loading...| Preferred Name |
Myotonic Dystrophy |
|
| Synonyms |
Dystrophia Myotonica 2 |
|
| Definitions |
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009223 |
|
| altLabel |
Dystrophia Myotonica 2 Dystrophies, Myotonic PROMMs (Proximal Myotonic Myopathy) Myotonia Atrophica Dystrophicas, Myotonia Ricker Syndrome Dystrophy, Steinert Myotonic Steinerts Disease Myotonic Dystrophies, Congenital PROMM (Proximal Myotonic Myopathy) Myopathy, Proximal Myotonic Dystrophia Myotonica 2s Myotonic Dystrophies Dystrophia Myotonica Atrophica, Myotonia Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dystrophica, Myotonia Myotonia Dystrophica Dystrophy, Congenital Myotonic Proximal Myotonic Myopathy Disease, Steinert Myopathies, Proximal Myotonic Proximal Myotonic Myopathies Myotonicas, Dystrophia Myotonic Dystrophy 1 Myotonia Atrophicas Congenital Myotonic Dystrophy Myotonic Myopathies, Proximal Myotonic Dystrophy 2 Steinert's Disease Myotonia Dystrophicas Myotonic Myopathy, Proximal Disease, Steinert's Congenital Myotonic Dystrophies Steinert Disease Dystrophia Myotonicas Myotonic Dystrophy, Congenital Myotonic Dystrophy, Steinert Atrophicas, Myotonia Dystrophy, Myotonic Dystrophies, Congenital Myotonic Myotonica, Dystrophia Syndrome, Ricker |
|
| AN |
do not confuse with MUSCULAR DYSTROPHIES |
|
| AQL |
BL CF CI CL 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 VE VI |
|
| cui |
C2931689 C0027126 C0410226 |
|
| DC |
1 |
|
| definition |
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. |
|
| DX |
19660101 |
|
| FX |
D042622 D065636 D019680 |
|
| HN |
2000(1966) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D019680 |
|
| Machine permutation |
2000; see MYOTONIA ATROPHICA 1966-1999; for MYOTONIC DYSTROPHY see MYOTONIC ATROPHICA 1993-1999 |
|
| MDA |
19991108 |
|
| MMR |
20140620 |
|
| MN |
C05.651.662.750 C10.668.491.175.500.500 C05.651.534.500.500 C16.320.400.542 C10.574.500.547 C16.320.577.500 C10.668.491.606.750 |
|
| notation |
D009223 |
|
| prefLabel |
Myotonic Dystrophy |
|
| TERMUI |
T853140 T853143 T853139 T369252 T853142 T027495 T853141 T027497 T853144 T027498 T027496 T027494 T372487 T369251 T027499 T372486 T372488 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1993) NLM (1966) NLM (2015) NLM (1992) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009136 |