About: diaphyseal medullary stenosis-bone malignancy syndrome

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About: diaphyseal medullary stenosis-bone malignancy syndrome Goto Sponge NotDistinct Permalink

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

human disease

Attributes	Values
rdf:type	Item
owl:sameAs	diaphyseal medullary stenosis-bone malignancy syndrome
description	human disease (en) хвороба людини (uk)
exact match	wds:Q55780373-3E84DB8D-F281-4597-B51D-990F9C8B7F56 wds:Q55780373-A0E32C00-DFE2-4283-82EA-A2C8910371D5 wds:Q55780373-E73B174F-ABDE-42D6-BE0D-9F983EC727ED
exact match	http://purl.obolibrary.org/obo/DOID_0080664 http://identifiers.org/doid/DOID:0080664 http://www.orpha.net/ORDO/Orphanet_85182
Mondo ID	wds:Q55780373-50BC097C-1229-4FA4-937A-78FA122D33B6
Disease Ontology ID	wds:Q55780373-E7E86A53-9FE1-4E07-AA9B-3E9149CF93A1
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007205
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080664
Mondo ID	MONDO_0007205
Disease Ontology ID	DOID:0080664
rdfs:label	syndrome de sténose médullaire diaphysaire-tumeur osseuse (fr) diaphyseal medullary stenosis-bone malignancy syndrome (en) متلازمة هارد كاسل (ar)
skos:prefLabel	syndrome de sténose médullaire diaphysaire-tumeur osseuse (fr) diaphyseal medullary stenosis-bone malignancy syndrome (en) متلازمة هارد كاسل (ar)
name	syndrome de sténose médullaire diaphysaire-tumeur osseuse (fr) diaphyseal medullary stenosis-bone malignancy syndrome (en) متلازمة هارد كاسل (ar)
instance of	wds:Q55780373-14BD9423-F360-4285-B8E8-B7DDD361201C wds:Q55780373-C9565053-40CB-47B3-82B4-4EAB292091C9 wds:Q55780373-FEA6896C-5008-415A-BB2A-235E733BF71C
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55780373-03921C96-0453-4EE1-B77C-6CC2298BDA33 wds:Q55780373-4732827F-863D-42CC-9825-72796917A29A wds:Q55780373-F13D5B2B-127A-488D-8C43-A3002D315861 wds:Q55780373-FF95A51B-FCBA-4037-BB75-CA43715C2704
subclass of	primary bone dysplasia with increased bone density autosomal dominant disease multiple epiphyseal dysplasia inherited syndrome with bone tumors as a major feature
Google Knowledge Graph ID	wds:Q55780373-AC251324-F72E-4D75-8060-C45517341868
Google Knowledge Graph ID	http://g.co/kg/g/11h3vbfj7w
Google Knowledge Graph ID	/g/11h3vbfj7w
UniProt disease ID	wds:Q55780373-d5b2c718-435b-7ded-480a-433a32a8f708
Orphanet ID	wds:Q55780373-21DB3F48-13B8-45C5-A972-7A2BCA5B5F9A
genetic association	wds:Q55780373-96378A15-BD4E-436E-8222-DBABE9F733E2
ICD-10-CM	wds:Q55780373-33976795-7B40-4D27-BA52-5303FF07086A
GARD rare disease ID	wds:Q55780373-425B6498-5E8A-4F9F-A0C3-F6FA0B84C2C3
OMIM ID	wds:Q55780373-432B11EC-2982-49D1-BB08-ECF195383440
UniProt disease ID	DI-03464
Orphanet ID	85182
genetic association	MTAP
ICD-10-CM	M89.8
GARD rare disease ID	10072
OMIM ID	112250
skos:altLabel	DMSMFH (en) DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA (en) Bone Dysplasia With Malignant Fibrous Histiocytoma (en) Bone Dysplasia With Medullary Fibrosarcoma (en) Bone dysplasia-medullary fibrosarcoma syndrome (en) Hardcastle syndrome (en) DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA; DMSMFH (en) Myopathy, Limb-Girdle, With Bone Fragility (en) Syndrome de Hardcastle (fr) diaphyseal medullary stenosis with malignant fibrous histiocytoma (en) Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome (en)
NCI Thesaurus ID	wds:Q55780373-1C4925FA-BD2A-436B-A1D6-3D765864185D
UMLS CUI	wds:Q55780373-0DA02B72-8593-4D3A-998C-910B6D63C253 wds:Q55780373-E8D3141B-F33A-4BAB-8949-A89E1E297273
MeSH descriptor ID	wds:Q55780373-8772FA6A-0CB9-40D4-8F0A-704B87A3EEA1
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536169
NCI Thesaurus ID	C122660
UMLS CUI	C1300202 C1862177
MeSH descriptor ID	C536169
is owl:sameAs of	diaphyseal medullary stenosis-bone malignancy syndrome diaphyseal medullary stenosis-bone malignancy syndrome
is about of	diaphyseal medullary stenosis-bone malignancy syndrome https://www.wikidata.org/wiki/Special:EntityData/Q55780373 Hardcastle syndrome https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D9%87%D8%A7%D8%B1%D8%AF_%D9%83%D8%A7%D8%B3%D9%84
is main subject of	Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22 Diaphyseal medullary stenosis (sclerosis) with bone malignancy (malignant fibrous histiocytoma): Hardcastle syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue Total knee arthroplasty in a patient with Hardcastle syndrome
is main subject of	wds:Q71467967-EBB9A0EF-1812-4270-A24C-B4B7E5800F7A wds:Q34389142-1828454C-C543-48E5-8D4E-9E18A3F1C318 wds:Q77538127-6B461FC3-AD30-4834-B4E2-73F5C78F0CE9 wds:Q84996324-CAE4F38F-62EC-48AF-AE1C-03FF0EAD2FF3
is genetic association of	MTAP
is genetic association of	wds:Q18029503-AA750325-80E5-415A-A19F-80178952B125
is established from medical condition of	GM23612 GM23613 GM23622 GM23623 GM23614 GM23610 GM23611 GM23468
is established from medical condition of	wds:Q54853152-6CEFDB36-8860-44D8-A70C-162F25052D5C wds:Q54853160-3BFA5576-A8E8-482D-B9D2-612F71139322

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