|
DOID:5325 - Roberts syndrome
Disease Ontology Definition:A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1.
Synonyms: LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE, RBS, Roberts-Sc Phocomelia Syndrome, SC phocomelia syndrome
Xenbase Genes
:
esco2
| MONDO:0009997 - obsolete Roberts syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)