About: osteosclerosis-ichthyosis-premature ovarian failure syndrome

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About: osteosclerosis-ichthyosis-premature ovarian failure syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.

Attributes	Values
rdf:type	Item
description	This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. (en)
exact match	wds:Q55783715-0ECD753A-0384-4D13-B875-5236C5C07C39
exact match	http://www.orpha.net/ORDO/Orphanet_75325
Mondo ID	wds:Q55783715-ECE0BB62-80EB-4DD3-8664-0E1E50385B49
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012387
Mondo ID	MONDO_0012387
rdfs:label	osteosclerosis-ichthyosis-premature ovarian failure syndrome (en)
skos:prefLabel	osteosclerosis-ichthyosis-premature ovarian failure syndrome (en)
name	osteosclerosis-ichthyosis-premature ovarian failure syndrome (en)
instance of	wds:Q55783715-153A14EB-3A9C-47A6-ADFD-1AFE164F3B91 wds:Q55783715-DCF3DC58-B652-4C9E-A508-67E1A8F619EB
instance of	class of disease developmental defect during embryogenesis
subclass of	wds:Q55783715-1B8A1E24-0563-45E9-BE57-B0D3BE5DF3C5 wds:Q55783715-34A7D048-BB4E-414B-B320-6049281D052F wds:Q55783715-B3C77B98-DA55-46AD-92B7-048EFD38F731 wds:Q55783715-F16A52A9-B1E0-4EBC-82C1-370EFC5F23FC
subclass of	primary bone dysplasia with increased bone density autosomal ichthyosis syndrome with other associated signs rare female infertility due to an anomaly of ovarian function of genetic origin non-acquired premature ovarian failure
Orphanet ID	wds:Q55783715-4134D5BC-5811-4FB4-9426-C58C44ED23C2
OMIM ID	wds:Q55783715-B937E724-F679-4DD7-96FD-61E0BAC6CF5D
Orphanet ID	75325
OMIM ID	609993
skos:altLabel	Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome (en) OSTEOSCLEROSIS WITH ICHTHYOSIS AND PREMATURE OVARIAN FAILURE (en) Sclerosing Dysplasia of Bone With Ichthyosis and Premature Ovarian Failure (en)
UMLS CUI	wds:Q55783715-1AB92ABC-D408-4E86-A1F0-D0F6BDD4AD52 wds:Q55783715-49240775-6096-4174-9061-6926C02AE91F
MeSH descriptor ID	wds:Q55783715-29229B4A-8EC9-423A-81CC-A5D0A6648F14
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536064
UMLS CUI	C1864942 C4302815
MeSH descriptor ID	C536064
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783715

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