National Library of Medicine - Medical Subject Headings

2003 MeSH

MeSH Descriptor Data

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Coffin-Lowry Syndrome
MeSH HeadingCoffin-Lowry Syndrome
Tree NumberC10.597.606.643.455.249
Tree NumberC16.320.322.500.249
Tree NumberC16.320.400.525.249
Scope NoteA rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UL UR US VE VI
Previous Indexing Mental Retardation/genetics (1975-2002)
History Note2003
Unique IDD038921


MeSH Tree Structures

 
Nervous System Diseases [C10]
   Neurologic Manifestations [C10.597]
      Neurobehavioral Manifestations [C10.597.606]
         Mental Retardation [C10.597.606.643]
            Mental Retardation, X-Linked [C10.597.606.643.455]
Adrenoleukodystrophy [C10.597.606.643.455.124]
Coffin-Lowry Syndrome [C10.597.606.643.455.249]
Fragile X Syndrome [C10.597.606.643.455.500]
Lesch-Nyhan Syndrome [C10.597.606.643.455.625]
Menkes Kinky Hair Syndrome [C10.597.606.643.455.687]
Mucopolysaccharidosis II [C10.597.606.643.455.750]
Pyruvate Dehydrogenase Complex Deficiency Disease [C10.597.606.643.455.875]
Rett Syndrome [C10.597.606.643.455.937]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Genetic Diseases, X-Linked [C16.320.322]
         Mental Retardation, X-Linked [C16.320.322.500]
Adrenoleukodystrophy [C16.320.322.500.124]
Coffin-Lowry Syndrome [C16.320.322.500.249]
Fragile X Syndrome [C16.320.322.500.500]
Lesch-Nyhan Syndrome [C16.320.322.500.625]
Menkes Kinky Hair Syndrome [C16.320.322.500.687]
Mucopolysaccharidosis II [C16.320.322.500.750]
Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.322.500.875]
Rett Syndrome [C16.320.322.500.937]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Heredodegenerative Disorders, Nervous System [C16.320.400]
         Mental Retardation, X-Linked [C16.320.400.525]
Adrenoleukodystrophy [C16.320.400.525.124]
Coffin-Lowry Syndrome [C16.320.400.525.249]
Fragile X Syndrome [C16.320.400.525.500]
Lesch-Nyhan Syndrome [C16.320.400.525.625]
Menkes Kinky Hair Syndrome [C16.320.400.525.687]
Mucopolysaccharidosis II [C16.320.400.525.750]
Pyruvate Dehydrogenase Complex Deficiency Disease [C16.320.400.525.875]
Rett Syndrome [C16.320.400.525.937]

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