MCID: CHN018
MIFTS: 13

Chondrodysplasia Punctata 2, X-Linked malady

Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases categories

Summaries for Chondrodysplasia Punctata 2, X-Linked

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MalaCards based summary: Chondrodysplasia Punctata 2, X-Linked, also known as chondrodysplasia punctata, x-linked dominant type, is related to chondrodysplasia punctata, x-linked dominant and chondrodysplasia punctata. An important gene associated with Chondrodysplasia Punctata 2, X-Linked is EBP (emopamil binding protein (sterol isomerase)).

GeneReviews summary for x-dcdp

Aliases & Classifications for Chondrodysplasia Punctata 2, X-Linked

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Chondrodysplasia Punctata 2, X-Linked, Aliases & Descriptions:

Name: Chondrodysplasia Punctata 2, X-Linked 19
Chondrodysplasia Punctata, X-Linked Dominant Type 60
X-Linked Chondrodysplasia Punctata Type 2 20
 
Conradi-H├╝nermann Syndrome 19
Happle Syndrome 19


Classifications:



Related Diseases for Chondrodysplasia Punctata 2, X-Linked

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Diseases in the X-Linked Chondrodysplasia Punctata family:

Chondrodysplasia Punctata, X-Linked Recessive Chondrodysplasia Punctata, X-Linked Dominant
Chondrodysplasia Punctata 1, X-Linked chondrodysplasia punctata 2, x-linked

Diseases related to Chondrodysplasia Punctata 2, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chondrodysplasia punctata, x-linked dominant10.8
2chondrodysplasia punctata10.4
3chondrodysplasia10.4
4cataract10.1

Symptoms for Chondrodysplasia Punctata 2, X-Linked

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Drugs & Therapeutics for Chondrodysplasia Punctata 2, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata 2, X-Linked

Search NIH Clinical Center for Chondrodysplasia Punctata 2, X-Linked

Genetic Tests for Chondrodysplasia Punctata 2, X-Linked

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Genetic tests related to Chondrodysplasia Punctata 2, X-Linked:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata 2, X-Linked20 EBP

Anatomical Context for Chondrodysplasia Punctata 2, X-Linked

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Animal Models for Chondrodysplasia Punctata 2, X-Linked or affiliated genes

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Publications for Chondrodysplasia Punctata 2, X-Linked

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Articles related to Chondrodysplasia Punctata 2, X-Linked:

idTitleAuthorsYear
1
Chondrodysplasia Punctata 2, X-Linked (21634086)
1993

Variations for Chondrodysplasia Punctata 2, X-Linked

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Expression for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Search GEO for disease gene expression data for Chondrodysplasia Punctata 2, X-Linked.

Pathways for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Compounds for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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GO Terms for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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Products for genes affiliated with Chondrodysplasia Punctata 2, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chondrodysplasia Punctata 2, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet