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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

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

645

Tchem

113

Tdark

111

Tclin

58

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

122

Tchem

30

Tdark

9

Tclin

7

Tbio

89

Tchem

21

Tclin

20

Tdark

1

Tbio

55

Tclin

3

Tchem

2

Tdark

2

Children
Target Novelty (Tin-x)