| | Disease name | Disease category |
OOMD7 | H01897 | Oocyte/zygote/embryo maturation arrest | Reproductive system disease |
BDPLT8 | H01235 | Bleeding disorder platelet-type | Hematologic disease |
PARK14/NBIA2 | H00057 | Parkinson disease | Neurodegenerative disease |
| H00833 | Neurodegeneration with brain iron accumulation | Nervous system disease |
TGD/HPALP1 | H00159 | Tangier disease | Inherited metabolic disorder |
| H00930 | Hypoalphalipoproteinemia | Inherited metabolic disorder |
AD18/RAK | H00056 | Alzheimer disease | Neurodegenerative disease |
| H02665 | Reticulate acropigmentation of Kitamura | Skin disease |
NISBD1 | H02467 | Neonatal inflammatory skin and bowel disease | Immune system disease |
ARMD12/CHDS1 | H00821 | Age-related macular degeneration | Nervous system disease |
| H01742 | Coronary artery disease | Cardiovascular disease |
JCOSL | H02664 | Joint contracture, osteochondromas, and B-cell lymphoma | Cancer |
ECYT5/MVCD2 | H00236 | Congenital polycythemia | Hematologic disease |
| H02559 | Microvascular complications of diabetes | Endocrine and metabolic disease |
ECYT1 | H00236 | Congenital polycythemia | Hematologic disease |
CV/AML/ECYT1 | H00012 | Polycythemia vera | Cancer |
| H00003 | Acute myeloid leukemia | Cancer |
| H00236 | Congenital polycythemia | Hematologic disease |
CAMRQ4 | H01204 | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) | Nervous system disease |
DFNA84/HLD24/AUNA2 | H00604 | Deafness, autosomal dominant | Nervous system disease |
| H00679 | Hypomyelinating leukodystrophy | Inherited metabolic disorder |
| H02339 | Auditory neuropathy | Nervous system disease |
HACXL | H02658 | X-linked congenital hemolytic anemia | Hematologic disease |
BDPLT7 | H01162 | Scott syndrome | Hematologic disease |
DYT24 | H00831 | Primary dystonia | Nervous system disease |
GDD1/MMD3/LGMDR12 | H00498 | Gnathodiaphyseal dysplasia | Musculoskeletal disease |
| H01965 | Miyoshi muscular dystrophy | Nervous system disease |
| H00593 | Limb-girdle muscular dystrophy | Nervous system disease |
GT2/BDPLT24 | H00226 | Glanzmann thrombasthenia | Hematologic disease |
| H01235 | Bleeding disorder platelet-type | Hematologic disease |
THPH5 | H00223 | Inherited thrombophilia | Hematologic disease |
RP38 | H00527 | Retinitis pigmentosa | Nervous system disease |
C1QD | H00102 | Classic complement pathway component defects | Primary immunodeficiency |
CMYP10/EMRDD | H01810 | Congenital myopathy | Nervous system disease |
| H02321 | Early-onset myopathy, areflexia, respiratory distress, and dysphagia | Musculoskeletal disease |
MF/THCYT1 | H01605 | Myelofibrosis | Cancer |
| H01612 | Essential thrombocythemia | Hematologic disease |
KPA | H00750 | Keratosis pilaris atrophicans | Congenital malformation |
BDPLT10/CHDS7 | H01108 | CD36 deficiency | Inherited metabolic disorder |
| H01742 | Coronary artery disease | Cardiovascular disease |
ASA | H01191 | Asthma with nasal polyps and aspirin intolerance | Immune system disease |
CF/CED/IBDIMDE | H00218 | Cystic fibrosis | Respiratory system disease |
| H00434 | Camurati-Engelmann disease | Congenital malformation |
| H02669 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | Immune system disease |
AML/TBRS | H00003 | Acute myeloid leukemia | Cancer |
| H02294 | Tatton-Brown-Rahman syndrome | Congenital malformation |
DAR/AKV | H00715 | Darier disease | Congenital malformation |
| H00755 | Acrokeratosis verruciformis | Congenital malformation |
Asthma | H00079 | Asthma | Immune system disease |
CESD | H00148 | Lysosomal acid lipase deficiency | Inherited metabolic disorder, Lysosomal disease |
MC3DN10 | H02086 | Mitochondrial complex III deficiency | Inherited metabolic disorder, Mitochondrial disease |
GVHDS/RA | H00084 | Graft-versus-host disease | Immune system disease |
| H00630 | Rheumatoid arthritis | Immune system disease |
Argininemia | H00186 | Hyperargininemia | Inherited metabolic disorder |
GLUT1DS/EIG12/SDCHCN | H00836 | GLUT1 deficiency syndrome | Nervous system disease |
| H00808 | Idiopathic generalized epilepsies | Nervous system disease |
| H00232 | Hereditary stomatocytosis | Hematologic disease |
MCT1D/HHF7 | H01248 | Monocarboxylate transporter 1 deficiency | Inherited metabolic disorder |
| H01267 | Familial hyperinsulinemic hypoglycemia | Inherited metabolic disorder |
JMML/LPRD1/MC | H02541 | Juvenile myelomonocytic leukemia | Cancer |
| H01984 | Leopard syndrome | Congenital malformation |
| H01018 | Metachondromatosis | Congenital malformation |