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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:560
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Marshall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:1600881
RGD:8554872
RGD:11554173
RGD:7240710
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      ectodermal dysplasia 252
        Marshall syndrome 1
          Marshall/Stickler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  sensorineural hearing loss 460
                    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.