loading...| Preferred Name | Laminopathies | |
| Synonyms |
Disease, LMNA-Associated Disease, LMNA-Linked Laminopathy LMNA Linked Diseases LMNA-Associated Diseases LMNA-Linked Diseases LMNA-Associated Disease LMNA-Linked Disease LMNA Associated Diseases |
|
| Definitions |
Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000083083 |
|
| altLabel |
Disease, LMNA-Associated Disease, LMNA-Linked Laminopathy LMNA Linked Diseases LMNA-Associated Diseases LMNA-Linked Diseases LMNA-Associated Disease LMNA-Linked Disease LMNA Associated Diseases |
|
| 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 |
C5392094 |
|
| DC |
1 |
|
| definition |
Congenital neuromuscular and muscular dystrophy diseases associated with mutations in the LAMIN TYPE A (Lamin A/C or LMNA gene). It includes CARDIOMYOPATHY, DILATED, 1A; CHARCOT-MARIE-TOOTH DISEASE, type 2B1; EMERY-DREIFUSS MUSCULAR DYSTROPHY, types 2 and 3; HUTCHINSON-GILFORD PROGERIA SYNDROME; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; Malouf syndrome; Mandibuloacral dysplasia; LMNA-related muscular dystrophy; Restrictive dermopathy, lethal; Heart-hand syndrome, Slovenian type. |
|
| 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/C535852 http://purl.bioontology.org/ontology/MESH/C537990 |
|
| MDA |
20200707 |
|
| MMR |
20200228 |
|
| MN |
C16.320.488 |
|
| notation |
D000083083 |
|
| prefLabel |
Laminopathies |
|
| TERMUI |
T001004862 T001004861 T001004601 |
|
| TH |
NLM (2021) |
|
| tui |
T047 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MSHFRE/D000083083 | MSHFRE | CUI | |
| http://id.nlm.nih.gov/mesh/D000083083 | MDM | LOOM |