Biomaterial Database

[Skeletal abnormalities in storage diseases (author's transl)]. 1979

T Orii

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D009081	Mucolipidoses	A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)	Cherry Red Spot Myoclonus Syndrome,Ganglioside Sialidase Deficiency Disease,I-Cell Disease,Lipomucopolysaccharidosis,Mucolipidosis,Myoclonus Cherry Red Spot Syndrome,Pseudo-Hurler Polydystrophy,Sialidosis,Cherry Red Spot-Myoclonus Syndrome,Deficiency Disease, Ganglioside Sialidase,Glycoprotein Neuraminidase Deficiency,Inclusion Cell Disease,Mucolipidosis I,Mucolipidosis II,Mucolipidosis III,Mucolipidosis III Alpha Beta,Mucolipidosis IIIa,Mucolipidosis IV,Mucolipidosis Type 1,Mucolipidosis Type I,Mucolipidosis Type II,Mucolipidosis Type III,Mucolipidosis Type IV,Myoclonus-Cherry Red Spot Syndrome,Psuedo-Hurler Disease,Sialolipidosis,Type I Mucolipidosis,Type II Mucolipidosis,Type III Mucolipidosis,Type IV Mucolipidosis,Deficiencies, Glycoprotein Neuraminidase,Deficiency, Glycoprotein Neuraminidase,Glycoprotein Neuraminidase Deficiencies,I Cell Disease,I-Cell Diseases,Inclusion Cell Diseases,Lipomucopolysaccharidoses,Mucolipidoses, Type I,Mucolipidoses, Type II,Mucolipidoses, Type III,Mucolipidoses, Type IV,Mucolipidosis, Type I,Mucolipidosis, Type II,Mucolipidosis, Type III,Mucolipidosis, Type IV,Polydystrophy, Pseudo-Hurler,Pseudo Hurler Polydystrophy,Psuedo Hurler Disease,Psuedo-Hurler Diseases,Sialidoses,Sialolipidoses,Type I Mucolipidoses,Type II Mucolipidoses,Type III Mucolipidoses,Type IV Mucolipidoses
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001842	Bone and Bones	A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.	Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
D001848	Bone Diseases, Developmental	Diseases resulting in abnormal GROWTH or abnormal MORPHOGENESIS of BONES.	Bone Dysplasias,Developmental Bone Disease,Bone Disease, Developmental,Bone Dysplasia,Developmental Bone Diseases,Dysplasia, Bone,Dysplasias, Bone
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis