About: occult macular dystrophy

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

macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings (en)
exact match	wds:Q18553320-05E81BAD-6BEE-460F-894D-A3A94A2E3E4C wds:Q18553320-21C2B6D0-C6DE-40A6-A23F-A4B4EB8D7DCE wds:Q18553320-EBC40ABF-2CF1-4816-AE8A-6A95BEDB3584
exact match	http://purl.obolibrary.org/obo/DOID_0050578 http://identifiers.org/doid/DOID:0050578 http://www.orpha.net/ORDO/Orphanet_247834
ICD-10	wds:Q18553320-6cf16873-4e56-1483-d8f1-cb8b69ff8765
Mondo ID	wds:Q18553320-FDDDBB49-B7E5-44FE-B3FE-B43787FF2C93
Disease Ontology ID	wds:Q18553320-90B42670-C1F9-4F97-854F-67A55B3CAAB3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013316
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050578
ICD-10	H35.5
Mondo ID	MONDO_0013316
Disease Ontology ID	DOID:0050578
rdfs:label	dystrophie maculaire occulte (fr) occult macular dystrophy (en)
skos:prefLabel	dystrophie maculaire occulte (fr) occult macular dystrophy (en)
name	dystrophie maculaire occulte (fr) occult macular dystrophy (en)
instance of	wds:Q18553320-7A885BFB-9063-4CAA-9F71-8E263F309266 wds:Q18553320-9F62C301-B49F-4C69-9C14-84787AA0CB7D
instance of	class of disease rare disease
subclass of	wds:Q18553320-C695D677-37C1-4FAB-8673-E437369A625A wds:Q18553320-E88F4777-10FB-4F26-8E82-B91DAF926BED
subclass of	macular degeneration genetic macular dystrophy
Google Knowledge Graph ID	wds:Q18553320-C7B13851-8135-460C-904C-80250B7FEBEB
KEGG ID	wds:Q18553320-4A72058F-3DC1-4B45-8D32-7244548958ED
Google Knowledge Graph ID	http://g.co/kg/g/11fk8ffm54
KEGG ID	http://www.kegg.jp/entry/H01010
Google Knowledge Graph ID	/g/11fk8ffm54
KEGG ID	H01010
UniProt disease ID	wds:Q18553320-9446798b-45c4-fb5e-60d6-d70c74009bb6
Orphanet ID	wds:Q18553320-76394D87-DAF7-428E-94FF-F6D06B23B6FC wds:Q18553320-94f5237a-4d9b-f3b1-9831-16331d175e0f
genetic association	wds:Q18553320-46D10FFE-99DA-4481-B834-1CE35F5DA12F
ICD-10-CM	wds:Q18553320-2462622C-4873-4B8B-9605-8B258FC3F9A9
OMIM ID	wds:Q18553320-EAAB868B-2BAB-4ED0-9493-C23E49015417
UniProt disease ID	DI-03012
Orphanet ID	24783 247834
genetic association	RP1L1
ICD-10-CM	H35.5
OMIM ID	613587
Medical Dictionary...ory Activities ID	wds:Q18553320-FCB868B8-DC7C-49A0-8BE5-8838B0AF1F76
Medical Dictionary...ory Activities ID	http://purl.bioontology.org/ontology/MDRFRE/10019899
Medical Dictionary...ory Activities ID	10019899
skos:altLabel	OMD (en) Occult macular dystrophy (en) OCMD (en) OCCULT MACULAR DYSTROPHY (en) OCCULT MACULAR DYSTROPHY; OCMD (en)
UMLS CUI	wds:Q18553320-F5E8035B-0A1F-4D11-854B-1811F47EABF6 wds:Q18553320-F97A7106-F2EB-4992-AB92-D2CF854D12A8
on focus list of Wikimedia project	wds:Q18553320-E178BBF6-1FC7-41E1-81B3-654D8C3A151E
ICD-11 (foundation)	wds:Q18553320-E397A2F0-30FB-49E7-BA9D-47187F99387E
UMLS CUI	C3150833
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 (foundation)	863463706
has phenotype	wds:Q18553320-DFB40C4B-003E-4E2D-8854-2F04D6ABA8F6
has phenotype	acute visual loss
is owl:sameAs of	occult macular dystrophy
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q18553320 Occult macular dystrophy
is main subject of	RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy Multifocal electroretinogram (mfERG) in a family with occult macular dystrophy (OMD). Loss of Foveal Cone Photoreceptor Outer Segments in Occult Macular Dystrophy Dominant mutations in RP1L1 are responsible for occult macular dystrophy Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography Multifocal electroretinogram in occult macular dystrophy Optical coherence tomography findings in occult macular dystrophy OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES. A case of occult macular dystrophy accompanying normal-tension glaucoma Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W). Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene Spinocerebellar ataxia type 7 with RP1L1-negative occult macular dystrophy as retinal manifestation Multimodal imaging of occult macular dystrophy Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy Spectral domain optical coherence tomographic findings of occult macular dystrophy A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. Fundus autofluorescence in autosomal dominant occult macular dystrophy Characterizing the phenotype and genotype of a family with occult macular dystrophy Clinical and genetic characteristics of Korean occult macular dystrophy patients. Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P) Microperimetry in a case of occult macular dystrophy Occult macular dystrophy in an 11 year old boy. CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION. A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region Pattern-reversal visual-evoked potential in patients with occult macular dystrophy [Clinical analysis of occult macular dystrophy] Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy

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