MCID: CHN044
MIFTS: 19

Chondrodysplasia Punctata Syndrome malady

Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Chondrodysplasia Punctata Syndrome

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Wikipedia:64 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first... more...

MalaCards based summary: 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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Sources:
42NIH Rare Diseases, 23GTR, 61UMLS, 44Novoseek, 26ICD10
See all sources

Chondrodysplasia Punctata Syndrome, Aliases & Descriptions:

Name: Chondrodysplasia Punctata Syndrome 42 23 61
Chondrodysplasia Punctata 44 61
 
Chromosome 11p Deletion Syndrome 61
Toriello Higgins Miller Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


External Ids:

ICD1026 Q77.3

Related Diseases for Chondrodysplasia Punctata Syndrome

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Diseases in the Autosomal Dominant Chondrodysplasia Punctata family:

chondrodysplasia punctata syndrome

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
4chondrodysplasia punctata 2, x-linked10.8
5rhizomelic chondrodysplasia punctata, type 310.8
6chondrodysplasia punctata 1, x-linked10.7
7cervicitis10.6
8chondrodysplasia punctata 1, x-linked recessive10.6
9chondrodysplasia punctata 2 x-linked dominant10.6
10chondrodysplasia punctata, x-linked recessive10.6
11peroxisome disorders10.6
12chondrodysplasia punctata, tibia metacarpal type10.6
13autosomal dominant chondrodysplasia punctata10.6
14zellweger syndrome10.5
15lupus erythematosus10.5
16chondrodysplasia punctata, tibial-metacarpal type10.5
17chondrodysplasia punctata, toriello type10.5
18chondrodysplasia10.5
19cataract10.5
20multiple epiphyseal dysplasia10.5
21systemic lupus erythematosus10.4
22kallmann syndrome10.4
23chondrodysplasia punctata, humero-metacarpal type10.4
24short stature10.4
25adrenoleukodystrophy10.3
26x-linked ichthyosis10.3
27smith-lemli-opitz syndrome10.3
28osteogenesis imperfecta10.3
29refsum disease10.3
30mixed connective tissue disease10.3
31connective tissue disease10.3
32chondrodysplasia punctata sheffield type10.3
33chondrodysplasia punctata with steroid sulfatase deficiency10.3
34hydrops, ectopic calcification, moth-eaten skeletal dysplasia10.3
35mental retardation10.3
36chondrodysplasia punctata, unclassified10.3
37rhizomelic chondrodysplasia punctata spectrum10.3
38maxillonasal dysplasia10.3
39hepatitis10.2
40dyskeratosis congenita10.2
41blount's disease10.2
42tetralogy of fallot10.2
43coloboma10.2
44ocular albinism10.2
45neuronitis10.2
46neonatal respiratory failure10.2
47cerebritis10.2
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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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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Genetic tests related to Chondrodysplasia Punctata Syndrome:

id Genetic test Affiliating Genes
1 Chondrodysplasia Punctata23

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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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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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
  • Proteins
  • Kits and Assays

Sources for Chondrodysplasia Punctata Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet