MCID: CLR067
MIFTS: 16

Ciliary Dyskinesia, Primary, 4

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 4

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 4:

Name: Ciliary Dyskinesia, Primary, 4 57 29 13
Cild4 57 12
Ciliary Dyskinesia, Primary, 4, with or Without Situs Inversus 57
Primary Ciliary Dyskinesia 4 with or Without Situs Inversus 12
Primary Ciliary Dyskinesia, 4 73
Primary Ciliary Dyskinesia 4 12

Classifications:



External Ids:

OMIM 57 608646
Disease Ontology 12 DOID:0110614
ICD10 33 Q34.8
MedGen 42 C1837616
UMLS 73 C1837616

Summaries for Ciliary Dyskinesia, Primary, 4

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.

MalaCards based summary : Ciliary Dyskinesia, Primary, 4, also known as cild4, is related to primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 4 is CILD4 (Ciliary Dyskinesia, Primary, 4).

Description from OMIM: 608646

Related Diseases for Ciliary Dyskinesia, Primary, 4

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 4

Clinical features from OMIM:

608646

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 4

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 4

Genetic Tests for Ciliary Dyskinesia, Primary, 4

Genetic tests related to Ciliary Dyskinesia, Primary, 4:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 4 29

Anatomical Context for Ciliary Dyskinesia, Primary, 4

Publications for Ciliary Dyskinesia, Primary, 4

Variations for Ciliary Dyskinesia, Primary, 4

Expression for Ciliary Dyskinesia, Primary, 4

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 4.

Pathways for Ciliary Dyskinesia, Primary, 4

GO Terms for Ciliary Dyskinesia, Primary, 4

Sources for Ciliary Dyskinesia, Primary, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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