| | Disease name | Disease category |
| OI1/2/3/4/OST/ICH/EDSARTH1/OIEDS1 | H00506 | Osteogenesis imperfecta | Congenital malformation |
| H01593 | Osteoporosis | Musculoskeletal disease |
| H02243 | Ehlers-Danlos syndrome arthrochalasia type | Congenital malformation |
| H02724 | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome | Congenital malformation |
| OI2/3/4/OST/EDSCV/EDSARTH2/OIEDS2 | H00506 | Osteogenesis imperfecta | Congenital malformation |
| H01593 | Osteoporosis | Musculoskeletal disease |
| H02241 | Ehlers-Danlos syndrome cardiac valvular type | Congenital malformation |
| H02243 | Ehlers-Danlos syndrome arthrochalasia type | Congenital malformation |
| H02724 | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome | Congenital malformation |
| Type II collagenopathies | H00445 | Osteoarthritis with mild chondrodysplasia | Congenital malformation |
| H00476 | Multiple epiphyseal dysplasia | Congenital malformation |
| H00519 | Spondyloepiphyseal dysplasia congenita | Congenital malformation |
| H00520 | Type II collagenopathies | Congenital malformation |
| H01526 | Legg-Calve-Perthes Disease | Musculoskeletal disease |
| H01529 | Avascular necrosis of femoral head | Musculoskeletal disease |
| H02066 | Achondrogenesis type II | Congenital malformation |
| H02070 | Kniest dysplasia | Congenital malformation |
| H02071 | Czech dysplasia | Congenital malformation |
| H02072 | Stickler syndrome | Congenital malformation |
| H02185 | Spondylometaphyseal dysplasia | Congenital malformation |
| H02187 | Spondyloepimetaphyseal dysplasia | Congenital malformation |
| HANAC/BSVD1 | H00579 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) | Congenital malformation |
| H00839 | Porencephaly | Congenital malformation |
| H00877 | Brain small vessel disease | Cardiovascular disease |
| PADMAL/RATOR | H02718 | Autosomal dominant pontine microangiopathy and leukoencephalopathy | Congenital malformation |
| H02880 | Retinal arterial tortuosity | Congenital malformation |
| BSVD2 | H00839 | Porencephaly | Congenital malformation |
| H00877 | Brain small vessel disease | Cardiovascular disease |
| ATS3A_3B/BFH2 | H00581 | Alport syndrome | Congenital malformation |
| H00582 | Benign familial hematuria | Urinary system disease |
| ATS2/BFH1 | H00581 | Alport syndrome | Congenital malformation |
| H00582 | Benign familial hematuria | Urinary system disease |
| ATS1 | H00581 | Alport syndrome | Congenital malformation |
| DFNX6 | H01209 | Deafness, X-linked | Nervous system disease |
| BTHLM1A/UCMD1A | H01340 | Bethlem myopathy | Nervous system disease |
| H01778 | Ullrich disease | Nervous system disease |
| Myosclerosis/BTHLM1B/UCMD1B | H01338 | Myosclerosis | Nervous system disease |
| H01340 | Bethlem myopathy | Nervous system disease |
| H01778 | Ullrich disease | Nervous system disease |
| DYT27/BTHLM1C/UCMD1C | H00831 | Primary dystonia | Nervous system disease |
| H01340 | Bethlem myopathy | Nervous system disease |
| H01778 | Ullrich disease | Nervous system disease |
| EDM6/STL4 | H00476 | Multiple epiphyseal dysplasia | Congenital malformation |
| H02072 | Stickler syndrome | Congenital malformation |
| EDM2/STL5 | H00476 | Multiple epiphyseal dysplasia | Congenital malformation |
| H02072 | Stickler syndrome | Congenital malformation |
| EDM3/STL6/IDD | H00476 | Multiple epiphyseal dysplasia | Congenital malformation |
| H02072 | Stickler syndrome | Congenital malformation |
| H02539 | Intervertebral disc disease | Musculoskeletal disease |
| PTBHS | H02464 | Poretti-Boltshauser syndrome | Congenital malformation |
| LGMDR23/MDC1A | H00593 | Limb-girdle muscular dystrophy | Nervous system disease |
| H01958 | Merosin-deficient congenital muscular dystrophy | Nervous system disease |
| JEB2A/2B/2C | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| H00813 | Laryngo onycho cutaneous syndrome | Congenital malformation |
| CMD1JJ | H00294 | Dilated cardiomyopathy | Cardiovascular disease |
| NPHS26/BBDS2 | H01657 | Nephrotic syndrome | Urinary system disease |
| H02629 | Bent bone dysplasia syndrome | Congenital malformation |
| LIS5 | H00268 | Lissencephaly | Congenital malformation |
| PIERS/NPHS5 | H00576 | Pierson syndrome | Urinary system disease |
| H01657 | Nephrotic syndrome | Urinary system disease |
| JEB1A/1B/AI1A | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| H00615 | Amelogenesis imperfecta | Congenital malformation |
| JEB3A/3B | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| OCCM | H02501 | Occipital cortical malformation | Congenital malformation |
| LIS2/ETL7 | H00268 | Lissencephaly | Congenital malformation |
| H00809 | Familial epilepsy temporal lobe (ETL) | Nervous system disease |
| JEB7/ILNEB | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| H02500 | Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa | Congenital malformation |
| JEB6 | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| CMD | H00590 | Congenital muscular dystrophies (CMD/MDC) | Nervous system disease |
| JEB5A/5B | H00586 | Epidermolysis bullosa, junctional | Congenital malformation |
| LMPHM4 | H00535 | Lymphatic malformation | Congenital malformation |
| Malaria | H00361 | Malaria | Parasitic infectious disease |
| BCDS1 | H02474 | Blepharocheilodontic syndrome | Congenital malformation |
| LAD1 | H00099 | Leukocyte adhesion deficiency | Primary immunodeficiency |
| Afibrinogenemia/AMYLD2 | H00222 | Congenital fibrinogen deficiency | Hematologic disease |
| H00845 | Familial amyloidosis | Nervous system disease |
| Afibrinogenemia | H00222 | Congenital fibrinogen deficiency | Hematologic disease |
| VWD | H02092 | von Willebrand disease | Hematologic disease |
| EDSCL3/IDD | H00802 | Ehlers-Danlos syndrome | Congenital malformation |
| H02539 | Intervertebral disc disease | Musculoskeletal disease |
| EDM1/PSACH/CTS2 | H00476 | Multiple epiphyseal dysplasia | Congenital malformation |
| H00477 | Pseudoachondroplasia | Congenital malformation |
| H00798 | Familial carpal tunnel syndrome | Nervous system disease |
| GFND/SMDCF | H01260 | Glomerulopathy with fibronectin deposits | Urinary system disease |
| H02185 | Spondylometaphyseal dysplasia | Congenital malformation |
| MFS/MASS/ECTOL1/WMS2/GPHYSD2/SSS/ACMICD | H00653 | Marfan syndrome | Congenital malformation |
| H00661 | MASS phenotype | Congenital malformation |
| H00662 | Ectopia lentis | Congenital malformation |
| H00673 | Weill-Marchesani syndrome | Congenital malformation |
| H00900 | Geleophysic dysplasia | Congenital malformation |
| H01173 | Stiff skin syndrome | Skin disease |
| H02228 | Acromicric dysplasia | Congenital malformation |
| DGI/DTDP2/DFNA39/DTDP2 | H00432 | Hereditary dentine disorders | Congenital malformation |
| H00604 | Deafness, autosomal dominant | Nervous system disease |
| H02348 | Dentin dysplasia | Congenital malformation |
| DFNA56 | H00604 | Deafness, autosomal dominant | Nervous system disease |
| NEDSTO | H03007 | Nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus | Congenital malformation |
| EDSCLL1 | H00802 | Ehlers-Danlos syndrome | Congenital malformation |
| VUR8 | H01037 | Vesicoureteral reflux | Urinary system disease |
| FRASRS1 | H00687 | Fraser syndrome | Congenital malformation |
| BNAR/MOTA/TRIGNO2 | H00685 | Bifid nose with or without anorectal and renal anomalies | Congenital malformation |
| H00686 | Manitoba oculotrichoanal syndrome | Congenital malformation |
| H01207 | Trigonocephaly | Congenital malformation |
| FRASRS2/CRYPTOP | H00687 | Fraser syndrome | Congenital malformation |
| H02852 | Unilateral or bilateral isolated cryptophthalmos | Congenital malformation |
| 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 |
| ARHR1 | H00214 | Hypophosphatemic rickets | Inherited metabolic disorder |
| H02139 | Autosomal recessive hypophosphatemic rickets | Inherited metabolic disorder |
| GT1 | H00226 | Glanzmann thrombasthenia | Hematologic disease |
| BDPLT16 | H01235 | Bleeding disorder platelet-type | Hematologic disease |
| GT2 | H00226 | Glanzmann thrombasthenia | Hematologic disease |
| BDPLT24 | H01235 | Bleeding disorder platelet-type | Hematologic disease |
| AI1H | H00615 | Amelogenesis imperfecta | Congenital malformation |
| RHDA1 | H00822 | Renal hypodysplasia and aplasia | Congenital malformation |
| PVNH1/FGS2/CIIP/TOD/CVDPX | H00270 | Periventricular nodular heterotopia | Congenital malformation |
| H00894 | FG syndrome | Congenital malformation |
| H01276 | Chronic idiopathic intestinal pseudo-obstruction | Digestive system disease |
| H02229 | Terminal osseous dysplasia | Congenital malformation |
| H02230 | X-linked cardiac valvular dysplasia | Congenital malformation |
| FOS/FMD1 | H00456 | Fronto-otopalatodigital syndromes | Congenital malformation |
| H02227 | Frontometaphyseal dysplasia | Congenital malformation |
| SCT | H00499 | Spondylocarpotarsal synostosis syndrome | Congenital malformation |
| AO1/3/BD/LRS | H02064 | Atelosteogenesis type I and III | Congenital malformation |
| H02067 | Boomerang dysplasia | Congenital malformation |
| H02048 | Larsen syndrome | Congenital malformation |
| KNDLRS | H00588 | Kindler syndrome | Skin disease |
| LAD3 | H00099 | Leukocyte adhesion deficiency | Primary immunodeficiency |
| MDRCMTT | H00593 | Limb-girdle muscular dystrophy | Nervous system disease |