Human Diseases

[ Brite menu | Download htext | Download json | Help ]

1st Level  2nd Level  3rd Level 

 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
 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
     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
   Ear disease
   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
   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
   Hypertensive diseases
 Respiratory diseases
 Endocrine and metabolic diseases
   Hypothalamus and pituitary gland diseases
     H00253  Neurohypophyseal diabetes insipidus (NPDI)
     H00254  Growth hormone deficiency
     H02035  Isolated growth hormone deficiency
     H02036  Combined pituitary hormone deficiency
     H02037  Laron syndrome [PATH:hsa04080 hsa04060 hsa04630 hsa04151]
     H02038  X-linked panhypopituitarism
     H02039  Kowarski syndrome [PATH:hsa04060 hsa04151 hsa04080 hsa04630]
     H02040  Insulin-like growth factor I deficiency [PATH:hsa04151]
     H01102  Pituitary adenomas [PATH:hsa05202 hsa04012 hsa04110 hsa04210 hsa04910]
     H01618  Pituitary gigantism
     H01483  Acromegaly
     H00255  Hypogonadotropic hypogonadism [PATH:hsa04912 hsa04080 hsa04810]
     H00937  Precocious puberty [PATH:hsa04020 hsa04080 hsa04912]
     H02018  Central precocious puberty
     H01011  Adrenocorticotropic hormone deficiency
     H01253  Isolated follicle-stimulating hormone deficiency [PATH:hsa04080 hsa04912]
     H01274  Growth delay due to insulin-like growth factor I resistance [PATH:hsa04114 hsa04510 hsa04520 hsa04730 hsa04914]
     H01294  Nephrogenic syndrome of inappropriate antidiuresis [PATH:hsa04080 hsa04962]
     H01388  Hyperprolactinemia [PATH:hsa04151 hsa04630 hsa04917]
     H01682  Syndrome of inappropriate secretion of antidiuretic hormone [PATH:hsa04080 hsa04962]
     H01683  Disorders of antidiuretic hormone (ADH) secretion [PATH:hsa04080 hsa04962]
     H01699  Isolated TSH deficiency [PATH:hsa04918]
     H01701  Pituitary TSH hypersecretion
     H01700  Hypopituitarism [PATH:hsa04080]
     H01860  Abnormal pituitary gonadotropin secretion [PATH:hsa04912]
     H01864  Excessive secretion of growth hormone
     H01907  Acid-labile subunit deficiency
   Thyroid gland diseases
   Parathyroid diseases
   Adrenal gland diseases
   Gonadal diseases
   Other endocrine and metabolic diseases
 Digestive system diseases
 Urinary system diseases
 Reproductive system diseases
 Musculoskeletal diseases
 Skin diseases
 Congenital disorders of metabolism
   Congenital disorders of carbohydrate metabolism
   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
   Congenital disorders of amino acid metabolism
   Congenital disorders of nucleotide metabolism
   Congenital disorders of cofactor/vitamin metabolism
   Congenital disorders of ion transport and metabolism
   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
   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
   Congenital malformations of eye
   Congenital malformations of ear
   Congenital malformations of face and neck
   Congenital malformations of the circulatory system
   Congenital malformations of the digestive system
   Congenital malformations of genital organs
   Congenital malformations of the urinary system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
     H00417  Alstrom syndrome
     H00433  Holt-Oram syndrome
     H00442  Campomelic dysplasia
     H00443  Osteoglophonic dysplasia
     H00446  Craniofacial-deafness-hand syndrome
     H00449  Oculodentodigital dysplasia
     H00451  Osteoporosis-pseudoglioma syndrome [PATH:hsa04310]
     H00453  Branchio-oto-renal syndrome
     H00454  Oral-facial-digital syndrome
     H02160  Craniosynostoses
     H00458  Syndromic craniosynostoses
     H01753  Antley-Bixler syndrome
     H01754  Crouzon syndrome
     H01755  Apert syndrome
     H01756  Pfeiffer syndrome
     H01988  Jackson-Weiss syndrome
     H01989  Beare-Stevenson syndrome
     H01990  Muenke syndrome
     H01991  Saethre-Chotzen syndrome
     H01992  Craniofrontonasal syndrome
     H01993  Baller-Gerold syndrome
     H00464  Nail-patella syndrome
     H00485  Robinow syndrome [PATH:hsa04310]
     H00492  SHOX-related short stature
     H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) [PATH:hsa00100]
     H00500  Keutel syndrome
     H00502  Pallister-Hall syndrome [PATH:hsa04340]
     H00504  Rubinstein-Taybi syndrome
     H00509  3M syndrome [PATH:hsa04120]
     H00510  Feingold syndrome
     H00526  Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
     H00543  Renal-hepatic-pancreatic dysplasia
     H00571  Johanson-Blizzard syndrome
     H00574  Coffin-Lowry syndrome [PATH:hsa04010 hsa04114]
     H00581  Alport syndrome [PATH:hsa04510 hsa04512]
     H00597  Snyder-Robinson syndrome [PATH:hsa00270 hsa00330 hsa00410 hsa00480]
     H00617  Desmosterolosis [PATH:hsa00100 hsa01100]
     H00631  Cornelia de Lange syndrome [PATH:hsa04110 hsa04114]
     H00634  Duane-radial ray syndrome
     H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy [PATH:hsa04514]
     H00640  Limb-mammary syndrome
     H00641  ADULT syndrome
     H00665  Mandibuloacral dysplasia
     H00673  Weill-Marchesani syndrome
     H00675  Acrocapitofemoral dysplasia [PATH:hsa04340]
     H00682  Woodhouse-Sakati syndrome
     H00756  Pitt-Hopkins syndrome [PATH:hsa04514]
     H00757  Dyggve-Melchior-Clausen disease
     H00785  Congenital hypotrichosis with juvenile macular dystrophy [PATH:hsa04514]
     H00907  Kleefstra syndrome [PATH:hsa00310]
     H00908  Mowat-Wilson syndrome
     H00921  Revesz syndrome
     H00936  Goldberg-Shprintzen megacolon syndrome
     H00940  Cohen syndrome
     H00523  Noonan syndrome and related disorders [PATH:hsa04010]
     H01738  Noonan syndrome [PATH:hsa04014 hsa04010]
     H01984  Leopard syndrome [PATH:hsa04010 hsa04014 hsa04722]
     H01745  Cardiofaciocutaneous syndrome [PATH:hsa04010]
     H01747  Costello syndrome [PATH:hsa04014]
     H02190  CBL syndrome [PATH:hsa04012 hsa04144]
     H02191  Noonan-like syndrome with loose anagen hair [PATH:hsa04611]
     H02189  Neurofibromatosis-Noonan syndrome [PATH:hsa04014 hsa04010]
     H01437  Neurofibromatosis type 1 [PATH:hsa04010 hsa04014]
     H01438  Neurofibromatosis type 2 [PATH:hsa04390]
     H02188  Watson syndrome [PATH:hsa04014 hsa04010]
     H01986  Legius syndrome
     H00539  PTEN hamartoma tumor syndrome
     H01222  Cowden syndrome [PATH:hsa04932]
     H00559  von Hippel-Lindau syndrome [PATH:hsa04120 hsa05200 hsa05211]
     H00296  Defects in RecQ helicases [PATH:hsa03440]
     H01346  Bloom syndrome [PATH:hsa03440 hsa03460]
     H01734  Rothmund-Thomson syndrome
     H00403  Disorders of nucleotide excision repair [PATH:hsa03420]
     H01800  Verheij syndrome
     H00529  Cranioectodermal dysplasia
     H00569  Aarskog-Scott syndrome [PATH:hsa04810]
     H00583  Opitz-GBBB syndrome [PATH:hsa04120]
     H00555  Char syndrome
     H00556  CHARGE syndrome
     H00570  Kabuki syndrome [PATH:hsa00310]
     H00573  Townes-Brocks syndrome
     H00611  Popliteal pterygium syndrome (PPS)
     H00619  Kenny-Caffey syndrome
     H00632  Heterotaxy [PATH:hsa04350 hsa04060]
     H00622  Hypoparathyroidism-retardation-dysmorphism syndrome
     H00642  Lacrimo-auriculo-dento-digital syndrome [PATH:hsa04010 hsa04144 hsa04810]
     H00643  Tooth and nail syndrome
     H00709  Birk Barel mental retardation syndrome (BBMRS)
     H00711  Russell-Silver syndrome
     H00713  Beckwith-Wiedemann syndrome [PATH:hsa04110]
     H00718  Sotos syndrome [PATH:hsa00310]
     H01751  Weaver syndrome [PATH:hsa00310]
     H00653  Marfan syndrome
     H00659  Shprintzen-Goldberg syndrome
     H00661  MASS phenotype
     H00685  Bifid nose with or without anorectal and renal anomalies
     H00686  Manitoba oculotrichoanal syndrome
     H00687  Fraser syndrome
     H00727  Athabascan brainstem dysgenesis syndrome
     H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
     H00797  Martsolf syndrome
     H00811  Distal arthrogryposis [PATH:hsa04260 hsa04530]
     H00882  Cocoon syndrome [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04620 hsa04621 hsa04622 hsa04623 hsa04660 hsa04662 hsa04920]
     H00894  FG syndrome [PATH:hsa04010 hsa04510 hsa04530]
     H00859  Guttmacher syndrome
     H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
     H00868  Stapes ankylosis with broad thumb and toes [PATH:hsa04350]
     H00873  Cousin syndrome
     H00886  Donnai-Barrow syndrome [PATH:hsa04340]
     H00889  Lujan-Fryns syndrome [PATH:hsa04919]
     H00935  Cold-induced sweating syndrome [PATH:hsa04060 hsa04630]
     H00900  Geleophysic dysplasia
     H00914  Warsaw breakage syndrome
     H00915  Tuberous sclerosis complex [PATH:hsa04115 hsa04150 hsa04910]
     H00922  Schinzel-Giedion midface retraction syndrome
     H00934  Caudal duplication anomaly [PATH:hsa04310]
     H00926  Growth retardation, developmental delay, coarse facies, and early death
     H00939  Darsun syndrome
     H00943  TARP syndrome
     H00946  Arts syndrome [PATH:hsa00030 hsa00230 hsa01100]
     H00950  Arthrogryposis, renal dysfunction, and cholestasis
     H00965  RAPADILINO syndrome
     H00997  CATSHL syndrome [PATH:hsa04010 hsa04810]
     H00968  Raine syndrome
     H00969  Skeletal defects, genital hypoplasia, and mental retardation
     H00972  Endocrine-cerebro-osteodysplasia syndrome
     H00977  Trichorhinophalangeal syndrome
     H00980  Nevo syndrome [PATH:hsa00310]
     H00986  Multiple pterygium syndrome [PATH:hsa04080]
     H00987  Fetal akinesia deformation sequence
     H00992  Seckel syndrome [PATH:hsa03460 hsa04110 hsa04115]
     H00993  Microcephalic osteodysplastic primordial dwarfism, type I (MOPD I)
     H00991  Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II)
     H01008  C syndrome
     H02047  Bohring-Opitz syndrome
     H01035  Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
     H01156  STAR syndrome
     H01192  Lysyl hydroxylase 3 deficiency [PATH:hsa00310 hsa00514]
     H01195  VACTERL/VATER association [PATH:hsa00562 hsa04070 hsa04115 hsa04510 hsa04530]
     H01215  Simpson-Golabi-Behmel syndrome
     H01220  Congenital cataracts, facial dysmorphism, and neuropathy
     H01255  Juvenile-onset dystonia [PATH:hsa04145 hsa04510 hsa04520 hsa04530 hsa04670 hsa04810]
     H01265  Hydrolethalus syndrome
     H01271  Hypoparathyroidism with sensorineural deafness and renal dysplasia
     H01281  Lathosterolosis [PATH:hsa00100]
     H01289  Mulibrey nanism [PATH:hsa04120]
     H01292  Nance-Horan syndrome
     H01308  Macrocephaly macrosomia facial dysmorphism syndrome
     H01370  SHORT syndrome [PATH:hsa04151]
     H01385  Rienhoff syndrome [PATH:hsa04010 hsa04068 hsa04110 hsa04350 hsa04390]
     H01403  Coffin-Siris syndrome [PATH:hsa04714]
     H01435  Congenital asplenia [PATH:hsa03010]
     H01764  Polysplenia syndrome
     H01497  Temtamy preaxial brachydactyly syndrome [PATH:hsa00532]
     H01412  Perlman syndrome
     H01413  Adams-Oliver syndrome [PATH:hsa04330 hsa04658]
     H01496  Spondyloocular syndrome [PATH:hsa00532 hsa00534]
     H01568  3C syndrome
     H01569  CHOPS syndrome
     H01573  Zimmermann-Laband syndrome
     H01752  ATR-X syndrome
     H01769  ZTTK syndrome
     H01776  Aicardi syndrome
     H01793  Young-Simpson syndrome
     H01794  Genitopatellar syndrome
     H01795  Blepharophimosis-mental retardation syndrome
     H01788  Klippel-Trenaunay-Weber syndrome
     H01797  Webb-Dattani syndrome
     H01806  Tenorio syndrome
     H01814  Stromme syndrome
     H01816  Frank-ter Haar syndrome
     H01834  Marshall-Smith syndrome
     H01838  Mandibulofacial dysostosis with microcephaly [PATH:hsa03040]
     H01839  Burn-McKeown syndrome [PATH:hsa03040]
     H01840  Moebius syndrome
     H01843  Cerebrocostomandibular syndrome [PATH:hsa03040]
     H01844  Diaphanospondylodysostosis
     H01845  Catel-Manzke syndrome
     H01847  Thrombocytopenia-absent radius syndrome
     H01850  Hartsfield syndrome
     H01857  Filippi syndrome
     H01872  Microcephaly-capillary malformation syndrome
     H01876  Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
     H01878  Al-Raqad syndrome [PATH:hsa03018]
     H01879  Wiedemann-Steiner syndrome [PATH:hsa03022]
     H01880  Autosomal recessive microcephaly and chorioretinopathy
     H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome [PATH:hsa04150]
     H01886  Van den Ende-Gupta syndrome
     H01887  3MC syndrome [PATH:hsa04610]
     H01888  Carpenter syndrome
     H01889  Meier-Gorlin syndrome [PATH:hsa04110]
     H01893  Lateral meningocele syndrome [PATH:hsa04330]
     H01904  Microphthalmia with linear skin defects syndrome [PATH:hsa00190]
     H01908  Carey-Fineman-Ziter syndrome
     H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [PATH:hsa04150 hsa04151]
     H01913  Renpenning syndrome [PATH:hsa03040]
     H01914  Christianson syndrome
     H01915  Borjeson-Forssman-Lehmann syndrome
     H01916  Stocco dos Santos X-linked mental retardation syndrome
     H01917  CK syndrome [PATH:hsa00100]
     H01919  Proud syndrome
     H01922  Infantile hypotonia with psychomotor retardation and characteristic facies
     H01923  Microcephaly, short stature, and impaired glucose metabolism
     H01928  Smith-Kingsmore syndrome [PATH:hsa04150]
     H01930  Au-Kline syndrome
     H01931  Lethal-type popliteal pterygium syndrome
     H01932  Ablepharon-macrostomia syndrome
     H01934  Barber-Say syndrome
     H02023  Baraitser-Winter syndrome [PATH:hsa04810]
     H02046  OFC syndrome
     H02067  Boomerang dysplasia [PATH:hsa04010 hsa04510]
     H02072  Stickler syndrome [PATH:hsa04512 hsa04151 hsa04510]
     H02081  Marshall syndrome
     H02082  Floating-Harbor syndrome
     H02095  Perrault syndrome [PATH:hsa00970 hsa00120]
     H02102  Myhre syndrome [PATH:hsa04110 hsa04310 hsa04350]
     H02127  Yunis-Varon syndrome
     H02134  Microphthalmia with limb anomalies
     H02153  Megalencephaly-capillary malformation syndrome [PATH:hsa04150]
     H02169  Hennekam lymphangiectasia-lymphedema syndrome [PATH:hsa04392]
     H02180  McKusick-Kaufman syndrome
     H02195  MEHMO syndrome [PATH:hsa03013]
     H02198  Pancreatic agenesis and congenital heart disease
     H02218  DOORS syndrome
     H02219  DDOD syndrome [PATH:hsa04150 hsa04721]
     H02224  Grange syndrome
     H02226  Cardiospondylocarpofacial syndrome
     H02229  Terminal osseous dysplasia
     H02232  CAGSSS syndrome [PATH:hsa00970]
     H02233  Alazami syndrome
     H02234  Hamamy syndrome
     H02248  MEND syndrome [PATH:hsa00100]
     H02249  Primrose syndrome
     H02253  Beaulieu-Boycott-Innes syndrome [PATH:hsa03013]
     H02254  Craniosynostosis and dental anomalies [PATH:hsa04630 hsa04060]
     H02255  FDLAB syndrome
     H02260  Chondrodysplasia Chassaing-Lacombe type
     H02267  Wilson-Turner syndrome
     H02271  Cerebellofaciodental syndrome
     H02274  Cerebellar atrophy, visual impairment, and psychomotor retardation
     H02280  Complex lethal osteochondrodysplasia
     H02283  IVIC syndrome
     H02294  Tatton-Brown-Rahman syndrome [PATH:hsa00270]
     H02297  CLAPO syndrome [PATH:hsa04150 hsa04151]
     H02298  Macrocephaly, dysmorphic facies, and psychomotor retardation [PATH:hsa04120]
     H02303  Alopecia-mental retardation syndrome
     H02324  Sacral agenesis with vertebral anomalies
     H02325  Schaaf-Yang syndrome
     H02327  KBG syndrome
     H02328  Sifrim-Hitz-Weiss syndrome
     H02334  Pierpont syndrome
     H02337  Skraban-Deardorff syndrome
     H02346  Intellectual developmental disorder with short stature, facial anomalies, and speech defects [PATH:hsa04710]
     H02347  Thauvin-Robinet-Faivre syndrome
     H02363  Ververi-Brady syndrome
     H02364  Heart and brain malformation syndrome
     H02365  Helsmoortel-van der Aa syndrome
     H02368  Developmental delay with short stature, dysmorphic facial features, and sparse hair
     H02369  IMAGE-I syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02370  FILS syndrome [PATH:hsa03030 hsa03410 hsa03420]
     H02376  Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
     H02378  Hypotonia, ataxia, and delayed development syndrome
     H02381  Cleft palate, psychomotor retardation, and distinctive facial features [PATH:hsa04714]
     H02382  Bainbridge-Ropers syndrome
     H02383  Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
     H02391  Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
     H02394  Cleft palate, cardiac defects, and mental retardation
     H02422  Retinitis pigmentosa with skeletal anomalies
     H02435  Deafness-infertility syndrome
     H02437  Growth retardation, impaired intellectual development, hypotonia, and hepatopathy [PATH:hsa00970]
     H02465  Weiss-Kruszka syndrome
     H02477  Cohen-Gibson syndrome
     H02478  CATIFA syndrome
     H02479  Nivelon-Nivelon-Mabille syndrome
     H02480  Fontaine progeroid syndrome
     H02481  Syndromic disorder with short stature
     H02482  ROSAH syndrome
     H02483  Basel-Vanagait-Smirin-Yosef syndrome
     H02488  Cardiac-urogenital syndrome
     H02492  Microcephaly, growth restriction, and increased sister chromatid exchange [PATH:hsa03440 hsa03460]
     H02493  Al Kaissi syndrome
     H02496  Cerebellar, ocular, craniofacial, and genital syndrome
     H02500  Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
 Other congenital disorders
   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
 Other diseases

Last updated: February 25, 2021

» Japanese version