All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05103 deafness deafness - - 847 765 SMPX - -
05285 DFNX deafness, X-linked (DFNX) - - 44 44 SMPX - -
00023 DFNX4 deafness, X-linked, type 4 (DFNX4) 300066 XLD - - SMPX - -
07237 MPD7 Myopathy, Distal, 7, Adult-Onset, X-Linked 301075 XL 11 11 SMPX skeletal muscle X-linked adult-onset distal myopathy-7 (MPD7) is an X-linked recessive disorder that affects only males. It is characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. The disorder is slowly progressive, with most affected individuals developing distal upper limb involvement and some developing proximal muscle involvement, although patients remain ambulatory. Muscle biopsy shows variable myopathic changes as well as sarcoplasmic inclusions that may represent abnormally aggregated proteins.
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