Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Fraser syndrome
Synonyms	cryptophthalmos with other malformations
Definitions	A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
ID	http://purl.obolibrary.org/obo/DOID_0090001
database_cross_reference	OMIM:PS219000 ORDO:2052 ICD10CM:Q87.0 MESH:D058497 GARD:6465
definition	A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
has exact synonym	cryptophthalmos with other malformations
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0090001
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Fraser syndrome
notation	DOID:0090001
prefLabel	Fraser 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/MESH/D058497	Medical Subject Headings	LOOM
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118436	National Cancer Institute Thesaurus	LOOM