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Metadata
DOID DOID:0050780
Name Opitz-GBBB syndrome
Definition A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
http://www.genome.jp/dbget-bin/www_bget?ds:H00583, http://www.ncbi.nlm.nih.gov/books/NBK1327/, http://www.ncbi.nlm.nih.gov/books/NBK1523/, http://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb
Xrefs

KEGG:H00583

OMIM:145410

OMIM:300000

Subsets

DO_MGI_slim

Synonyms

Opitz G/BBB Syndrome [EXACT]

Relationships

is_a monogenic disease

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