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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 syndrome
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Accession:DOID:0111510 term browser browse the term
Definition:An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome. (DO)
Synonyms:exact_synonym: Deafness, myopia, cataract, saddle nose-Marshall type;   MRSHS
 primary_id: MESH:C536025
 alt_id: OMIM:154780
 xref: GARD:6984;   NCI:C128115;   ORDO:560
For additional species annotation, visit the Alliance of Genome Resources.


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Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by OMIM:154780
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9129742 PMID:9529347 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32963807, PMID:9529347 RGD:1600881 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      ectodermal dysplasia 252
        Marshall syndrome 1
          Marshall/Stickler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          Otorhinolaryngologic Diseases 1158
            auditory system disease 744
              Hearing Disorders 604
                Hearing Loss 600
                  sensorineural hearing loss 490
                    Marshall syndrome 1
                      Marshall/Stickler Syndrome 1
paths to the root