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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:macular corneal dystrophy
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Accession:DOID:2565 term browser browse the term
Definition:A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)
Synonyms:exact_synonym: Fehr corneal dystrophy;   Groenouw type II corneal dystrophy;   MCD;   corneal dystrophy, macular type;   corneal macular dystrophies
 narrow_synonym: MCDC1;   Macular Corneal Dystrophy Type 1;   Macular Corneal Dystrophy, Type I;   macular corneal dystrophy 1;   macular corneal dystrophy type II
 primary_id: OMIM:217800
 alt_id: MESH:C537834;   MESH:C563270;   OMIA:002071
 xref: ICD10CM:H18.55;   ICD9CM:371.55;   NCI:C34793
For additional species annotation, visit the Alliance of Genome Resources.

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macular corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcar1 BCAR1 scaffold protein, Cas family member ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,994,130...24,032,829
Ensembl chrNW_004936475:23,992,193...24,033,031 		JBrowse link
G Cfdp1 craniofacial development protein 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:24,053,558...24,164,674
Ensembl chrNW_004936475:24,052,963...24,164,679 		JBrowse link
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235 		JBrowse link
G Ldhd lactate dehydrogenase D ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,920,204...23,923,846
Ensembl chrNW_004936475:23,916,584...23,923,886 		JBrowse link
G LOC101966958 GATOR complex protein WDR59 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,754,525...23,803,942
Ensembl chrNW_004936475:23,726,314...23,803,854 		JBrowse link
G Tmem170a transmembrane protein 170A ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:24,168,798...24,184,519
Ensembl chrNW_004936475:24,169,224...24,184,505 		JBrowse link
G Zfp1 ZFP1 zinc finger protein ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,935,588...23,953,489
Ensembl chrNW_004936475:23,935,594...23,953,465 		JBrowse link
G Znrf1 zinc and ring finger 1 ISO ClinVar Annotator: match by term: Macular corneal dystrophy ClinVar PMID:11017086 PMID:14609920 PMID:14735064 PMID:28492532 NCBI chrNW_004936475:23,814,200...23,918,871
Ensembl chrNW_004936475:23,814,194...23,916,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      eye disease 3211
        corneal disease 210
          corneal dystrophy 50
            stromal dystrophy 11
              macular corneal dystrophy 8
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            eye disease 3211
              Hereditary Eye Diseases 1040
                corneal dystrophy 50
                  stromal dystrophy 11
                    macular corneal dystrophy 8
paths to the root