MCID: KLP013
MIFTS: 7

Klippel-Feil Syndrome 3

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Klippel-Feil Syndrome 3

MalaCards integrated aliases for Klippel-Feil Syndrome 3:

Name: Klippel-Feil Syndrome 3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080591

Summaries for Klippel-Feil Syndrome 3

Disease Ontology : 12 A Klippel-Feil syndrome that has material basis in heterozygous mutation in the GDF3 gene on chromosome 12p13.

MalaCards based summary : Klippel-Feil Syndrome 3 is related to klippel-feil syndrome 3, autosomal dominant. An important gene associated with Klippel-Feil Syndrome 3 is GDF3 (Growth Differentiation Factor 3). Affiliated tissues include bone.

Related Diseases for Klippel-Feil Syndrome 3

Diseases in the Klippel-Feil Syndrome family:

Klippel-Feil Syndrome 1, Autosomal Dominant Klippel-Feil Syndrome 2, Autosomal Recessive
Klippel-Feil Syndrome 3, Autosomal Dominant Klippel-Feil Syndrome 1
Klippel-Feil Syndrome 3 Klippel-Feil Syndrome 4

Diseases related to Klippel-Feil Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 klippel-feil syndrome 3, autosomal dominant 13.0

Symptoms & Phenotypes for Klippel-Feil Syndrome 3

Drugs & Therapeutics for Klippel-Feil Syndrome 3

Search Clinical Trials , NIH Clinical Center for Klippel-Feil Syndrome 3

Genetic Tests for Klippel-Feil Syndrome 3

Anatomical Context for Klippel-Feil Syndrome 3

MalaCards organs/tissues related to Klippel-Feil Syndrome 3:

40
Bone

Publications for Klippel-Feil Syndrome 3

Articles related to Klippel-Feil Syndrome 3:

# Title Authors PMID Year
1
Hemimetameric segmental shift: a case series and review. 61
12486365 2002

Variations for Klippel-Feil Syndrome 3

Expression for Klippel-Feil Syndrome 3

Search GEO for disease gene expression data for Klippel-Feil Syndrome 3.

Pathways for Klippel-Feil Syndrome 3

GO Terms for Klippel-Feil Syndrome 3

Sources for Klippel-Feil Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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