Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	ring dermoid of cornea
Synonyms	ring dermoid syndrome
Definitions	A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
ID	http://purl.obolibrary.org/obo/DOID_0111548
database_cross_reference	GARD:9696 UMLS_CUI:C1867155 MESH:C535684 ORDO:91481 SNOMEDCT_US_2022_09_01:723499000 OMIM:180550
definition	A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25.
has exact synonym	ring dermoid syndrome RDC
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111548
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	ring dermoid of cornea
notation	DOID:0111548
prefLabel	ring dermoid of cornea
subClassOf	http://purl.obolibrary.org/obo/DOID_10124 http://purl.obolibrary.org/obo/DOID_0050736

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/180550	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C535684	Medical Subject Headings	LOOM