About: buphthalmos

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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
owl:sameAs	buphthalmos
description	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) نوعی بیماری مادرزادی چشم (fa)
exact match	wds:Q4305015-86543AC1-1DCE-476A-812E-7401A46C9B37 wds:Q4305015-A4086F41-9D28-4E43-A9EF-77E91337140F
exact match	http://purl.obolibrary.org/obo/DOID_11211 http://identifiers.org/doid/DOID:11211
health specialty	wds:Q4305015-6078D0E1-EE8C-45D2-A715-BB1D63129A62
ICD-10	wds:q4305015-AA1E745C-ED71-4FF7-AB70-AE202773D517
DiseasesDB	wds:q4305015-C6D97DB5-C506-40BD-8DC1-E19DE97EB6D8
Disease Ontology ID	wds:Q4305015-87E2EEF4-8A02-48E4-ADFF-625EDF4782C6
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:11211
health specialty	medical genetics
ICD-10	Q15.0
DiseasesDB	1778
Disease Ontology ID	DOID:11211
rdfs:label	buphthalmos (en) گاوچشمی (fa) Buftalmia (pt) Woloocze (pl) buphtalmie (fr) جسامة المقلة (ar)
skos:prefLabel	buphthalmos (en) گاوچشمی (fa) Buftalmia (pt) Woloocze (pl) buphtalmie (fr) جسامة المقلة (ar)
name	buphthalmos (en) گاوچشمی (fa) Buftalmia (pt) Woloocze (pl) buphtalmie (fr) جسامة المقلة (ar)
Freebase ID	wds:Q4305015-78960EE7-0BC8-4AFD-9FAC-5AC58CA3FF76
Freebase ID	/m/026yk7j
instance of	wds:Q4305015-95433020-D4A0-4100-A31A-E314353562C4
instance of	class of disease
subclass of	wds:Q4305015-12022032-AC0E-4AB9-BFDE-7167E83B11AD wds:Q4305015-55E5E8FE-CB69-4545-997B-04CA2FD19806
subclass of	hydrophthalmos disease
ICD-9-CM	wds:Q4305015-F888D44E-5348-4D0E-89CA-6EE1580DA662
OMIM ID	wds:Q4305015-C3A2C8E5-3301-43D0-83C2-9E1A1999C943
ICD-9-CM	743.21
OMIM ID	231300
Medical Dictionary...ory Activities ID	wds:Q4305015-C13BFBDB-7051-42AA-96BD-345C7229F829
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10010486
Medical Dictionary...ory Activities ID	10010486
Commons category	wds:Q4305015-0A18EC1F-14BB-4914-8146-A372F7104901
Commons category	Buphthalmos
skos:altLabel	Hidroftalmia (pt) simple buphthalmos (en) بوفتالموس (fa) بوفتالمی (fa)
UMLS CUI	wds:Q4305015-D28D8A39-7098-4D7C-9C93-864696138181
on focus list of Wikimedia project	wds:Q4305015-17A91AED-055D-4821-8D67-386F3277D911
Microsoft Academic ID	wds:Q4305015-A3285BFB-42F8-4F00-B2EB-4A01B89897D4
ICD-11 ID (MMS)	wds:Q4305015-858e87f2-804c-4a4d-ae36-f6971365c100
ICD-11 (foundation)	wds:Q4305015-B7414BB1-6227-498E-8B0D-A96D61916DBA
Microsoft Academic ID	https://makg.org/entity/2776709127
UMLS CUI	C0311251
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2776709127
ICD-11 ID (MMS)	LA10.2
ICD-11 (foundation)	1106186590
SNOMED CT ID	wds:Q4305015-7D7C1675-6D15-4C97-BB7E-7C3B8AA45314
SNOMED CT ID	http://snomed.info/id/413728006
SNOMED CT ID	413728006
is owl:sameAs of	buphthalmos
is about of	buphthalmos https://pl.wikipedia.org/wiki/Woloocze https://www.wikidata.org/wiki/Special:EntityData/Q4305015 Buphthalmos Category:Buphthalmos https://fr.wikipedia.org/wiki/Buphtalmie https://ar.wikipedia.org/wiki/%D8%AC%D8%B3%D8%A7%D9%85%D8%A9_%D8%A7%D9%84%D9%85%D9%82%D9%84%D8%A9 https://fa.wikipedia.org/wiki/%DA%AF%D8%A7%D9%88%DA%86%D8%B4%D9%85%DB%8C https://pt.wikipedia.org/wiki/Buftalmia
is main subject of	Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21 Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region Congenital glaucoma and buphthalmos in a child with neurofibromatosis Buphthalmos and progressive elephantiasis in neurofibromatosis. A report of three cases Neurofibromatosis with congenital glaucoma and buphthalmos in a newborn Regeneration of retinal ganglion cell axons in organ culture is increased in rats with hereditary buphthalmos Buphthalmos in neurofibromatosis: is it an expression of regional giantism? The effect of buphthalmos on orbital growth in early childhood: Increased orbital soft tissue volume strongly correlates with increased orbital volume Ultrastructure of the cornea in a case of buphthalmos Split hand/split foot syndrome with atresia of nasolacrimal ducts and buphthalmos Unilateral buphthalmos and facial hemiatrophy caused by Recklinghausen's disease Chorioretinitis and buphthalmos in turkeys Buphthalmos in the rabbit Buphthalmos and Photophobia. Recessive buphthalmos in the rabbit

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