About: Microcoria

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Microcoria Goto Sponge Distinct Permalink

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

2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma

Attributes	Values
rdf:type	Item
owl:sameAs	Microcoria
description	2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma (en)
exact match	wds:Q720101-3FBDE65E-F773-485E-A07B-AFD3C4371FB8 wds:Q720101-9AED6667-20D1-4203-A643-C87678E04274
exact match	http://purl.obolibrary.org/obo/HP_0007728 http://www.orpha.net/ORDO/Orphanet_566
Mondo ID	wds:Q720101-7EA2CE95-B2CE-4984-A080-AF600265D964
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007989
Mondo ID	MONDO_0007989
rdfs:label	Microcoria (en) Microcoria congénita (es) Mikrokorija (bs) microcorie congénitale (fr)
skos:prefLabel	Microcoria (en) Microcoria congénita (es) Mikrokorija (bs) microcorie congénitale (fr)
name	Microcoria (en) Microcoria congénita (es) Mikrokorija (bs) microcorie congénitale (fr)
Freebase ID	wds:Q720101-317594DB-9FAE-4FB6-8AB6-6A0657A41D92
Freebase ID	/m/0fw0sw
instance of	wds:Q720101-FC808011-47D3-432D-AD12-A7E94E27AF4B
instance of	class of disease
subclass of	wds:Q720101-c2447f7f-4306-f2ee-7f5d-9b3f8b7b411f wds:Q720101-f54ead93-41d1-7133-93de-2e20e2c5ac9a
subclass of	miosis pupil disorder
Orphanet ID	wds:Q720101-66cbb9ee-4849-f4ba-c3b1-62dddf4543fd
GARD rare disease ID	wds:Q720101-702641B0-420C-4E24-80A1-78E35EAA62E0
OMIM ID	wds:Q720101-5269f92b-40d9-73c5-3a15-3cd0ee51798c
Orphanet ID	566
GARD rare disease ID	3635
OMIM ID	156600
Human Phenotype Ontology ID	wds:Q720101-703FF073-479A-43CC-B251-43CFE95464D1
Human Phenotype Ontology ID	HP:0007728
skos:altLabel	Chromosome 13Q32 Deletion Syndrome (en) Congenital miosis (en) MICROCORIA, CONGENITAL (en) Mcor (en) Microcoria (es) Microcoria congenita (es) Miosis, Congenital (en) Myosis congénital (fr) Pinhole pupils (en)
UMLS CUI	wds:Q720101-C5C9522D-3B69-46A8-96EB-10451324F919 wds:Q720101-D2B4E565-7E20-495C-84AC-65898FE34D0D
MeSH descriptor ID	wds:Q720101-2783efb3-4cb9-e3e2-e6be-fde5b469674f wds:Q720101-9E19F94B-632A-48C7-AA5C-6877FFBF46A8
Microsoft Academic ID	wds:Q720101-15FCA8A9-ECD6-427D-B650-316906F292A3
ICD-11 (foundation)	wds:Q720101-45836254-E716-41CA-AB09-A1ACC9FC1A48
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537550
Microsoft Academic ID	https://makg.org/entity/2776458773
UMLS CUI	C1303009
MeSH descriptor ID	C537550
Microsoft Academic ID	2776458773
ICD-11 (foundation)	290409436
is about of	Microcoria https://www.wikidata.org/wiki/Special:EntityData/Q720101 Microcoria https://bs.wikipedia.org/wiki/Mikrokorija https://es.wikipedia.org/wiki/Microcoria_cong%C3%A9nita
is main subject of	Congenital idiopathic microcoria Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome Mapping of a congenital microcoria locus to 13q31-q32 Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. Ultrabiomicroscopic-histopathologic correlations in individuals with autosomal dominant congenital microcoria: three-generation family report Congenital microcoria associated with late-onset developmental glaucoma. Hereditary cases of congenital microcoria and goniodysgenesis. Familial cases of congenital microcoria associated with late onset congenital glaucoma and goniodysgenesis Association of congenital microcoria with myopia and glaucoma. A study of 23 patients with congenital microcoria Congenital microcoria: case report and histological study Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma. Treatment results of treatment for congenital, unilateral microcoria and pupil displacement--case report Congenital Microcoria and Combined Mechanism Glaucoma Congenital idiopathic microcoria A case of isolated bilateral microcoria and ectopic lens (author's transl) Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism [Congenital microcoria: a case report with histopathological study] Congenital microcoria: a study in three generations Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria A Novel Homozygous Truncating Mutation in Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome Preliminary Study Concerning the Validity of Parathyroid Exploration on a CZT Camera [Congenital microcoria] Congenital microcoria in a Saudi family [A familial case of congenital microcoria associated with goniodysgenesis and congenital glaucoma of late onset. 2) On the developmental immaturity in the tissue of anterior chamber angle (author's transl)]. [Microcoria, a rare ophthalmologic manifestation of associated oculo-vertebro-acromelic malformations] Postiritic and post-glaucomatous iridic atrophy leading to bilateral microcoria, corectopia, and false poly-coria; report of a case Phacoemulsification and 1% atropine eye drops for treatment of antimetropic congenital microcoria associated with cataracts
is main subject of	wds:Q51454704-C0C7B97F-0E5E-4904-9807-1BAE56B9F045 wds:Q52099247-D6B57BCE-20A9-4C8B-B256-775A46B1A4A2 wds:Q67965878-A729CE6C-F9F3-40C2-B763-8A62CD6295DD wds:Q72560751-2032B556-F5D9-4ED4-BB37-384373CFC363 wds:Q71744828-699DBA0E-8FE6-4A32-AADB-0CC11BBDE7CA wds:Q80573717-3E699FA4-8FA7-4788-9955-62B701B081FC wds:Q69972818-EBF1DD70-9F09-4E35-AC99-0D9D83203469 wds:Q66913971-FFF78BE4-C365-442F-9042-66451C0DB970

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 193 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software