loading...| Preferred Name |
Distal Myopathies |
| Synonyms |
Distal Myopathy, Welander |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D049310 |
| altLabel |
Distal Myopathy, Welander Myopathy, Distal 1 Laing Distal Myopathy Distal Muscular Dystrophy Distal Myopathy Markesbery-Griggs Type Laing Early-Onset Distal Myopathy Muscular Dystrophy, Distal Distal 1 Myopathy Muscular Dystrophy, Udd-Markesbery Myopathy, Udd Tardive Tibial Muscular Dystrophy Udd Markesbery Muscular Dystrophy Muscular Dystrophy, Tibial Muscular Dystrophies, Distal Myopathies, Distal 1 Udd Distal Myopathy Myopathy, Late Distal Hereditary Welander Distal Myopathy Myopathy, Distal, Swedish Finnish-Markesbery Muscular Dystrophy Finnish Markesbery Muscular Dystrophy Udd Myopathy Distal Myopathy Markesbery Griggs Type Myopathies, Distal Myopathy, Distal Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant Myopathy, Udd Distal Myopathy, Distal, Early-Onset, Autosomal Dominant Muscular Dystrophies, Tibial Laing Early Onset Distal Myopathy Udd-Markesbery Muscular Dystrophy Muscular Dystrophy, Finnish-Markesbery Distal Myopathy 1 Distal 1 Myopathies Tibial Muscular Dystrophy Myopathy, Laing Distal Distal Myopathy 1s Myopathy 1, Distal Tibial Muscular Dystrophy, Tardive Distal Myopathy, Laing Distal Myopathy Myopathy 1s, Distal Distal Muscular Dystrophies Distal Myopathy, Udd |
| 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 |
| cui |
C4552004 C0221054 C1450052 C0751336 C1838244 |
| DC |
1 |
| definition |
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. |
| DX |
20050101 |
| HN |
2005; use MUSCULAR DYSTROPHIES 2000-2004 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D020389 http://purl.bioontology.org/ontology/MESH/D006014 http://purl.bioontology.org/ontology/MESH/D020391 http://purl.bioontology.org/ontology/MESH/D020388 http://purl.bioontology.org/ontology/MESH/D039141 http://purl.bioontology.org/ontology/MESH/D058494 |
| Machine permutation |
2005; see MUSCULAR DYSTROPHIES 2000-2004 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564377 http://purl.bioontology.org/ontology/MESH/C563543 http://purl.bioontology.org/ontology/MESH/C566445 http://purl.bioontology.org/ontology/MESH/C567645 http://purl.bioontology.org/ontology/MESH/C537480 http://purl.bioontology.org/ontology/MESH/C564664 http://purl.bioontology.org/ontology/MESH/C537563 http://purl.bioontology.org/ontology/MESH/C536690 http://purl.bioontology.org/ontology/MESH/C565262 |
| MDA |
20040707 |
| MMR |
20130708 |
| MN |
C10.668.491.175.500.074 C16.320.577.074 C05.651.534.500.074 |
| notation |
D049310 |
| prefLabel |
Distal Myopathies |
| TERMUI |
T582258 T841862 T812120 T582275 T812119 T812117 T812122 T369179 T582274 T843573 T582260 T582259 T841861 T843572 T803946 T843571 T812116 T582266 T812118 T842589 T582273 |
| TH |
NLM (2000) ORD (2010) NLM (2005) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |