|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
11478 |
|
|
hyperphosphatasia with intellectual disability syndrome 6
|
14780 |
|
|
hyperphosphatasia with intellectual disability syndrome 6; HPMRS6
|
14780 |
|
|
hyperphosphatasia with intellectual disability syndrome type 6
|
14780 |
|
|
odontogenic keratocysts, and skeletal anomalies multiple basal cell nevi
|
D001478 |
|
|
nevus syndrome, basal cell
|
D001478 |
|
|
glycosylphosphatidylinositol biosynthesis defect 12
|
14780 |
|
|
carbohydrate deficient glycoprotein syndrome type IIo
|
14789 |
|
|
autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2
|
14788 |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2W
|
14788 |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2X
|
14782 |
|
|
autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
|
14782 |
|
|
muscular dystrophy, limb-girdle, type 2W
|
14788 |
|
|
muscular dystrophy, limb-girdle, type 2W; LGMD2W
|
http://purl.obolibrary.org/obo/MONDO_0014788 |
|
|
muscular dystrophy, limb-girdle, type 2X
|
14782 |
|
