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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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;   X-linked complicated hereditary spastic paraplegia type 1;   X-linked corpus callosum agenesis;   X-linked hydrocephalus syndrome;   X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas);   adducted thumb with mental retardation;   clasped thumb and mental retardation;   congenital clasped thumb with mental retardation;   hereditary spastic paraplegia 1
 primary_id: MESH:C536029
 alt_id: MIM:303350
 xref: GARD:6986;   NCI:C129930;   ORDO:2466


show annotations for term's descendants           Sort by:
MASA syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G L1cam L1 cell adhesion molecule ISO
ISS		 DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:924C>T(human)
DNA:deletion:exon:
OMIM:303350
ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 More... RGD:6483061, RGD:11064095, RGD:11570406 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      MASA syndrome 3
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          brain disease 11791
            disease of mental health 8376
              developmental disorder of mental health 5602
                specific developmental disorder 4599
                  intellectual disability 4379
                    MASA syndrome 3
paths to the root