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ONTOLOGY REPORT - ANNOTATIONS


Term:MASA syndrome
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Accession:DOID:0060246 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO)
Synonyms:exact_synonym: Crash syndrome;   Gareis-Mason syndrome;   L1 syndrome;   MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome;   Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA);   Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs;   SPASTIC PARAPLEGIA 1, X-LINKED;   Spastic paraplegia, type 1;   Spg1;   Thumb, congenital clasped, with mental retardation;   X-linked complicated hereditary spastic paraplegia type 1;   X-linked corpus callosum agenesis;   X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas);   adducted thumb with mental retardation;   clasped thumb and mental retardation;   hereditary spastic paraplegia 1
 primary_id: MESH:C536029
 alt_id: OMIM:303350;   RDO:0001441
 xref: GARD:6986;   ORDO:2466
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MASA syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G L1cam L1 cell adhesion molecule JBrowse link X 156,901,244 156,928,064 RGD:6483061
RGD:7240710
RGD:8554872
RGD:11554173
RGD:11064095
RGD:11570406

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Path 1
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  disease 14759
    syndrome 4210
      MASA syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    MASA syndrome 1
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