RDC
MCID: RNG003
MIFTS: 15

Ring Dermoid of Cornea (RDC) malady

Eye category

Summaries for Ring Dermoid of Cornea

Sources:
47OMIM, 33MalaCards
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MalaCards: Ring Dermoid of Cornea, also known as ring dermoid syndrome, is related to melancholia and bruxism. An important gene associated with Ring Dermoid of Cornea is PITX2 (paired-like homeodomain 2).

Description from OMIM:47 180550

Aliases & Classifications for Ring Dermoid of Cornea

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
ring dermoid of cornea:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ring dermoid of cornea 43 20 22 47 49 61
ring dermoid syndrome 43 49
bilateral, annular limbal dermoids with corneal and conjunctival extension 43
rdc 43


External Ids:

OMIM47 180550
MESH via Orphanet36 C535684
ICD10 via Orphanet26 D31.1
UMLS via Orphanet62 C1867155

Related Diseases for Ring Dermoid of Cornea

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ring Dermoid of Cornea via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1melancholia10.3
2bruxism10.0

Clinical Features for Ring Dermoid of Cornea

Sources:
47OMIM
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Clinical features from OMIM:

180550

Clinical synopsis from OMIM:

180550

Drugs & Therapeutics for Ring Dermoid of Cornea

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ring Dermoid of Cornea

Drug clinical trials:

Search ClinicalTrials for Ring Dermoid of Cornea

Search NIH Clinical Center for Ring Dermoid of Cornea

Search CenterWatch for Ring Dermoid of Cornea

Genetic Tests for Ring Dermoid of Cornea

Sources:
20GeneTests, 22GTR
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Genetic tests related to Ring Dermoid of Cornea:

id Genetic test Affiliating Genes
1 Ring Dermoid Of Cornea20 22 PITX2

Anatomical Context for Ring Dermoid of Cornea

Animal Models for Ring Dermoid of Cornea or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Ring Dermoid of Cornea

Genetic Variations for Ring Dermoid of Cornea

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ring Dermoid of Cornea:

63
id Symbol AA change Variation SNP ID
1PITX2p.Arg108HisVAR_035027

Expression for genes affiliated with Ring Dermoid of Cornea

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ring Dermoid of Cornea

Search GEO for disease gene expression data for Ring Dermoid of Cornea.

Pathways for genes affiliated with Ring Dermoid of Cornea

Compounds for genes affiliated with Ring Dermoid of Cornea

GO Terms for genes affiliated with Ring Dermoid of Cornea

Products for genes affiliated with Ring Dermoid of Cornea

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ring Dermoid of Cornea

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet