CND
MCID: DRM015
MIFTS: 16

Dermoids of Cornea (CND) 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 52 48
Corneal Dystrophy Epithelial-Short Stature Syndrome 54
Guízar Vázquez-Luengas-Muñoz Syndrome 54
 
X-Linked Corneal Dermoid 54
Cnd 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
dermoids of cornea:
Inheritance: x-linked inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 304730
Orphanet54 ORPHA1661
ICD10 via Orphanet31 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 Array, Array and Array. An important gene associated with Dermoids of Cornea is CND (Corneal Dermoids). Affiliated tissues include eye.

Description from OMIM:52 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 cornea12.4
2thyroid cancer10.0
3thyroiditis10.0

Symptoms & Phenotypes for Dermoids of Cornea

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Symptoms by clinical synopsis from OMIM:

304730

Clinical features from OMIM:

304730

Human phenotypes related to Dermoids of Cornea:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment64 54 Very frequent (99-80%) HP:0000505
2 visual loss64 54 Occasional (29-5%) HP:0000572
3 abnormality of the pupil64 54 Frequent (79-30%) HP:0000615
4 corneal opacity64 54 Very frequent (99-80%) HP:0007957
5 abnormality of the eye64 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:

36
Eye

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet