MeSH Browser

MeSH Supplementary: Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy
Unique ID: C535642
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535642
Entry Term(s): Gapo Syndrome; Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy; Odontotrichomelic Syndrome; Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Heading Mapped to: *Alopecia; *Anodontia; *Growth Disorders; *Optic Atrophies, Hereditary
Frequency: 23
Note: A congenital syndrome characterized by slow or delayed growth, frontal bossing (unusually prominent forehead), MICROGNATHISM; failed tooth eruption, optic atrophy and severe hypotrichosis. It is caused by mutations in the anthrax toxin receptor 1 (ANTXR1) gene. OMIM: 230740
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy MeSH Supplementary Concept Data 2024