Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
17 results
  1. Oral-Facial-Digital Syndrome Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1188
    ... B. OMIM Entries for Oral-Facial-Digital Syndrome Type I ( View All in OMIM ) View in own window 300170 OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 311200 OROFACIODIGITAL SYNDROME I; OFD1 Gene structure. OFD1 has 23 exons (reference sequence NM_003611.2 ) and is located on ...
  2. Oral-facial-digital syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome
    ... OROFACIODIGITAL SYNDROME V; OFD5 OROFACIODIGITAL SYNDROME VII; ... B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar; ...
  3. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... Hoffman LA, et al. Midline defects of the orofaciodigital syndrome type VI (Varadi syndrome). Cleft Palate Craniofac J. 1994 ... analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J. 2007 Nov; 44 ( ...
  4. OFD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ofd1
    ... the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum ...
  5. pdf1-20-1969-70.pdf 
    https://www.nlm.nih.gov/.../nlmarchives/techbull/1-20-1969-70.pdf
    ... current batch mode as it is from "manual" reference methods. Each type of searching the literature offers advantages not possible ...
  6. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... et al [2001] 3. Oral-facial-digital syndrome type 1 is caused by pathogenic variants in OFD1 ; see Phenotypic Series: Orofaciodigital syndrome for other genes associated with this phenotype in ...
  7. pdf2017MeshTreesWithChangesShown.pdf 
    https://www.nlm.nih.gov/.../2017MeshTreesWithChangesShown.pdf
    ... of Jadassohn Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Orofaciodigital ... 450 Type New Tree C16.131.077.717.510 MeSH ...
  8. Polymicrogyria Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1329
    ... Associated with PMG View in own window Disorder Reference ( GeneReview or OMIM) Classic nonketotic hyperglycinemia Classic Nonketotic Hyperglycinemia Fumaric aciduria 1 OMIM 136850 Glutaric acidemia type II Multiple Acyl-CoA Dehydrogenase Deficiency Histidinemia OMIM ...
  9. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Hierarchy Tree location C05.116.099.370.652...........................................Orofaciodigital Syndromes C05.116.099.370.797...........................................Rubinstein-Taybi Syndrome ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... other_name >Orodigitofacial syndrome</other_name><other_name >Orofaciodigital syndrome</other_name></other_names></topic><topic ><url >https:// ...
previous · 1 · 2 · next