Disease Browser
|
Parent Node: Cataract (D002386) | Parent Node: Muscular Dystrophies (D009136) | ..Starting node ..Alpha-B Crystallinopathy with Cataract (C563849)
| Child Nodes:
|
Sister Nodes: | ..Alpha-B Crystallinopathy with Cataract (C563849)
| ..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
| ..Bassoe syndrome (C537661)
| ..Bethlem myopathy (C535436)
| ..Distal Myopathies (D049310) 11
| ..Filaminopathy, autosomal dominant (C537932)
| ..Glycogen Storage Disease Type VII (D006014)
| ..Muscular Dystrophies, Limb-Girdle (D049288) 33
| ..Muscular dystrophy congenital, merosin negative (C537384)
| ..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
| ..Muscular Dystrophy, Barnes Type (C563558)
| ..Muscular Dystrophy, Cardiac Type (C563247)
| ..Muscular Dystrophy, Congenital, 1B (C565748)
| ..Muscular Dystrophy, Congenital, 1C (C564691)
| ..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
| ..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
| ..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
| ..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
| ..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
| ..Muscular Dystrophy, Congenital, Megaconial Type (C566527)
| ..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
| ..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
| ..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
| ..Muscular Dystrophy, Congenital, Type 1D (C563844)
| ..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
| ..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
| ..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
| ..Muscular Dystrophy, Duchenne (D020388) 1
| ..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
| ..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
| ..Muscular Dystrophy, Mabry Type (C564096)
| ..Muscular Dystrophy, Oculopharyngeal (D039141) 1
| ..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
| ..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
| ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
| ..Myopathy with Abnormal Lipid Metabolism (C562935)
| ..Myopathy, Myofibrillar, Desmin-Related (C563319)
| ..Myopathy, Myofibrillar, Zasp-Related (C563718)
| ..Myotonic Dystrophy (D009223) 1
| ..Oculopharyngodistal Myopathy (C563508)
| ..Rigid spine syndrome (C535683)
| ..Scleroatonic muscular dystrophy (C537521)
| ..Vacuolar Neuromyopathy (C566617)
| ..Walker-Warburg Syndrome (D058494) 7
|
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
|
|
|
Term ID: | 466 |
Name: | Alpha-B Crystallinopathy with Cataract |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002386|MESH:D009136 |
TreeNumbers: | C05.651.534.500/C563849 |C10.668.491.175.500/C563849 |C11.510.245/C563849 |C16.320.577/C563849 |
Synonyms: | Desmin-Related Myopathy with Cataract |
Slim Mappings: | Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease |
Reference: |
MedGen: C563849
MeSH: C563849
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
|