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Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Alopecia
*Anodontia
*Growth Disorders
*Optic Atrophies, Hereditary
Frequency
21
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 Preferred
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