabolism
|
H00418 Bardet-Biedl syndrome
H00419 Congenital generalized lipodystrophy
H00420 Familial partial lipodystrophy [PATH:hsa03320 hsa04910 hsa04371 hsa04923]
H00759 Waardenburg syndrome [PATH:hsa04916 hsa04520 hsa04020 hsa04080 hsa04916]
H00967 Adiponectin deficiency [PATH:hsa03320 hsa04920 hsa04930]
H00988 Enterokinase deficiency
H01108 CD36 deficiency [PATH:hsa03320 hsa04145 hsa04920 hsa04975]
H01168 Sea-blue histiocyte disease
H01193 Familial tumoral calcinosis [PATH:hsa00512 hsa04010 hsa04810 hsa00040 hsa00500 hsa04961]
H01171 Poor drug metabolism [PATH:hsa00982]
H01205 Coumarin resistance [PATH:hsa00982]
H01210 Hypomagnesemia [PATH:hsa04978 hsa04510 hsa04514 hsa04530 hsa04540]
H00245 Calcium sensing receptor (CASR) related disease
H01371 Hypercalcemia infantile [PATH:hsa00100]
H01230 Adult-onset autosomal dominant leukodystrophy
H01231 Biotin-responsive basal ganglia disease [PATH:hsa04977]
H01234 Trimethylaminuria [PATH:hsa00982]
H01248 Erythrocyte lactate transporter defect
H01249 Ethylmalonic encephalopathy
H01266 Hypercarotenemia and vitamin A deficiency [PATH:hsa00830]
H01267 Familial hyperinsulinemic hypoglycemia [PATH:hsa00010 hsa00071 hsa00471 hsa02010 hsa04910 hsa04930]
H01268 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
H01270 Familial hypobetalipoproteinemia [PATH:hsa04975 hsa04977]
H01474 Acquired generalized lipodystrophy
H01475 Lipodystrophy
H01883 Nestor-Guillermo progeria syndrome
H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy [PATH:hsa04150 hsa04151]
H01936 Hyperbiliverdinemia [PATH:hsa00860]
H02152 Transient familial neonatal hyperbilirubinemia
H02181 Idiopathic hyperCKemia [PATH:hsa04144 hsa04510]
H02236 Keppen-Lubinsky syndrome
H02485 Extraoral halitosis due to MTO deficiency [PATH:hsa00920]
|
|
Congenital malformations
|
Congenital malformations of the nervous system
|
H00120 Muscular dystrophy-dystroglycanopathy type A [PATH:hsa00515]
H00269 Primary microcephaly
H02132 Microcephaly syndrome
H00990 Microcephaly, Amish type
H01835 Neuronal migration disorder
H00268 Lissencephaly
H00270 Periventricular nodular heterotopia
H00271 Polymicrogyria
H00263 Acrocallosal syndrome [PATH:hsa04340]
H00839 Porencephaly [PATH:hsa04510 hsa04512]
H01160 Schizencephaly [PATH:hsa04340]
H00544 Septo-optic dysplasia
H00267 Holoprosencephaly [PATH:hsa04340]
H00530 Joubert syndrome [PATH:hsa00562 hsa04070 hsa04340]
H00262 Spina bifida [PATH:hsa00670]
H00792 Warburg micro syndrome
H01001 COACH syndrome
H01034 L1 syndrome [PATH:hsa04360 hsa04514]
H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy [PATH:hsa04150]
H01211 MECP2-related severe neonatal encephalopathy
H01251 Focal cortical dysplasia of Taylor [PATH:hsa04150 hsa04910]
H01561 Chiari malformation
H01675 Syringomyelia
H01677 Congenital hydrocephalus [PATH:hsa04360 hsa04514 hsa04530]
H02458 Hydrocephalus due to congenital stenosis of aqueduct of sylvius
H01678 Dandy-Walker syndrome
H01789 You-Hoover-Fong syndrome
H01722 Galloway-Mowat syndrome
H01811 Arima syndrome
H01833 Hemimegalencephaly
H01870 Microhydranencephaly
H01881 Complex cortical dysplasia with other brain malformations
H01921 MICPCH syndrome
H01937 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
H02118 Agnathia-otocephaly complex
H02120 Anencephaly
H02151 Hereditary congenital facial paresis [PATH:hsa04550]
H02178 MASA syndrome [PATH:hsa04360 hsa04514]
H02272 CAPOS syndrome
H02282 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
H02287 Deafness, dystonia, and cerebral hypomyelination [PATH:hsa04141]
H02326 Keipert syndrome [PATH:hsa04310]
H02355 Deafness and myopia
H02356 PCWH syndrome
H02358 Arthrogryposis multiplex congenita, neurogenic, with myelin defect
H02396 Corpus callosum agenesis with facial anomalies and cerebellar ataxia
H02431 Cerebellar hypoplasia, epilepsy, and global developmental delay
H02444 Luscan-Lumish syndrome
H02446 Autosomal recessive macrocephaly/megalencephaly syndrome [PATH:hsa04150]
H02464 Poretti-Boltshauser syndrome
H02470 Neurodevelopmental disorder with structural brain abnormalities
H02487 Diencephalic-mesencephalic junction dysplasia syndrome
H02494 Alkuraya-Kucinskas syndrome
H02501 Occipital cortical malformation
|
Congenital malformations of eye
|
H00620 Axenfeld-Rieger syndrome [PATH:hsa04350]
H00635 Aniridia
H00662 Ectopia lentis
H00676 Congenital primary aphakia
H00677 Aplasia of lacrimal and salivary glands [PATH:hsa04010]
H00826 Blepharophimosis-ptosis-epicanthus inversus syndrome
H01012 Oculo-auricular syndrome
H01027 Microphthalmia
H02170 Microphthalmia, syndromic
H02172 Nanophthalmos
H01029 Cornea plana congenita
H01075 Peters anomaly
H01114 Ocular coloboma
H01159 Anterior segment dysgenesis
H01203 Primary congenital glaucoma [PATH:hsa00140 hsa00380 hsa00980]
H01766 Juvenile retinoschisis
H02045 Norrie disease
H02074 Knobloch syndrome
H02203 Optic nerve hypoplasia
H02231 Optic disc anomalies with retinal and/or macular dystrophy
H02270 Cavitary optic disc anomalies
H02288 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
H02289 Retinal dystrophy with or without extraocular anomalies
H02290 Retinal dystrophy and iris coloboma with congenital cataract
H02291 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
H02292 Retinal dystrophy, juvenile cataracts, and short stature syndrome [PATH:hsa00830]
H02426 EDICT syndrome
H02445 Microcornea, myopic chorioretinal atrophy, and telecanthus
|
Congenital malformations of ear
|
H01286 Microtia hearing impairment and cleft palate (MHICP)
H02115 Congenital aural atresia
H02286 Congenital deafness with inner ear agenesis, microtia, and microdontia
|
Congenital malformations of face and neck
|
H00516 Cleft lip and/or cleft palate
H00909 Cleft palate with ankyloglossia
H00817 Branchiooculofacial syndrome
H01927 Van der Woude syndrome
H02126 Mandibulofacial dysostosis with alopecia
H02202 Oblique facial cleft
|
Congenital malformations of the circulatory system
|
H00531 Venous malformations
H00554 Aortic valve disease [PATH:hsa04330 hsa04350]
H01272 Hypoplastic left heart syndrome [PATH:hsa04540]
H01630 Patent ductus arteriosus [PATH:hsa04270]
H02043 Capillary malformation-arteriovenous malformation [PATH:hsa04010 hsa04360]
H02044 Cutaneous and mucosal venous malformation [PATH:hsa04151 hsa04066]
H02199 Congenital heart defects, multiple type
H02230 X-linked cardiac valvular dysplasia
H02375 Cardiac valvular defect, developmental
H02453 Congenital heart defects and ectodermal dysplasia
H02454 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
H02455 Congenital heart defects, hamartomas of tongue, and polysyndactyly
|
Congenital malformations of the digestive system
|
H00463 Currarino syndrome
H00545 Polycystic liver disease [PATH:hsa04141]
H00551 Alagille syndrome [PATH:hsa04330]
H00677 Aplasia of lacrimal and salivary glands [PATH:hsa04010]
H00724 White sponge nevus
H00910 Hirschsprung disease [PATH:hsa04020 hsa04080]
H01477 Congenital short bowel syndrome
H01805 Tricho-hepato-enteric syndrome
H01855 Biliary atresia
H01858 Persistent cloaca
H01869 Megacystis microcolon intestinal hypoperistalsis syndrome
H02331 Gastrointestinal defects and immunodeficiency syndrome
|
Congenital malformations of genital organs
|
H00460 Hand-foot-genital syndrome
H01033 Congenital bilateral absence of vas deferens [PATH:hsa02010]
H01973 Fertile eunuch syndrome [PATH:hsa04913 hsa04917]
|
Congenital malformations of the urinary system
|
H00261 Meckel syndrome
H00537 Nephronophthisis
H00538 Senior-Loken syndrome
H00542 Polycystic kidney disease
H00575 Renal tubular dysgenesis [PATH:hsa04614]
H00822 Renal hypodysplasia and aplasia
H01026 Renal coloboma syndrome
H01728 Potter syndrome
H01856 Cloacal exstrophy
H01867 Congenital anomalies of kidney and urinary tract
H02012 Medullary cystic kidney disease
H02495 Congenital megabladder
|
Congenital malformations of the musculoskeletal system
|
H00207 Rhizomelic chondrodysplasia punctata [PATH:hsa00564 hsa00565 hsa04146]
H00434 Camurati-Engelmann disease [PATH:hsa04350]
H00436 Osteopetrosis [PATH:hsa04380 hsa05323]
H00444 Osteopathia striata with cranial sclerosis
H00445 Osteoarthritis with mild chondrodysplasia
H00447 HEM skeletal dysplasia
H00450 Worth type autosomal dominant osteosclerosis [PATH:hsa04310]
H00452 Buschke-Ollendorff syndrome
H00456 Fronto-otopalatodigital syndromes
H00459 Synpolydactyly
H00461 Ischiocoxopodopatellar syndrome
H00462 Stuve-Wiedemann syndrome
H00466 Grebe dysplasia [PATH:hsa04350]
H00467 Fibular hypoplasia and complex brachydactyly [PATH:hsa04350]
H00468 Acromesomelic dysplasia, Demirhan type [PATH:hsa04350]
H00470 Acromesomelic dysplasia, Maroteaux type
H00471 Split-hand/foot malformation
H00474 Schneckenbecken dysplasia
H00475 Enlarged parietal foramina/cranium bifidum
H00476 Multiple epiphyseal dysplasia
H00477 Pseudoachondroplasia
H00479 Metaphyseal dysplasias
H00482 Brachydactyly [PATH:hsa04340 hsa04350]
H00483 Angel shaped phalangoepiphyseal dysplasia [PATH:hsa04350]
H00484 Multiple synostosis syndrome [PATH:hsa04350 hsa04010 hsa04810]
H00486 Sclerosteosis [PATH:hsa04310]
H00491 Craniometaphyseal dysplasia
H00494 Desbuquois syndrome [PATH:hsa00230 hsa00240 hsa00532 hsa00534]
H00495 Eiken dysplasia
H00499 Spondylocarpotarsal synostosis syndrome
H00493 Heparan sulfate proteoglycan gene defects
H00501 Fibrous dysplasia, polyostotic
H00503 Ellis-van Creveld syndrome [PATH:hsa04340]
H00505 FGFR3-related short limb skeletal dysplasia [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
H01749 Achondroplasia
H01750 Thanatophoric dysplasia
H00506 Osteogenesis imperfecta
H00508 Blomstrand syndrome
H00511 Short rib-polydactyly syndrome
H00514 Bruck syndrome
H00515 Atelosteogenesis type II
H00517 Spondylocostal dysostosis [PATH:hsa04330]
H00521 Cleidocranial dysplasia
H00522 Brachyolmia
H00528 Frontonasal dysplasia
H02210 Acromelic frontonasal dysostosis
H02211 Acrodysostosis [PATH:hsa04928 hsa04024]
H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662]
H00572 ESCO2-related disorders
H00580 Schimke immunoosseous dysplasia
H00629 Acheiropodia
H00636 Tetra-amelia syndrome [PATH:hsa04310]
H00637 Ulnar-mammary syndrome
H00660 Congenital contractural arachnodactyly
H00751 Asphyxiating thoracic dystrophy [PATH:hsa04145 hsa04962]
H00758 Progressive pseudorheumatoid dysplasia
H00778 Tarsal-carpal coalition syndrome [PATH:hsa04350]
H00846 Fuhrmann syndrome
H00847 Al-Awadi/Raas-Rothschild syndrome
H00850 Frontorhiny
H00851 Proximal symphalangism
H00852 Klippel-Feil syndrome [PATH:hsa04350]
H00853 Cenani-Lenz syndactyly syndrome
H00855 Triphalangeal thumb-polysyndactyly syndrome [PATH:hsa04340]
H01226 Polysyndactyly [PATH:hsa04340]
H02332 Preaxial polydactyly [PATH:hsa04340]
H02333 Laurin-Sandrow syndrome
H00863 Spondylo-megaepiphyseal-metaphyseal dysplasia
H00865 Lethal congenital contractural syndrome
H00870 Brachydactyly-syndactyly syndrome
H00903 Congenital clubfoot
H00929 Congenital vertical talus
H00979 Caudal regression syndrome and Sirenomelia [PATH:hsa04310]
H01018 Metachondromatosis [PATH:hsa04630 hsa04650 hsa04670 hsa04722 hsa04920]
H01030 Congenital arthrogryposis with anterior horn cell disease
H01095 Syndactyly [PATH:hsa04540]
H01105 Cranio-lenticulo-sutural dysplasia [PATH:hsa04141]
H01194 X-linked chondrodysplasia punctata [PATH:hsa00100]
H01207 Trigonocephaly [PATH:hsa04010 hsa04520 hsa04810]
H01241 Congenital diaphragmatic hernia
H01246 Isolated congenital nail clubbing
H01376 Acrofacial dysostosis [PATH:hsa00240 hsa03040]
H01392 Arthrogryposis, mental retardation, and seizures
H01393 Van Maldergem syndrome
H01402 Nicolaides-Baraitser syndrome
H01571 Singleton-Merten syndrome
H01572 Cole-Carpenter syndrome [PATH:hsa04141]
H01575 Roifman syndrome
H01817 Beukes hip dysplasia
H01824 CODAS syndrome
H02343 EVEN-plus syndrome
H02185 Spondylometaphyseal dysplasia
H01821 Spondylometaphyseal dysplasia with cone-rod dystrophy [PATH:hsa00440 hsa00564]
H01825 Spondylometaphyseal dysplasia, Sedaghatian type
H01830 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
H02462 Spondyloepiphyseal dysplasia
H00519 Spondyloepiphyseal dysplasia congenita
H00760 Spondyloepiphyseal dysplasia tarda
H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations [PATH:hsa00532]
H00765 Spondyloepiphyseal dysplasia, Kimberley type
H02186 Spondyloepiphyseal dysplasia, Maroteaux type
H02187 Spondyloepimetaphyseal dysplasia
H00761 SEMD, Pakistani type [PATH:hsa00230 hsa00450 hsa00920 hsa01100]
H00767 SEMD, Matrilin type
H00777 SEMD, short limb-hand type
H01494 SEMD with joint laxity type [PATH:hsa00532 hsa00534]
H01828 Opsismodysplasia
H01832 Lenz-Majewski syndrome [PATH:hsa00564]
H01851 Congenital scoliosis associated with rib anomalies
H01852 Postaxial polydactyly
H01854 Metacarpal 4-5 fusion
H01884 Auriculocondylar syndrome
H02048 Larsen syndrome [PATH:hsa04510]
H02063 Diastrophic dysplasia
H02064 Atelosteogenesis type I and III [PATH:hsa04010 hsa04510]
H00678 Achondrogenesis type IA
H02065 Achondrogenesis type IB
H02066 Achondrogenesis type II [PATH:hsa04151 hsa04510 hsa04512]
H02068 Hypochondroplasia [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
H02069 SADDAN [PATH:hsa04010 hsa04014 hsa04015 hsa04151 hsa04810]
H02070 Kniest dysplasia [PATH:hsa04151 hsa04510 hsa04512]
H02071 Czech dysplasia [PATH:hsa04151 hsa04510 hsa04512]
H00520 Type II collagenopathies [PATH:hsa04151 hsa04510 hsa04512]
H02079 Oto-spondylo-megaepiphyseal dysplasia
H02080 Fibrochondrogenesis
H02154 Omodysplasia
H02155 Dyssegmental dysplasia
H02157 Short-rib thoracic dysplasia
H02158 Weyers acrofacial dysostosis [PATH:hsa04340]
H02161 Greig cephalopolysyndactyly syndrome [PATH:hsa04340]
H02183 Parastremmatic dwarfism
H02184 Metatropic dysplasia
H02223 Osteocraniostenosis
H02227 Frontometaphyseal dysplasia [PATH:hsa04010]
H02228 Acromicric dysplasia
H02299 Arthrogryposis multiplex congenita
H02300 Steel syndrome
H02306 Chondrodysplasia with joint dislocations, GPAPP type [PATH:hsa00562 hsa00920 hsa04070]
H02349 Odontochondrodysplasia
H02415 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
H02436 Al-Gazali syndrome [PATH:hsa00532 hsa00534]
H02491 Immunoskeletal dysplasia with neurodevelopmental abnormalities [PATH:hsa00534]
H02497 Smith-McCort dysplasia
H02502 Joint laxity, short stature, and myopia
|
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
H02503 Richieri-Costa-Pereira syndrome
|
|
Other congenital disorders
|
Chromosomal abnormalities
|
H00478 Prader-Willi syndrome
H01732 Angelman syndrome [PATH:hsa04120]
H01552 Down syndrome
H01562 Patau syndrome
H01564 Edwards syndrome
H01439 Williams-Beuren syndrome
H00465 Fragile X syndrome [PATH:hsa03013]
H00561 Brachydactyly-mental retardation syndrome
H01004 Velocardiofacial syndrome
H01223 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
H01238 Phelan-McDermid syndrome [PATH:hsa04724]
H01790 Emanuel syndrome
H01791 Smith-Magenis syndrome
H01731 Fragile X tremor/ataxia syndrome [PATH:hsa03013]
H01801 Kagami-Ogata syndrome
H01792 1p36 deletion syndrome
H01525 22q11.2 deletion syndrome
H01773 4p deletion syndrome
H00764 Chromosme 5p deletion syndrome [PATH:hsa04360]
H01861 Chromosome 15q24 microdeletion syndrome
H01877 Chromosome 15q13.3 microdeletion syndrome
H01831 Ring chromosome 20 syndrome
H01288 Mosaic variegated aneuploidy syndrome [PATH:hsa04110]
H02103 DeSanto-Shinawi syndrome
H02121 Koolen-De Vries syndrome
H02146 Glass syndrome
H02156 Lamb-Shaffer syndrome
H02471 Brain malformations with urinary tract defects
|
Ribosomopathies
|
H00237 Diamond-Blackfan anemia [PATH:hsa03010]
H00439 Shwachman-Diamond syndrome [PATH:hsa03008]
H00507 Dyskeratosis congenita [PATH:hsa03008]
H00518 Metaphyseal dysplasia without hypotrichosis [PATH:hsa03008]
H01966 Cartilage-hair hypoplasia [PATH:hsa03008]
H01967 Anauxetic dysplasia [PATH:hsa03008]
H00610 Treacher Collins syndrome [PATH:hsa03008 hsa03020]
H00616 Bowen-Conradi syndrome [PATH:hsa03008]
H00621 Alopecia neurologic defects and endocrinopathy syndrome [PATH:hsa03008]
H00788 Hoyeraal-Hreidarsson syndrome [PATH:hsa03008]
|
|
Other diseases
|
Mental and behavioural disorders
|
H00862 Tourette syndrome [PATH:hsa00340]
H01895 Attention deficit hyperactivity disorder (ADHD) [PATH:hsa04728 hsa04726 hsa04080]
H01453 Obsessive-Compulsive and Related Disorder
H01450 Obsessive-compulsive disorder [PATH:hsa04726 hsa04728 hsa04724]
H01448 Hoarding disorder
H00864 Trichotillomania
H01449 Excoriation disorder
H01447 Body dysmorphic disorder [PATH:hsa04726]
H01611 Alcohol dependence [PATH:hsa05034 hsa04080]
H01646 Major depressive disorder [PATH:hsa04726]
H01653 Bipolar disorder
H01649 Schizophrenia [PATH:hsa04728 hsa04080]
H01662 Generalized anxiety disorder
H01664 Panic disorder
H01670 Social anxiety disorder
H01671 Neurosis [PATH:hsa04080 hsa04728]
H01703 Eating Disorders [PATH:hsa04920 hsa04024]
H02111 Autism [PATH:hsa04514 hsa04724 hsa04310 hsa04150]
H02371 Intellectual developmental disorder with autism and speech delay
H00440 Rett syndrome
H01882 Asperger syndrome [PATH:hsa04514]
H01899 Dyslexia
H00902 Speech-language disorder 1
H00480 X-linked mental retardation [PATH:hsa04810]
H00658 Syndromic X-linked mental retardation [PATH:hsa04120]
H00768 Autosomal recessive mental retardation [PATH:hsa00513]
H00773 Autosomal dominant mental retardation [PATH:hsa04728 hsa04261 hsa04024 hsa04014]
H01911 Syndromic autosomal recessive mental retardation
H02459 Syndromic neurodevelopmental disorder
H02397 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
H02460 Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
H02461 Neurodevelopmental disorder with microcephaly
H02305 RERE-related neurodevelopmental syndrome
H02463 Syndromic intellectual developmental disorder
H01306 FRA12A mental retardation
H01514 Landau-Kleffner syndrome
H02387 Snijders Blok-Fisher syndrome
H02490 Gabriele-de Vries syndrome
|
Others
|
H00815 H syndrome
H00818 Birt-Hogg-Dube syndrome [PATH:hsa04150]
H00823 ABCD syndrome [PATH:hsa04020 hsa04080 hsa04916]
H00876 Mismatch repair deficiency [PATH:hsa03430 hsa05210 hsa05213]
H00994 Familial skewed X-chromosome inactivation
H00881 Li-Fraumeni syndrome [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa05200]
H01134 Rhabdoid predisposition syndrome
H01461 Crow-Fukase syndrome
H01820 Carney complex
H00804 Multiple cutaneous and uterine leiomyomata [PATH:hsa00020 hsa01100]
H02129 Prune belly syndrome
|
Human Diseases