H02099  Alpha-methylacyl-CoA racemase deficiency
     H00407  Peroxisomal beta-oxidation enzyme deficiency
     H00874  Leukoencephalopathy with dystonia and motor neuropathy
     H02096  Peroxisomal acyl-CoA oxidase deficiency
     H02098  D-bifunctional protein deficiency

     H00423  Sphingolipidosis
     H00124  GM2 gangliosidoses
     H00281  GM1 gangliosidosis
     H02016  Tay-Sachs disease
     H02017  Sandhoff disease
     H00125  Fabry disease
     H00127  Metachromatic leukodystrophy
     H00126  Gaucher disease
     H00137  Niemann-Pick disease type A/B
     H00138  Farber lipogranulomatosis
     H00135  Krabbe disease

     H00003  Acute myeloid leukemia
     H00031  Breast cancer
     H00093  Combined immunodeficiency
     H01909  Hypoinsulinemic hypoglycemia with hemihypertrophy
     H00773  Autosomal dominant intellectual developmental disorder
     H00848  Ataxia with ocular apraxia
     H01807  Hereditary diffuse leukoencephalopathy with spheroids
     H00534  Cerebral cavernous malformation
     H00058  Amyotrophic lateral sclerosis (ALS)
     H01282  Spermatogenic failure
     H02647  Macrodactyly
     H02627  Epidermal nevus
     H02723  Macrocephaly/autism syndrome
     H01885  Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
     H01912  Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
     H02119  Proteus syndrome
     H02153  Megalencephaly-capillary malformation syndrome
     H02297  CLAPO syndrome
     H01222  Cowden syndrome
     H02632  PP2A-related neurodevelopmental disorder

     H00020  Colorectal cancer
     H00024  Prostate cancer
     H01740  Macrothrombocytopenia
     H02585  Roifman-Chitayat syndrome
     H00773  Autosomal dominant intellectual developmental disorder
     H00879  Perry syndrome
     H00831  Primary dystonia
     H00679  Hypomyelinating leukodystrophy
     H00058  Amyotrophic lateral sclerosis (ALS)
     H00455  Spinal muscular atrophy
     H00856  Distal hereditary motor neuropathies
     H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
     H00264  Charcot-Marie-Tooth disease
     H00789  Keratoconus
     H01880  Autosomal recessive microcephaly and chorioretinopathy
     H00837  Leber congenital amaurosis
     H00838  Congenital fibrosis of the extraocular muscles
     H01897  Oocyte/zygote/embryo maturation arrest
     H00269  Primary microcephaly
     H01881  Complex cortical dysplasia with other brain malformations
     H01870  Microhydranencephaly
     H00268  Lissencephaly
     H02606  Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
     H02157  Short-rib thoracic dysplasia
     H01814  Stromme syndrome
     H02191  Noonan-like syndrome with loose anagen hair
     H02595  Oculoskeletodental syndrome
     H02607  Short stature and microcephaly with genital anomalies
     H01288  Mosaic variegated aneuploidy syndrome
     H02461  Neurodevelopmental disorder with microcephaly
     H01579  Congenital symmetric circumferential skin creases

     H00299  Shigellosis
     H00041  Kaposi sarcoma
     H00150  Danon disease
     H00833  Neurodegeneration with brain iron accumulation
     H00831  Primary dystonia
     H00063  Spinocerebellar ataxia (SCA)
     H01891  Autosomal recessive spinocerebellar ataxias
     H00679  Hypomyelinating leukodystrophy
     H00810  Progressive myoclonic epilepsy
     H00058  Amyotrophic lateral sclerosis (ALS)
     H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
     H00264  Charcot-Marie-Tooth disease
     H00265  Hereditary sensory and autonomic neuropathy
     H00594  Distal myopathy
     H00612  Primary open angle glaucoma
     H01227  Inflammatory bowel disease (IBD)
     H00437  Paget disease of bone
     H00799  CEDNIK syndrome
     H02470  Neurodevelopmental disorder with structural brain abnormalities

     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

     H00299  Shigellosis
     H00365  Herpes simplex virus infection
     H01563  HIV infection
     H00368  Cytomegalovirus infection
     H02608  Autoinflammatory-pancytopenia syndrome
     H00080  Systemic lupus erythematosus
     H00290  Aicardi-Goutieres syndrome
     H01000  Retinal vasculopathy with cerebral leukodystrophy
     H00291  Familial chilblain lupus (FCL)
     H01746  STING-associated vasculopathy with onset in infancy