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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: DOID:9005090;   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:19449424, PMID:21035103, PMID:21668896, PMID:25240749, PMID:25741868, 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 16103
    syndrome 6989
      ectodermal dysplasia 250
        Marshall syndrome 1
          Marshall/Stickler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          Otorhinolaryngologic Diseases 1185
            auditory system disease 754
              Hearing Disorders 613
                Hearing Loss 608
                  sensorineural hearing loss 487
                    Marshall syndrome 1
                      Marshall/Stickler Syndrome 1
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.