FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Marshall syndrome ID (Ontology) DOID:0111510 (Human Disease)
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 the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome.
Also Known As "deafness, myopia, cataract, saddle nose-Marshall type" ; "MRSHS"
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 Genes
 Marshall syndrome       1
 for disease ribbon | Marshall syndrome       1
 model of | Marshall syndrome       1
Spanning Tree (Parents/Children)
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  syndrome
   |__ectodermal dysplasia
       |__Marshall syndrome  1 rec.
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Is a ectodermal dysplasia
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Synonyms
  • "deafness, myopia, cataract, saddle nose-Marshall type" EXACT
    "MRSHS" EXACT OMO:0003012
Secondary IDs
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GARD:6984
MESH:C536025
MIM:154780
NCI:C128115
ORDO:560
SNOMEDCT_US_2023_03_01:33410002
UMLS_CUI:C0265235