Statements in which the resource exists as a subject.
PredicateObject
rdf:type
calbc:hasCorrelation
skos:exactMatch
skos:definition
MSH: An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4),CSP: autosomal recessively inherited glycogen storage disease caused by glucan 1,4-alpha-glucosidase deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile form is fatal in infancy and presents wit
skos:inScheme
skos:broader
skos:narrower
skos-xl:prefLabel
skos-xl:altLabel
umls-label:A0062652, umls-label:A0064140, umls-label:A0064164, umls-label:A0064172, umls-label:A0103500, umls-label:A0103501, umls-label:A0103502, umls-label:A0319075, umls-label:A0385965, umls-label:A0385974, umls-label:A0415371, umls-label:A0415670, umls-label:A0415680, umls-label:A0428527, umls-label:A0443545, umls-label:A0447649, umls-label:A11931670, umls-label:A11931671, umls-label:A11946047, umls-label:A11946048, umls-label:A11946049, umls-label:A11965104, umls-label:A12003481, umls-label:A12017511, umls-label:A1302243, umls-label:A1302563, umls-label:A1305689, umls-label:A1306689, umls-label:A13286396, umls-label:A1624841, umls-label:A1624842, umls-label:A1631808, umls-label:A1631809, umls-label:A1648601, umls-label:A1648602, umls-label:A16994406, umls-label:A17002630, umls-label:A17008129, umls-label:A17008130, umls-label:A17010864, umls-label:A17683465, umls-label:A17893307, umls-label:A17893309, umls-label:A17893310, umls-label:A17917704, umls-label:A17917705, umls-label:A17941523, umls-label:A17941526, umls-label:A17965614, umls-label:A17989672, umls-label:A18013456, umls-label:A18061500, umls-label:A18430121, umls-label:A18554558, umls-label:A18554559, umls-label:A18610248, umls-label:A18628811, umls-label:A18647451, umls-label:A18647452, umls-label:A18647453, umls-label:A18666012, umls-label:A18684452, umls-label:A1926634, umls-label:A1933320, umls-label:A20901394, umls-label:A20901395, umls-label:A20903254, umls-label:A20905176, umls-label:A20907098, umls-label:A20907099, umls-label:A20907100, umls-label:A20909014, umls-label:A20909015, umls-label:A20910851, umls-label:A20914560, umls-label:A20914561, umls-label:A20914562, umls-label:A8352787
umls:relation
More...