loading...| Preferred Name | Autosomal Emery-Dreifuss Muscular Dystrophy | |
| Synonyms |
Hauptmann-Thannhauser Muscular Dystrophy Hauptmann Thannhauser Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy 2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Emery Dreifuss Muscular Dystrophy, Autosomal Dominant Autosomal Emery Dreifuss Muscular Dystrophy Scapuloilioperoneal Atrophy with Cardiopathy Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant Emery Dreifuss Muscular Dystrophy 2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Autosomal Dominant Emery Dreifuss Muscular Dystrophy |
|
| Definitions |
Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000083144 |
|
| altLabel |
Hauptmann-Thannhauser Muscular Dystrophy Hauptmann Thannhauser Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy 2 Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Emery Dreifuss Muscular Dystrophy, Autosomal Dominant Autosomal Emery Dreifuss Muscular Dystrophy Scapuloilioperoneal Atrophy with Cardiopathy Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant Emery Dreifuss Muscular Dystrophy 2 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant Autosomal Dominant Emery Dreifuss Muscular Dystrophy |
|
| 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 |
C5392234 C0410190 |
|
| DC |
1 |
|
| definition |
Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). |
|
| DX |
20210101 |
|
| HN |
2021 |
|
| 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 |
|
| Machine permutation |
2021 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567831 |
|
| MDA |
20200707 |
|
| MMR |
20200228 |
|
| MN |
C16.320.577.350.250 C10.668.491.175.500.350.250 C16.320.488.500 C05.651.534.500.350.250 |
|
| notation |
D000083144 |
|
| prefLabel |
Autosomal Emery-Dreifuss Muscular Dystrophy |
|
| TERMUI |
T812366 T582204 T582206 T812365 T001004896 T582205 T582207 T582203 |
|
| TH |
OMIM (2013) NLM (2005) NLM (2021) |
|
| tui |
T047 |
|
| subClassOf |