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

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)

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