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Goldberg-Shprintzen megacolon syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.
Uniprot Description A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease.
Disease Ontology Description A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Mondo Term and Equivalent IDs
MONDO:0012280:  Goldberg-Shprintzen megacolon syndrome
GARD:0009849: 
MESH:C537279: 
Orphanet:66629: 
SCTID:717822006: 
UMLS:C1836123: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4419

Tchem

829

Tdark

591

Tclin

369

Tbio

1810

Tchem

295

Tdark

181

Tclin

134

Tbio

698

Tchem

114

Tdark

105

Tclin

64

Tbio

668

Tchem

119

Tclin

54

Tdark

38

Tbio

123

Tchem

29

Tclin

8

Tdark

8

Tbio

88

Tclin

23

Tchem

22

Tdark

1

Tbio

61

Tchem

10

Tclin

4

Tdark

3

Tbio

56

Tclin

3

Tchem

2

Tdark

2

Children
Target Novelty (Tin-x)