OBO ID: DOID:0080342
Term Name: Simpson-Golabi-Behmel syndrome type 2 Search Ontology:
Synonyms:
Definition: A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. https://www.ncbi.nlm.nih.gov/pubmed/16783569
References:
Ontology: Human Disease   ( DOID:0080342 )
OTHER Simpson-Golabi-Behmel syndrome type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OFD1 Simpson-Golabi-Behmel syndrome, type 2 300209
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None