MCID: CHN032
MIFTS: 3

Chondrodysplasia Punctata, Humero-Metacarpal Type

Categories: Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata, Humero-Metacarpal Type

MalaCards integrated aliases for Chondrodysplasia Punctata, Humero-Metacarpal Type:

Name: Chondrodysplasia Punctata, Humero-Metacarpal Type 54

Classifications:



Summaries for Chondrodysplasia Punctata, Humero-Metacarpal Type

MalaCards based summary : Chondrodysplasia Punctata, Humero-Metacarpal Type is related to chondrodysplasia punctata syndrome.

Related Diseases for Chondrodysplasia Punctata, Humero-Metacarpal Type

Diseases related to Chondrodysplasia Punctata, Humero-Metacarpal Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata syndrome 10.5

Symptoms & Phenotypes for Chondrodysplasia Punctata, Humero-Metacarpal Type

Drugs & Therapeutics for Chondrodysplasia Punctata, Humero-Metacarpal Type

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, Humero-Metacarpal Type

Genetic Tests for Chondrodysplasia Punctata, Humero-Metacarpal Type

Anatomical Context for Chondrodysplasia Punctata, Humero-Metacarpal Type

Publications for Chondrodysplasia Punctata, Humero-Metacarpal Type

Articles related to Chondrodysplasia Punctata, Humero-Metacarpal Type:

# Title Authors Year
1
Chondrodysplasia punctata, humero-metacarpal type: a second case. ( 8862628 )
1996

Variations for Chondrodysplasia Punctata, Humero-Metacarpal Type

Expression for Chondrodysplasia Punctata, Humero-Metacarpal Type

Search GEO for disease gene expression data for Chondrodysplasia Punctata, Humero-Metacarpal Type.

Pathways for Chondrodysplasia Punctata, Humero-Metacarpal Type

GO Terms for Chondrodysplasia Punctata, Humero-Metacarpal Type

Sources for Chondrodysplasia Punctata, Humero-Metacarpal Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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