MCID: DRM015
MIFTS: 16

Dermoids of Cornea malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Dermoids of Cornea

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Aliases & Descriptions for Dermoids of Cornea:

Name: Dermoids of Cornea 50 46 66
Corneal Dystrophy Epithelial-Short Stature Syndrome 52
Guízar Vázquez-Luengas-Muñoz Syndrome 52
 
X-Linked Corneal Dermoid 52
Cnd 46

Characteristics:

Orphanet epidemiological data:

52
corneal dystrophy epithelial-short stature syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

62
dermoids of cornea:
Inheritance: x-linked inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 304730
Orphanet52 ORPHA1661
ICD10 via Orphanet29 Q13.4

Summaries for Dermoids of Cornea

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MalaCards based summary: Dermoids of Cornea, also known as corneal dystrophy epithelial-short stature syndrome, is related to ring dermoid of cornea and thyroid cancer, and has symptoms including visual impairment, opacification of the corneal stroma and abnormality of the pupil. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye.

Description from OMIM:50 304730

Related Diseases for Dermoids of Cornea

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Diseases related to Dermoids of Cornea via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ring dermoid of cornea12.5
2thyroid cancer10.1
3thyroiditis10.1

Symptoms for Dermoids of Cornea

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Symptoms by clinical synopsis from OMIM:

304730

Clinical features from OMIM:

304730

Symptoms:

 52
  • visual impairment
  • visual loss
  • abnormality of the pupil
  • corneal opacity

HPO human phenotypes related to Dermoids of Cornea:

id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 opacification of the corneal stroma hallmark (90%) HP:0007759
3 abnormality of the pupil typical (50%) HP:0000615
4 abnormality of the eye HP:0000478

Drugs & Therapeutics for Dermoids of Cornea

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dermoids of Cornea

Genetic Tests for Dermoids of Cornea

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Anatomical Context for Dermoids of Cornea

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MalaCards organs/tissues related to Dermoids of Cornea:

34
Eye

Animal Models for Dermoids of Cornea or affiliated genes

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Publications for Dermoids of Cornea

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Variations for Dermoids of Cornea

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Expression for genes affiliated with Dermoids of Cornea

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Search GEO for disease gene expression data for Dermoids of Cornea.

Pathways for genes affiliated with Dermoids of Cornea

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GO Terms for genes affiliated with Dermoids of Cornea

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Sources for Dermoids of Cornea

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet