MCID: CHN044

Chondrodysplasia Punctata Syndrome malady

Summaries for Chondrodysplasia Punctata Syndrome

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63Wikipedia, 32MalaCards
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Wikipedia:63 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards: Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to wagr syndrome and oculocerebrorenal syndrome.

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 60UMLS, 44Novoseek, 25ICD10
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Classifications:



Aliases & Descriptions:

chondrodysplasia punctata syndrome 42 22 60
chondrodysplasia punctata 44 60
chromosome 11p deletion syndrome 60
toriello higgins miller syndrome 42


External Ids:

ICD1025 Q77.3

Related Diseases for Chondrodysplasia Punctata Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Chondrodysplasia Punctata Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wagr syndrome10.4
2oculocerebrorenal syndrome10.2
3genee-wiedemann syndrome10.2
4mills syndrome10.2

Clinical Features for Chondrodysplasia Punctata Syndrome

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Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Chondrodysplasia Punctata Syndrome

Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata Syndrome

Search NIH Clinical Center for Chondrodysplasia Punctata Syndrome

Search CenterWatch for Chondrodysplasia Punctata Syndrome

Genetic Tests for Chondrodysplasia Punctata Syndrome

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22GTR
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Genetic tests related to Chondrodysplasia Punctata Syndrome:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata22

Anatomical Context for Chondrodysplasia Punctata Syndrome

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Animal Models for Chondrodysplasia Punctata Syndrome or affiliated genes

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Publications for Chondrodysplasia Punctata Syndrome

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Genetic Variations for Chondrodysplasia Punctata Syndrome

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Expression for genes affiliated with Chondrodysplasia Punctata Syndrome

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Chondrodysplasia Punctata Syndrome.

Pathways for genes affiliated with Chondrodysplasia Punctata Syndrome

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Compounds for genes affiliated with Chondrodysplasia Punctata Syndrome

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GO Terms for genes affiliated with Chondrodysplasia Punctata Syndrome

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Products for genes affiliated with Chondrodysplasia Punctata Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Chondrodysplasia Punctata Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet