MCID: CHN044
MIFTS: 17

Chondrodysplasia Punctata Syndrome malady

Rare diseases category
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Summaries for Chondrodysplasia Punctata Syndrome

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 1.

Aliases & Classifications for Chondrodysplasia Punctata Syndrome

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43NIH Rare Diseases, 22GTR, 62UMLS, 45Novoseek, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

chondrodysplasia punctata syndrome 43 22 62
chondrodysplasia punctata 45 62
chromosome 11p deletion syndrome 62
toriello higgins miller syndrome 43


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:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1rhizomelic chondrodysplasia punctata11.1
2rhizomelic chondrodysplasia punctata type 110.9
3rhizomelic chondrodysplasia punctata type 210.8
4rhizomelic chondrodysplasia punctata, type 310.7
5chondrodysplasia punctata 2, x-linked10.7
6chondrodysplasia punctata 1, x-linked recessive10.6
7cervicitis10.6
8chondrodysplasia punctata 1, x-linked10.6
9chondrodysplasia punctata 2 x-linked dominant10.6
10chondrodysplasia punctata, x-linked recessive10.6
11peroxisome disorders10.5
12chondrodysplasia punctata, tibia metacarpal type10.5
13zellweger syndrome10.5
14multiple epiphyseal dysplasia10.5
15lupus erythematosus10.5
16chondrodysplasia punctata, tibial-metacarpal type10.5
17autosomal dominant chondrodysplasia punctata10.5
18chondrodysplasia punctata, toriello type10.5
19chondrodysplasia10.5
20cataract10.5
21non-rhizomelic chondrodysplasia punctata10.5
22systemic lupus erythematosus10.4
23kallmann syndrome10.4
24chondrodysplasia punctata, humero-metacarpal type10.4
25chondrodysplasia punctata, unclassified10.4
26short stature10.4
27x-linked ichthyosis10.3
28adrenoleukodystrophy10.3
29refsum disease10.3
30mixed connective tissue disease10.3
31osteogenesis imperfecta10.3
32smith-lemli-opitz syndrome10.3
33connective tissue disease10.3
34chondrodysplasia punctata sheffield type10.3
35chondrodysplasia punctata with steroid sulfatase deficiency10.3
36hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.3
37mental retardation10.3
38rhizomelic chondrodysplasia punctata spectrum10.3
39dyskeratosis congenita10.2
40neuronitis10.2
41tetralogy of fallot10.2
42blount's disease10.2
43coloboma10.2
44neonatal respiratory failure10.2
45cerebritis10.2
46ocular albinism10.2
47hepatitis10.2
48peroxisomal disease10.2
49respiratory failure10.2
50retinitis10.2

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata Syndrome:



Diseases related to chondrodysplasia punctata syndrome

Symptoms for Chondrodysplasia Punctata Syndrome

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Drugs & Therapeutics for Chondrodysplasia Punctata Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Chondrodysplasia Punctata Syndrome

Search NIH Clinical Center 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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52PubMed
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Articles related to Chondrodysplasia Punctata Syndrome:

idTitleAuthorsYear
1
Corneal changes in chondrodysplasia punctata syndrome. (8297075)
1993
2
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome. (8267015)
1993
3
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979

Variations for Chondrodysplasia Punctata Syndrome

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Expression for genes affiliated with Chondrodysplasia Punctata Syndrome

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet