Additional Disease Briefs
Also known as:
ATP7A spinal muscular atrophy, ATP7A-related distal motor neuropathy, DSMAX, Dsmax, SMAX3, X-linked dHMN type 3, X-linked dHMN3, X-linked dSMA type 3, X-linked dSMA3, X-linked distal hereditary motor neuropathy type 3, spinal muscular atrophy caused by mutation in ATP7A, spinal muscular atrophy, distal, X-linked 3, spinal muscular atrophy, distal, X-linked 3, X-linked recessive, spinal muscular atrophy, distal, X-linked recessive, spinal muscular atrophy, distal, X-linked type 3
Also known as:
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome, chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant
Also known as:
HPDR, HYP, X-linked dominant hypophosphatemic rickets, X-linked hereditary hypophosphatemic rickets, X-linked hypophosphatemia, X-linked hypophosphatemic rickets, XLH, XLHR, hereditary hypophosphatemic rickets, X-linked, hypophophatemia, X-linked, hypophophatemic vitamin D-resistant rickets, hypophosphatemia, X-linked, hypophosphatemia, vitamin D-resistant rickets, hypophosphatemic rickets X-linked dominant, hypophosphatemic rickets, X-linked, hypophosphatemic rickets, X-linked dominant, hypophosphatemic rickets, X-linked dominant, X-linked dominant, hypophosphatemic vitamin D-resistant rickets, rickets, vitamin D-resistant, vitamin D-resistant rickets, X-linked
Also known as:
XLANP, anemia, X-linked, with or without neutropenia and/or platelet abnormalities, anemia, X-linked, with/without neutropenia and/or platelet abnormalities, X-linked recessive
Also known as:
DYT-TAF1, DYT3, Lubag, Lubag syndrome, X-linked dystonia Parkinsonism, X-linked dystonia-Parkinsonism syndrome, X-linked dystonia-parkinsonism/Lubag, X-linked torsion dystonia-Parkinsonism syndrome, XDP, dystonia 3, torsion, X-linked, dystonia-Parkinsonism, X-linked, dystonia-Parkinsonism, X-linked, X-linked recessive, torsion dystonia-Parkinsonism, Filipino type
Also known as:
Emerinopathy, Emery-Dreifuss muscular dystrophy, X-linked, X-linked Emery-Dreifuss muscular dystrophy, muscular dystrophy, tardive Emery-Dreifuss type, with contractures, muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
Also known as:
XECD, corneal dystrophy, endothelial, X-linked, corneal dystrophy, endothelial, X-linked, X-linked dominant, endothelial corneal dystrophy, X-linked
Also known as:
Erythrohepatic protoporphyria, X-linked, X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, XLDPP, XLEPP, XLP, XLPP, erythropoietic protoporphyria, X-linked, protoporphyria, erythropoietic, X-linked, protoporphyria, erythropoietic, X-linked dominant
Also known as:
DFNX7, deafness, X-linked 7, deafness, X-linked 7, X-linked recessive
Also known as:
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females, X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females
