About: hypophosphatemic nephrolithiasis/osteoporosis 1

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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
description	Krankheit (de) Human disease (en) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q21505506-573F1716-C195-48D4-A752-7DDA0B279DD9 wds:Q21505506-8B6F706E-8EA6-4A6C-B71F-84E8FF0E0129 wds:Q21505506-E2AAA800-87A1-4145-8A4F-C236CD0A02BC
exact match	http://purl.obolibrary.org/obo/DOID_0080077 http://identifiers.org/doid/DOID:0080077 http://www.orpha.net/ORDO/Orphanet_244305
Mondo ID	wds:Q21505506-E609822B-5025-436C-9A43-8C8A47B67A9B
Disease Ontology ID	wds:Q21505506-37880093-6DD7-436D-A133-4D40F07DCADD
symptoms and signs	wds:Q21505506-db11c282-48b7-ea42-08c8-abb30cff8895
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012850
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0080077
Mondo ID	MONDO_0012850
Disease Ontology ID	DOID:0080077
symptoms and signs	hyperphosphatemia
rdfs:label	hypophosphatemic nephrolithiasis/osteoporosis 1 (en) hypophosphatémie dominante avec néphrolithiase ou ostéoporose 1 (fr)
skos:prefLabel	hypophosphatemic nephrolithiasis/osteoporosis 1 (en) hypophosphatémie dominante avec néphrolithiase ou ostéoporose 1 (fr)
name	hypophosphatemic nephrolithiasis/osteoporosis 1 (en) hypophosphatémie dominante avec néphrolithiase ou ostéoporose 1 (fr)
instance of	wds:Q21505506-4E1EF236-14CD-464C-B34F-093C17988D0B wds:Q21505506-FDF3890E-BECD-4E5C-A171-7BCD80732919
instance of	class of disease rare disease
subclass of	wds:Q21505506-042F0CB3-0797-40D1-B899-845FC9F3DA5E wds:Q21505506-7e4f03e3-4b4d-7d90-14c8-5b7fb0df5000 wds:Q21505506-ee15f08f-4f60-3ccc-3afb-70b214c118a4
subclass of	impaired renal function disease familial hypophosphatemia hypophosphatemic nephrolithiasis/osteoporosis
UniProt disease ID	wds:Q21505506-8c978d58-48f6-fac0-d7ff-e86bac072681
Orphanet ID	wds:Q21505506-d0c51141-4144-1d07-4f9d-449c632b24b4
genetic association	wds:Q21505506-1A257DA3-874B-4ECD-B5EC-B9D405101FAE
OMIM ID	wds:Q21505506-034E10B6-D965-4515-A5A7-4F48C58CD2C4 wds:Q21505506-8B4424EF-916A-43BB-86DE-F1D88155B85D
UniProt disease ID	DI-01797
Orphanet ID	244305
genetic association	SLC34A1
OMIM ID	612286
skos:altLabel	NPHLOP1 (en) NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1; NPHLOP1 (en) hypophosphatemic nephrolithiasis/osteoporosis type 1 (en) Nephrolithiasis/Osteoporosis, Hypophosphatemic, type 1 (en) NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (en)
UMLS CUI	wds:Q21505506-5B18FA8D-4B0B-4D0F-B288-CA121A9CC221
MeSH descriptor ID	wds:Q21505506-F3141210-4096-4AB3-B939-AB50CD457C14
on focus list of Wikimedia project	wds:Q21505506-576032C0-8160-443F-92EC-86EFD3B5428F
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567363
UMLS CUI	C2676786
MeSH descriptor ID	C567363
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	hypophosphatemic nephrolithiasis/osteoporosis 1
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q21505506
is genetic association of	SLC34A1
is genetic association of	wds:Q18031573-14B927A6-424C-402E-8B36-86199BD62A23

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