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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ciliary dyskinesia with transposition of ciliary microtubules:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 215520
MedGen 42 C2673817
SNOMED-CT via HPO 69 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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
chronic sinopulmonary disease

Lab:
transposition of ciliary number 1 doublet microtubule


Clinical features from OMIM:

215520

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

32
# Description HPO Frequency HPO Source Accession
1 abnormal respiratory motile cilium morphology 32 HP:0005938
2 ciliary dyskinesia 32 HP:0012265
3 recurrent sinopulmonary infections 32 HP:0005425

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 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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