About: fundus albipunctatus

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fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement

Attributes	Values
rdf:type	Item
description	Krankheit (de) maladie (fr) хвороба (uk) malaltia ocular hereditària (ca) fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement (en)
exact match	wds:Q16570127-5D4AB1C2-1023-48CF-A8CB-8679C4A6F355 wds:Q16570127-98AB31AC-5600-4ACA-93F7-FCE77909B5F0 wds:Q16570127-E8BABB5E-229E-4628-8E9C-BB360C4598D9
exact match	http://purl.obolibrary.org/obo/DOID_11105 http://purl.obolibrary.org/obo/HP_0030642 http://identifiers.org/doid/DOID:11105
health specialty	wds:Q16570127-1EF425C6-EE9D-4207-B61C-8BD2F1D433A5
Mondo ID	wds:Q16570127-5D8A8BF2-64DB-4B7C-9FF0-D0A468A9EF55
Disease Ontology ID	wds:Q16570127-81806D02-FAF5-4075-8E97-C1FF9783EE09
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007639
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:11105
health specialty	neurology
Mondo ID	MONDO_0007639
Disease Ontology ID	DOID:11105
rdfs:label	Fundus albipunctatus (ca) Fundus albipunctatus (es) fundus albipunctatus (en) fundus albipunctatus (fr)
skos:prefLabel	Fundus albipunctatus (ca) Fundus albipunctatus (es) fundus albipunctatus (en) fundus albipunctatus (fr)
name	Fundus albipunctatus (ca) Fundus albipunctatus (es) fundus albipunctatus (en) fundus albipunctatus (fr)
instance of	wds:Q16570127-57A17581-6DFA-4C29-B001-D7B4AB4BB40C wds:Q16570127-DEE786F3-B685-4A34-9289-27883CF0561F
instance of	class of disease rare disease
subclass of	wds:Q16570127-D9B74575-E9FA-4857-A99C-AD17BE55F0DC
subclass of	fundus dystrophy
UniProt disease ID	wds:Q16570127-a92dca81-4e58-1d35-1c26-0e5690a1e477
Orphanet ID	wds:Q16570127-b8358c09-4fad-6d3b-e0a9-eccd8d439a04
ICD-9-CM	wds:Q16570127-44C8151F-CD80-4498-90A7-F4771D39F6B8
genetic association	wds:Q16570127-07A2AB08-315F-4C5F-9B01-5EB2AFE46B98 wds:Q16570127-4BF3A69C-C8B2-4195-98B8-A04C87297051 wds:Q16570127-A66657F7-CFF1-493C-B93D-B14AD99496B3
ICD-10-CM	wds:Q16570127-7AE721E2-2F3A-4A24-87E4-1FBCE8DE98E3
OMIM ID	wds:Q16570127-C1052C16-1F0B-4497-8CCD-920A73F3E9A3
UniProt disease ID	DI-04584
Orphanet ID	227796
ICD-9-CM	362.74
genetic association	RLBP1 PRPH2 RHO
ICD-10-CM	H35.52
OMIM ID	136880
Human Phenotype Ontology ID	wds:Q16570127-0FD347AD-3AE9-4993-96AA-BDEB20B11B77
Human Phenotype Ontology ID	HP:0030642
skos:altLabel	retinitis punctata albescens (en) Pigmentary retinal dystrophy (en)
UMLS CUI	wds:Q16570127-DF64C74A-A6B2-474F-BA06-63A39206CD5F
MeSH descriptor ID	wds:Q16570127-DA864F3D-EFF9-499B-9A56-21747FF3BC06
on focus list of Wikimedia project	wds:Q16570127-988014D8-7C9D-4679-AB78-329DDE9D4064
ICD-11 (foundation)	wds:Q16570127-300417A0-E532-4874-83F8-C7662E69F80F wds:Q16570127-B61C2580-3046-4FF5-BBEB-971C4ECBC657
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C562733
UMLS CUI	C0311338
MeSH descriptor ID	C562733
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	1142103178 1981512475
is owl:sameAs of	fundus albipunctatus
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q16570127 https://ca.wikipedia.org/wiki/Fundus_albipunctatus https://es.wikipedia.org/wiki/Fundus_albipunctatus
is subclass of of	retinitis punctata albescens
is subclass of of	wds:Q16625025-1cb942a4-46f0-3f23-d0da-381769bc44bb
is main subject of	Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1 A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Macular dystrophy in a Japanese family with fundus albipunctatus Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy Fundus albipunctatus associated with cone dystrophy High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene Improvement in rod and cone function in mouse model of Fundus albipunctatus after pharmacologic treatment with 9-cis-retinal Macular dystrophy in a 9-year-old boy with fundus albipunctatus

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