Marshall syndrome
Information
- Disease name
- Marshall syndrome
- Disease ID
- DOID:0111510
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/13520885, url:https\://www.ncbi.nlm.nih.gov/pubmed/25073711, url:https\://www.ncbi.nlm.nih.gov/pubmed/9529347]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2121
- Cross Reference ID (Disease Ontology)
- GARD:6984
- Cross Reference ID (Disease Ontology)
- MESH:C536025
- Cross Reference ID (Disease Ontology)
- MIM:154780
- Cross Reference ID (Disease Ontology)
- NCI:C128115
- Cross Reference ID (Disease Ontology)
- ORDO:560
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:33410002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265235
- Exact Synonym (Disease Ontology)
- deafness, myopia, cataract, saddle nose-Marshall type
- Exact Synonym (Disease Ontology)
- MRSHS
- OrphaNumber from OrphaNet (Orphanet)
- 560
- MedGen concept unique identifier (MedGen Concept name)
- C0265235
- MedGen unique identifier (MedGen Concept name)
- 82694