MeSH Browser

MeSH Supplementary: Microphthalmia, syndromic 7
Unique ID: C537466
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537466
Entry Term(s): Linear skin defects with multiple congenital anomalies 1; MCOPS7; Microphthalmia with Linear Skin Defects Syndrome; Microphthalmia with Linear Skin Lesions Syndrome; Microphthalmia with linear skin defects; Microphthalmia, dermal aplasia, and sclerocornea; Midas Syndrome; Syndromic Microphthalmia-7
Registry Number: 0
Heading Mapped to: *Microphthalmos; *Skin Abnormalities; *Genetic Diseases, X-Linked
Frequency: 20
Note: An X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects limited to the face and neck and consisting of areas of aplastic skin that heal with age to form hyperpigmented areas in affected females; affected males dies in utero. Mutations in the HCCS gene have been identified. OMIM: 309801
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

Microphthalmia, syndromic 7 MeSH Supplementary Concept Data 2024