H01605  Myelofibrosis
     H00012  Polycythemia vera
     H02541  Juvenile myelomonocytic leukemia
     H00003  Acute myeloid leukemia
     H02664  Joint contracture, osteochondromas, and B-cell lymphoma
     H00232  Hereditary stomatocytosis
     H02658  X-linked congenital hemolytic anemia
     H00236  Congenital polycythemia
     H00223  Inherited thrombophilia
     H01235  Bleeding disorder platelet-type
     H00226  Glanzmann thrombasthenia
     H01162  Scott syndrome
     H01612  Essential thrombocythemia
     H00102  Classic complement pathway component defects
     H02467  Neonatal inflammatory skin and bowel disease
     H00084  Graft-versus-host disease
     H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy
     H01267  Familial hyperinsulinemic hypoglycemia
     H00186  Hyperargininemia
     H02086  Mitochondrial complex III deficiency
     H01248  Monocarboxylate transporter 1 deficiency
     H00148  Lysosomal acid lipase deficiency
     H00836  GLUT1 deficiency syndrome
     H00833  Neurodegeneration with brain iron accumulation
     H01108  CD36 deficiency
     H00159  Tangier disease
     H00930  Hypoalphalipoproteinemia
     H00057  Parkinson disease
     H00831  Primary dystonia
     H01204  Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
     H00056  Alzheimer disease
     H00679  Hypomyelinating leukodystrophy
     H00808  Idiopathic generalized epilepsies
     H00593  Limb-girdle muscular dystrophy
     H01810  Congenital myopathy
     H02321  Early-onset myopathy, areflexia, respiratory distress, and dysphagia
     H01965  Miyoshi muscular dystrophy
     H00527  Retinitis pigmentosa
     H00821  Age-related macular degeneration
     H00604  Deafness, autosomal dominant
     H02339  Auditory neuropathy
     H01742  Coronary artery disease
     H00079  Asthma
     H01191  Asthma with nasal polyps and aspirin intolerance
     H00218  Cystic fibrosis
     H00715  Darier disease
     H00755  Acrokeratosis verruciformis
     H02665  Reticulate acropigmentation of Kitamura
     H00750  Keratosis pilaris atrophicans
     H00630  Rheumatoid arthritis
     H01897  Oocyte/zygote/embryo maturation arrest
     H02559  Microvascular complications of diabetes
     H00434  Camurati-Engelmann disease
     H00498  Gnathodiaphyseal dysplasia
     H01018  Metachondromatosis
     H02294  Tatton-Brown-Rahman syndrome
     H01984  Leopard 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
     H02721  Scapulohumeroperoneal myopathy
     H01810  Congenital myopathy
     H00698  Nemaline 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
     H00493  Heparan sulfate proteoglycan gene defects
     H02079  Oto-spondylo-megaepiphyseal dysplasia
     H02080  Fibrochondrogenesis
     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 spondylocarpostarsal 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
     H00581  Alport syndrome
     H01260  Glomerulopathy with fibronectin deposits