| Descriptor English: | Coffin-Lowry Syndrome | ||||
| Descriptor Spanish: |
Síndrome de Coffin-Lowry
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| Descriptor Portuguese: | Síndrome de Coffin-Lowry | ||||
| Descriptor French: | Syndrome de Coffin-Lowry | ||||
| Entry term(s): |
Coffin Lowry Syndrome Coffin Syndrome Mental Retardation with Osteocartilaginous Abnormalities Syndrome, Coffin Syndrome, Coffin-Lowry |
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| Tree number(s): |
C10.597.606.360.455.249 C16.320.322.500.249 C16.320.400.525.249 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D038921 | ||||
| Scope note: | A rare, X-linked INTELLECTUAL DISABILITY 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Mental Retardation/genetics (1975-2002) |
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| Public MeSH Note: | 2003 |
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| History Note: | 2003 |
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| Related: |
Ribosomal Protein S6 Kinases
MeSH | ||||
| DeCS ID: | 37283 | ||||
| Unique ID: | D038921 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2003/01/01 | ||||
| Date of Entry: | 2002/07/03 | ||||
| Revision Date: | 2018/06/30 |
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Coffin-Lowry Syndrome
- Preferred
| Concept UI |
M0417790 |
| Scope note | A rare, X-linked INTELLECTUAL DISABILITY 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. |
| Preferred term | Coffin-Lowry Syndrome |
| Entry term(s) |
Coffin Lowry Syndrome Coffin Syndrome Mental Retardation with Osteocartilaginous Abnormalities Syndrome, Coffin Syndrome, Coffin-Lowry |
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