H00020  Colorectal cancer
     H02565  Hereditary nonpolyposis colorectal cancer
     H02568  Polymerase proofreading-associated polyposis
     H00876  Mismatch repair deficiency
     H02566  Muir-Torre syndrome
     H01025  Familial adenomatous polyposis

     H00030  Cervical cancer
     H01910  Infantile myofibromatosis
     H02467  Neonatal inflammatory skin and bowel disease
     H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
     H01757  Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
     H01216  Left ventricular noncompaction
     H00786  Hypotrichosis
     H00681  Acne inversa
     H00623  Hajdu-Cheney syndrome
     H01893  Lateral meningocele syndrome
     H00549  Tetralogy of Fallot
     H00554  Aortic valve disease
     H00551  Alagille syndrome
     H00517  Spondylocostal dysostosis
     H01413  Adams-Oliver syndrome

     H01133  Reynolds syndrome
     H00234  Pelger-Huet anomaly
     H00420  Familial partial lipodystrophy
     H00831  Primary dystonia
     H01255  Juvenile-onset dystonia
     H01230  Adult-onset autosomal dominant leukodystrophy
     H00810  Progressive myoclonic epilepsy
     H00877  Brain small vessel disease
     H02718  Autosomal dominant pontine microangiopathy and leukoencephalopathy
     H00266  Hereditary spastic paraplegia
     H00798  Familial carpal tunnel syndrome
     H00264  Charcot-Marie-Tooth disease
     H00770  Congenital myasthenic syndrome
     H00562  Dystrophinopathies
     H00563  Emery-Dreifuss muscular dystrophy
     H00593  Limb-girdle muscular dystrophy
     H00656  Scapuloperoneal myopathy
     H00590  Congenital muscular dystrophies (CMD/MDC)
     H01341  Collagen VI myopathy
     H01958  Merosin-deficient congenital muscular dystrophy
     H02307  Muscular dystrophy-dystroglycanopathy
     H00697  X-linked myopathy with postural muscle atrophy
     H02721  Scapulohumeroperoneal myopathy
     H01777  Schwartz-Jampel syndrome
     H01810  Congenital myopathy
     H00698  Nemaline myopathy
     H00657  Reducing body myopathy
     H00594  Distal myopathy
     H00595  Myofibrillar myopathies
     H00958  Congenital stromal corneal dystrophy
     H00805  Vitreoretinal degeneration
     H00604  Deafness, autosomal dominant
     H00605  Deafness, autosomal recessive
     H01209  Deafness, X-linked
     H02339  Auditory neuropathy
     H00294  Dilated cardiomyopathy
     H00292  Hypertrophic cardiomyopathy
     H01219  Restrictive cardiomyopathy
     H00293  Arrhythmogenic right ventricular cardiomyopathy
     H00669  Naxos disease
     H02094  Carvajal syndrome
     H01216  Left ventricular noncompaction
     H00729  Sick sinus syndrome
     H00731  Atrial fibrillation
     H02719  Multifocal fibromuscular dysplasia
     H00801  Familial thoracic aortic aneurysm and dissection
     H02553  Visceral myopathy
     H00717  Striate palmoplantar keratoderma
     H00584  Epidermolysis bullosa simplex
     H00586  Epidermolysis bullosa, junctional
     H01737  Epidermolysis bullosa
     H00557  Cutis laxa
     H00663  Restrictive dermopathy
     H01173  Stiff skin syndrome
     H02539  Intervertebral disc disease
     H01593  Osteoporosis
     H00582  Benign familial hematuria
     H00269  Primary microcephaly
     H00271  Polymicrogyria
     H00553  Congenital supravalvular aortic stenosis
     H00546  Atrial septal defect
     H00459  Synpolydactyly
     H02716  Becker nevus syndrome
     H00673  Weill-Marchesani syndrome
     H00579  Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)
     H00613  Infantile cortical hyperostosis
     H02079  Oto-spondylo-megaepiphyseal dysplasia
     H02080  Fibrochondrogenesis
     H02155  Dyssegmental dysplasia
     H02187  Spondyloepimetaphyseal dysplasia
     H02185  Spondylometaphyseal dysplasia
     H02732  Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
     H00477  Pseudoachondroplasia
     H00476  Multiple epiphyseal dysplasia
     H00900  Geleophysic dysplasia
     H02228  Acromicric dysplasia
     H00506  Osteogenesis imperfecta
     H02299  Arthrogryposis multiplex congenita
     H00811  Distal arthrogryposis
     H00865  Lethal congenital contractural syndrome
     H02717  Contractures, pterygia, and spondylocarpotarsal fusion syndrome
     H02081  Marshall syndrome
     H00665  Mandibuloacral dysplasia
     H00653  Marfan syndrome
     H02720  Meester-Loeys syndrome
     H00802  Ehlers-Danlos syndrome
     H02241  Ehlers-Danlos syndrome cardiac valvular type
     H02242  Ehlers-Danlos syndrome vascular type
     H02243  Ehlers-Danlos syndrome arthrochalasia type
     H02724  Combined osteogenesis imperfecta and Ehlers-Danlos syndrome
     H00601  Hutchinson-Gilford progeria syndrome
     H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
     H02023  Baraitser-Winter syndrome
     H02072  Stickler syndrome
     H02725  Heart-hand syndrome
     H02953  Uruguay facio-cardio-musculo-skeletal syndrome
     H00581  Alport syndrome
     H01260  Glomerulopathy with fibronectin deposits

     H00219  Hemophilia
     H02092  von Willebrand disease
     H00938  Factor XI deficiency
     H01254  Congenital prothrombin deficiency
     H00222  Congenital fibrinogen deficiency
     H02257  Factor X deficiency
     H02256  Factor VII deficiency
     H00220  Factor V deficiency
     H00945  Factor XIII deficiency
     H00941  Factor XII deficiency
     H01078  Fletcher factor deficiency
     H00983  Alpha-2-plasmin inhibitor (a2-PI) deficiency
     H01106  Plasminogen activator inhibitor type 1 deficiency
     H01206  Plasminogen deficiency
     H00223  Inherited thrombophilia
     H01381  Antithrombin III deficiency
     H01235  Bleeding disorder platelet-type
     H02093  Platelet-type von Willebrand disease
     H01740  Macrothrombocytopenia
     H00225  Thrombotic thrombocytopenic purpura
     H01006  Hereditary angioedema
     H00106  Complement regulatory protein defects
     H01103  Alpha-1-antitrypsin deficiency
     H00845  Familial amyloidosis
     H01730  Myocardial infarction
     H01714  Chronic obstructive pulmonary disease (COPD)
     H01433  Budd-Chiari syndrome

     H00298  Yersiniosis
     H00297  Plague
     H00394  Measles
     H00008  Burkitt lymphoma
     H00009  Adult T-cell leukemia
     H00007  Hodgkin lymphoma
     H00054  Nasopharyngeal cancer
     H01725  Primary immunodeficiency disease
     H02526  Disorders of adaptive immunity
     H00085  Agammaglobulinemias
     H00088  Common variable immunodeficiency
     H00093  Combined immunodeficiency
     H00091  T-B+Severe combined immunodeficiency
     H01387  Activated PI3K-delta syndrome
     H02585  Roifman-Chitayat syndrome
     H00108  Autoimmune lymphoproliferative syndromes
     H00080  Systemic lupus erythematosus
     H02540  Infantile-onset multisystem autoimmune disease
     H02159  Familial cold autoinflammatory syndrome
     H01743  Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
     H00081  Hashimoto thyroiditis
     H00254  Growth hormone deficiency
     H01370  SHORT syndrome