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