Terminology Service for NFDI4Health
Type I Acrocephalosyndactyly
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http://purl.obolibrary.org/obo/NCIT_C99099
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. [ ]
Term info
Label
Type I Acrocephalosyndactyly
Synonyms
- Acrocephalosyndactyly Type I
- Apert Syndrome
- Type I Acrocephalosyndactyly
Subsets
NCIT_C90259, NCIT_C99147
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C34348
NICHD Hierarchy Term
Type I Acrocephalosyndactyly
Preferred Name
Type I Acrocephalosyndactyly
Semantic Type
Congenital Abnormality
UMLS CUI
C0001193
code
C99099