MCID: CLR129
MIFTS: 6

Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Aliases & Classifications for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

MalaCards integrated aliases for Ciliary Dyskinesia with Transposition of Ciliary Microtubules:

Name: Ciliary Dyskinesia with Transposition of Ciliary Microtubules 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ciliary dyskinesia with transposition of ciliary microtubules:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 58 215520
MedGen 43 C2673817
SNOMED-CT via HPO 70 258211005 86204009

Summaries for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

MalaCards based summary : Ciliary Dyskinesia with Transposition of Ciliary Microtubules Related phenotypes are abnormal respiratory motile cilium morphology and ciliary dyskinesia

Description from OMIM: 215520

Related Diseases for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Symptoms & Phenotypes for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Human phenotypes related to Ciliary Dyskinesia with Transposition of Ciliary Microtubules:

33
# Description HPO Frequency HPO Source Accession
1 abnormal respiratory motile cilium morphology 33 HP:0005938
2 ciliary dyskinesia 33 HP:0012265
3 recurrent sinopulmonary infections 33 HP:0005425

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
chronic sinopulmonary disease

Lab:
transposition of ciliary number 1 doublet microtubule

Clinical features from OMIM:

215520

Drugs & Therapeutics for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Genetic Tests for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Anatomical Context for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Publications for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Variations for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Expression for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Search GEO for disease gene expression data for Ciliary Dyskinesia with Transposition of Ciliary Microtubules.

Pathways for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

GO Terms for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

Sources for Ciliary Dyskinesia with Transposition of Ciliary Microtubules

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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