Phenotypes for disease #00101 (TMD (dystrophy, muscular, tibial (TMD)), OMIM:600334)

12 entries on 1 page. Showing entries 1 - 12.
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AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     

Individual ID     
0000044582 - Familial, autosomal dominant - - - - - IHC no M8/M9-TTN epitopes but A169/A170 normal, CAPN3 severly reduced - Johan den Dunnen 00057951
0000044583 - Familial, autosomal dominant - - - 47y - CPK 497 - Johan den Dunnen 00057952
0000044618 - Isolated (sporadic) - - - - - considerably more severe TMD - Johan den Dunnen 00057987
0000044619 - Familial, autosomal dominant - - - - - - - Johan den Dunnen 00057988
0000044620 - Familial - - - - - - - Johan den Dunnen 00057989
0000044621 - Familial, autosomal dominant - - - - - moderately more severe TMD - Johan den Dunnen 00057990
0000044990 - Familial, autosomal dominant - - - - - late onset, unaffected 50-55y - Johan den Dunnen 00058359
0000045043 - Familial, autosomal recessive - - - - - severe, unusual early onset - Claire Chauveau 00058412
0000045045 - Familial, autosomal recessive - - - - - severe - Claire Chauveau 00058414
0000045058 - Familial, autosomal dominant - - - - - - - Claire Chauveau 00058427
0000045062 - Isolated (sporadic) - - - - - severe distal - Johan den Dunnen 00058431
0000121795 Argyrophilic Grain Disease Unknown 39y - - - - - - Marc Cruts 00149379
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