| Metadata | |
|---|---|
| ID | DOID:0111510 |
| Name | Marshall syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/13520885, https://www.ncbi.nlm.nih.gov/pubmed/25073711, https://www.ncbi.nlm.nih.gov/pubmed/9529347 |
| Xrefs |
SNOMEDCT_US_2023_03_01:33410002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deafness, myopia, cataract, saddle nose-Marshall type [EXACT] MRSHS [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia |