Visualize Submit Comment
Metadata
ID DOID:5325
Name Roberts syndrome
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.
https://ghr.nlm.nih.gov/condition/roberts-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/20101700
Xrefs

GARD:7387

MESH:C535687

NCI:C4681

OMIM:268300

ORDO:3103

SNOMEDCT_US_2023_03_01:48718006

UMLS_CUI:C0392475

Alternateids

DOID:0050536

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE [EXACT]

RBS [EXACT]

Roberts-Sc Phocomelia Syndrome [EXACT]

SC phocomelia syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker