Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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
 broad_synonym: NFIX-RELATED CONDITION
 primary_id: MESH:C536026
 alt_id: OMIM:602535
 xref: GARD:6985;   ORDO:561

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643 		JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chrNW_004624901:684,313...686,488
Ensembl chrNW_004624901:684,966...685,652 		JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100 		JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chrNW_004624901:658,861...676,322
Ensembl chrNW_004624901:659,977...676,322 		JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar Annotator: match by term: NFIX-related condition OMIM
ClinVar		 PMID:8910820 PMID:9536098 PMID:9717599 PMID:16086394 PMID:16199547 More... NCBI chrNW_004624901:551,277...645,435
Ensembl chrNW_004624901:550,931...646,417 		JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Marshall-Smith syndrome ClinVar PMID:20673863 PMID:23495138 PMID:25118028 PMID:25736188 PMID:26927468 More... NCBI chrNW_004624901:650,444...659,921
Ensembl chrNW_004624901:650,202...660,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    syndrome 9252
      Marshall-Smith syndrome 6
Path 2
Term Annotations click to browse term
  disease 15960
    Developmental Disease 15901
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15853
        genetic disease 15841
          monogenic disease 9375
            autosomal genetic disease 8705
              septooptic dysplasia 16
                Marshall-Smith syndrome 6
paths to the root