WormMine: DiseaseOntology DOID:0111510 Marshall syndrome Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• 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.

1 Ontology

• Name: Disease Ontology

4 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:225	syndrome	A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:2121	ectodermal dysplasia	A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
DOID:0111510	Marshall syndrome	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.

3 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:2121	DOID:0111510
is_a	DOID:225	DOID:0111510
is_a	DOID:4	DOID:0111510

2 Synonyms

• Name: deafness, myopia, cataract, saddle nose-Marshall type
• Type: synonym

• Name: MRSHS
• Type: synonym