46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. [ Orphanet:243 ]
Synonyms: 46,XX pure gonadal dysgenesis XX female gonadal dysgenesis hypergonadotropic ovarian dysgenesis 46,XX gonadal dysgenesis 46,XX complete gonadal dysgenesis FSH-RO XX-GD follicular stimulating hormone-resistant ovaries 46,XX ovarian dysgenesis
Term information
- Orphanet:243 (OMIM:233300)
- NANDO:2200384 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0685837 (MONDO:equivalentTo)
- icd11.foundation:1742528605 (https://orcid.org/0000-0001-5208-3432)
- NCIT:C120197 (MONDO:equivalentTo)
- SCTID:95198001 (MONDO:equivalentTo)
- DOID:14450 (MONDO:equivalentTo)
- MEDGEN:146899 (MONDO:equivalentTo)
- GARD:5671 (MONDO:GARD)
- OMIMPS:233300 (MONDO:equivalentTo)
- MESH:D023961 (Orphanet:243/e)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/NCIT_C120197
http://identifiers.org/snomedct/95198001
http://identifiers.org/mesh/D023961
http://identifiers.org/medgen/146899
http://purl.obolibrary.org/obo/DOID_14450
https://omim.org/phenotypicSeries/PS233300
http://linkedlifedata.com/resource/umls/id/C0685837
http://www.orpha.net/ORDO/Orphanet_243