Visualize Submit Comment
Metadata
ID DOID:0060481
Name Goldberg-Shprintzen syndrome
Definition A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15883926, https://www.ncbi.nlm.nih.gov/pubmed/23427148
Xrefs

GARD:9849

MESH:C537279

OMIM:609460

ORDO:66629

SNOMEDCT_US_2023_03_01:717822006

UMLS_CUI:C1836123

Subsets

DO_rare_slim

Synonyms

Goldberg-Shprintzen megacolon syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker