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Distal Myopathies

Go to external page http://purl.bioontology.org/ontology/MESH/D049310

A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.

Instance info

Synonyms

Distal Myopathy Markesbery Griggs Type, Myopathy, Udd Distal, Tibial Muscular Dystrophy, Tardive, Welander, distale Myopathie (DE), Udd Myopathy, Distal Myopathy 1, Myopathy, Late Distal Hereditary, Muscular Dystrophy, Finnish-Markesbery, Myopathy, Udd, Finnish Markesbery Muscular Dystrophy, Udd-Markesbery Muscular Dystrophy, Distal Myopathy, Distale Muskeldystrophien (DE), Muscular Dystrophy, Tibial, Laing Early Onset Distal Myopathy, Myopathy, Distal, Tibial Muscular Dystrophy, Distal Myopathy, Udd, Distal Muscular Dystrophy, Distal Myopathy 1s, Distale Myopathie, Typ Welander (DE), Myopathy 1, Distal, Welander Distal Myopathy, Distal 1 Myopathies, Tardive Tibial Muscular Dystrophy, Myopathie, distale (DE), Finnish-Markesbery Muscular Dystrophy, Muskeldystrophie, distale (DE), Udd Distal Myopathy, Muscular Dystrophies, Tibial, Muscular Dystrophy, Udd-Markesbery, Distal Myopathy Markesbery-Griggs Type, Distale Myopathie (DE), Tibiale Muskeldystrophie (DE), Distal 1 Myopathy, Distale Myopathien (DE), Muscular Dystrophy, Distal, Myopathy, Distal, Early-Onset, Autosomal Dominant, Myopathies, Distal 1, Distal Myopathy, Laing, Finnish-Markesbery-Muskeldystrophie (DE), Laing Early-Onset Distal Myopathy, Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant, Distal Myopathy, Welander, Myopathy, Distal 1, Myopathy, Laing Distal, Udd-Markesbery-Muskeldystrophie (DE), Myopathy 1s, Distal, Muscular Dystrophies, Distal, Myopathy, Distal, Swedish, Laing Distal Myopathy, Myopathies, Distal, Udd Markesbery Muscular Dystrophy, Distal Muscular Dystrophies

AQL

BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VI

DC

1

DX

20050101

HN

2005; use MUSCULAR DYSTROPHIES 2000-2004

MDA

20040707

MMR

20130708

MN

C05.651.534.500.074,C16.320.577.074,C10.668.491.175.500.074

PM

2005; see MUSCULAR DYSTROPHIES 2000-2004

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D049288,http://purl.bioontology.org/ontology/MESH/D020391,http://purl.bioontology.org/ontology/MESH/D009223,http://purl.bioontology.org/ontology/MESH/D006014,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D058494,http://purl.bioontology.org/ontology/MESH/D039141

TERMUI

T843573,T843572,T843571,T803946,T812122,T812120,T812119,T582258,T582259,T812116,T812117,T369179,T812118,T582260,T582273,T842589,T841861,T582274,T582275,T841862,T582266

TH

GHR (2014),NLM (2005),ORD (2010),OMIM (2013),NLM (2000)

cui

C1450052,C4552004,C0751336,C0221054,C1838244

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C537480,http://purl.bioontology.org/ontology/MESH/C565262,http://purl.bioontology.org/ontology/MESH/C536690,http://purl.bioontology.org/ontology/MESH/C536816,http://purl.bioontology.org/ontology/MESH/C563543,http://purl.bioontology.org/ontology/MESH/C567646,http://purl.bioontology.org/ontology/MESH/C567645,http://purl.bioontology.org/ontology/MESH/C564377,http://purl.bioontology.org/ontology/MESH/C566445,http://purl.bioontology.org/ontology/MESH/C564664,http://purl.bioontology.org/ontology/MESH/C537563

tui

T047

Instance relations

Types