| | Disease name | Disease category |
DBQD2 | H00494 | Desbuquois syndrome | Congenital malformation |
SOS | H01496 | Spondyloocular syndrome | Congenital malformation |
EDSSPD1 | H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | Congenital malformation |
EDSSPD2/SEMDJL1 | H02239 | Ehlers-Danlos syndrome, spondylodysplastic type | Congenital malformation |
| H01494 | SEMD with joint laxity type | Congenital malformation |
JDSSDHD | H01498 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | Inherited metabolic disorder |
SDJLABA | H02551 | Skeletal dysplasia with joint laxity and advanced bone age | Congenital malformation |
TPBS | H01497 | Temtamy preaxial brachydactyly syndrome | Congenital malformation |
SEDCJD | H00762 | Spondyloepiphyseal dysplasia with congenital joint dislocations | Congenital malformation |
EDSMC2 | H02246 | Ehlers-Danlos syndrome musculocontractural type | Congenital malformation |
EDSMC1 | H02246 | Ehlers-Danlos syndrome musculocontractural type | Congenital malformation |
ISDNA | H02491 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | Congenital malformation |
Multiple exostoses | H00122 | Multiple exostoses | Inherited metabolic disorder |
MRT46 | H00768 | Autosomal recessive intellectual developmental disorder | Mental and behavioural disorder |
HH15 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |