Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023

Preferred Name	Goldberg-Shprintzen syndrome
Synonyms	Goldberg-Shprintzen megacolon syndrome
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0060481
database_cross_reference	MESH:C537279 GARD:9849 SNOMEDCT_US_2022_09_01:717822006 OMIM:609460 UMLS_CUI:C1836123 ORDO:66629
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.
has exact synonym	Goldberg-Shprintzen megacolon syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0060481
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Goldberg-Shprintzen syndrome
notation	DOID:0060481
prefLabel	Goldberg-Shprintzen syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050737

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/609460	Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库	LOOM