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
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