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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:Marshall-Smith syndrome
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Accession:DOID:0050858 term browser browse the term
Definition:A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)
Synonyms:exact_synonym: MRSHSS
 primary_id: MESH:C536026;   RDO:0001438
 alt_id: OMIM:602535
 xref: GARD:6985;   ORDO:561
For additional species annotation, visit the Alliance of Genome Resources.


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Marshall-Smith syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,774,146...25,775,670
Ensembl chr19:25,774,143...25,775,659
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,815,207...25,818,074
Ensembl chr19:25,815,207...25,818,074
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marshall-Smith syndrome
ClinVar Annotator: match by OMIM:602535
OMIM
ClinVar
PMID:8910820, PMID:9717599, PMID:16086394, PMID:20673863, PMID:22301465, PMID:24924640, PMID:25118028, PMID:25356970, PMID:25741868, PMID:26193383, PMID:26200704, PMID:28475857, PMID:28492532, PMID:29897170 NCBI chr19:25,818,640...25,914,777
Ensembl chr19:25,821,780...25,914,696
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:28492532 NCBI chr19:25,798,262...25,813,458
Ensembl chr19:25,803,262...25,813,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Marshall-Smith syndrome 6
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              septooptic dysplasia 13
                Marshall-Smith syndrome 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.