isolated microphthalmia 5 - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	isolated microphthalmia 5	go back to main search page
Accession:	DOID:0060837	browse the term
Definition:	An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)
Synonyms:	exact_synonym:	MCOP5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
	primary_id:	MESH:C567024
	alt_id:	OMIM:611040
	xref:	ICD10CM:Q15.8; ORDO:251279
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (2)

isolated microphthalmia 5

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

C1qtnf5

C1q and TNF related 5

ISO

ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen

ClinVar

PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649

NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637

Mfrp

membrane frizzled-related protein

ISO

ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040

OMIM
ClinVar

RGD:11553925

NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421

Term paths to the root

Path 1
Term	Annotations
disease	16091
sensory system disease	5176
eye disease	2591
microphthalmia	95
isolated microphthalmia	14
isolated microphthalmia 5	2
Path 2
Term	Annotations
disease	16091
disease of anatomical entity	15341
nervous system disease	10949
sensory system disease	5176
eye disease	2591
retinal disease	777
retinal degeneration	466
fundus dystrophy	333
retinitis pigmentosa	267
isolated microphthalmia 5	2

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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