Human Diseases

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   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
     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
     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
     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
     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

Last updated: March 5, 2021

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