Disease Information for Schwartz-Jampel syndrome: Disease Mechanism & Classification

Ads
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
CLASS/Bone disorder (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus 1p36.1
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Sodium-channel muscle disorder
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Potassium muscle deficiency
Pathophysiology/Faulty tubularization long bones
Pathophysiology/Metaphysis dysplasia/dysostosis
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Disease with two subtypes
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dwarfism/miscellaneous skeletal dis (ex)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Dysplasia disorder/Syndromes (ex)
Ads