Mondo Disease Ontology / Mondo疾病本体 - 46,XX testicular disorder of sex development | BMICC MedPortal Appliance

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Preferred Name	46,XX testicular disorder of sex development
Synonyms	46,XX testicular differences of sex development 46,XX testicular disorder of sex development XX Male, Sry-positive XX sex reversal 46,XX testicular disorders of Sex development De la Chapelle syndrome 46,XX testicular DSD 46, XX gonadal sex reversal XX, male syndrome XX male syndrome
Definitions	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
ID	http://purl.obolibrary.org/obo/MONDO_0100249
creator	https://orcid.org/0000-0001-5208-3432
database_cross_reference	MESH:D058531 Orphanet:393 GARD:0000399 DOID:0111760 UMLS:C2936419 UMLS:CN205000 NCIT:C127170 UMLS:C2748895
definition	46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.
exactMatch	http://identifiers.org/mesh/D058531 http://purl.obolibrary.org/obo/NCIT_C127170 http://purl.obolibrary.org/obo/Orphanet_393 http://linkedlifedata.com/resource/umls/id/C2936419 http://purl.obolibrary.org/obo/DOID_0111760 http://linkedlifedata.com/resource/umls/id/CN205000
has characteristic	http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym	46,XX testicular differences of sex development 46,XX testicular disorder of sex development 46,XX testicular disorders of Sex development De la Chapelle syndrome 46,XX testicular DSD XX, male syndrome
has_related_synonym	XX Male, Sry-positive XX sex reversal 46, XX gonadal sex reversal XX male syndrome
id	MONDO:0100249
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome
label	46,XX testicular disorder of sex development
notation	MONDO:0100249
prefLabel	46,XX testicular disorder of sex development
treeView	http://purl.obolibrary.org/obo/MONDO_0005372 http://purl.obolibrary.org/obo/MONDO_0017576
subClassOf	http://purl.obolibrary.org/obo/MONDO_0005372 http://purl.obolibrary.org/obo/MONDO_0017576
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0009299

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0100249	Experimental Factor Ontology / 实验性因素本体	LOOM
	http://purl.obolibrary.org/obo/MONDO_0100249	Experimental Factor Ontology / 实验性因素本体	SAME_URI