DiseaseID 3087
卡塔格内综合征
disease
NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract.|MSH2017_20
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Formula: 11Herb: 2Symptom: 10Target: 24Links: 47
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3087
- Core Entity Id
- 3493
- Source Entity Count
- 1
- Preferred Name
- Kartagener Syndrome
- Name Cn
- 卡塔格内综合征
- Name Pinyin
- Ka Ta Ge Nei Zong He Zheng
- Name En
- Kartagener Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases
- Do Class
- syndrome; genetic disease
- Hpo Class
- Abnormality of the respiratory system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases
- Hpo Class Name
- Abnormality of the respiratory system
- Do Class Name
- genetic disease; syndrome
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract.|MSH2017_2016_08_12:An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Kartagener Syndrome
Role
preferred
Name
Ciliary Dyskinesia, Primary, 1
Role
preferred
Name
Ciliary Dyskinesia, Primary, 10
Role
preferred
Name
Ciliary Dyskinesia, Primary, 11
Role
preferred
Name
Ciliary Dyskinesia, Primary, 12
Role
preferred
Name
Ciliary Dyskinesia, Primary, 13
Role
preferred
Name
Ciliary Dyskinesia, Primary, 14
Role
preferred
Name
Ciliary Dyskinesia, Primary, 15
Role
preferred
Name
Ciliary Dyskinesia, Primary, 16
Role
preferred
Name
Ciliary Dyskinesia, Primary, 17
Role
preferred
Name
Ciliary Dyskinesia, Primary, 18
Role
preferred
Name
Ciliary Dyskinesia, Primary, 19
Role
preferred
Name
Ciliary Dyskinesia, Primary, 20
Role
preferred
Name
Ciliary Dyskinesia, Primary, 21
Role
preferred
Name
Ciliary Dyskinesia, Primary, 22
Role
preferred
Name
Ciliary Dyskinesia, Primary, 23
Role
preferred
Name
Ciliary Dyskinesia, Primary, 24
Role
preferred
Name
Ciliary Dyskinesia, Primary, 25
Role
preferred
Name
Ciliary Dyskinesia, Primary, 26
Role
preferred
Name
Ciliary Dyskinesia, Primary, 27
Role
preferred
Name
Ciliary Dyskinesia, Primary, 28
Role
preferred
Name
Ciliary Dyskinesia, Primary, 29
Role
preferred
Name
Ciliary Dyskinesia, Primary, 3
Role
preferred
Name
Ciliary Dyskinesia, Primary, 30
Role
preferred
Name
Ciliary Dyskinesia, Primary, 32
Role
preferred
Name
Ciliary Dyskinesia, Primary, 33
Role
preferred
Name
Ciliary Dyskinesia, Primary, 5
Role
preferred
Name
Ciliary Dyskinesia, Primary, 6
Role
preferred
Name
Ciliary Dyskinesia, Primary, 7
Role
preferred
Name
Ciliary Dyskinesia, Primary, 9
Role
preferred
Name
Primary Ciliary Dyskinesia
Role
preferred
Name
CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
Role
preferred
Name
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Role
preferred
Name
Ciliary Dyskinesia, Primary, 2 (Disorder)
Role
preferred
Name
Ciliary Dyskinesia, Primary, 35
Role
preferred
Name
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
Role
preferred
Name
Ciliary Motility Disorders
Role
preferred
Name
Congenital Atresia of Nasopharynx
Role
preferred
Name
Other Specified Congenital Malformations of Respiratory System
Role
preferred
Name
Polynesian Bronchiectasis
Role
preferred
Name
CILD1
Role
alias
Name
CILD10
Role
alias
Name
CILD11
Role
alias
Name
CILD12
Role
alias
Name
CILD13
Role
alias
Name
CILD14
Role
alias
Name
CILD15
Role
alias
Name
CILD16
Role
alias
Name
CILD17
Role
alias
Name
CILD18
Role
alias
Name
CILD19
Role
alias
Name
CILD20
Role
alias
Name
CILD21
Role
alias
Name
CILD22
Role
alias
Name
CILD23
Role
alias
Name
CILD24
Role
alias
Name
CILD25
Role
alias
Name
CILD26
Role
alias
Name
CILD27
Role
alias
Name
CILD28
Role
alias
Name
CILD29
Role
alias
Name
CILD3
Role
alias
Name
CILD30
Role
alias
Name
CILD32
Role
alias
Name
CILD33
Role
alias
Name
CILD5
Role
alias
Name
CILD6
Role
alias
Name
CILD7
Role
alias
Name
CILD9
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 14, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 17, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 29, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS
Role
alias
Name
CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS
Role
alias
Name
Ciliary Dyskinesia
Role
alias
Name
Ciliary Dyskinesia, Primary, 2
Role
alias
Name
Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus
Role
alias
Name
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
Role
alias
Name
ICS
Role
alias
Name
IMMOTILE CILIA SYNDROME
Role
alias
Name
PCD
Role
alias
Name
Primary Ciliary Dyskinesia 1
Role
alias
Name
Primary Ciliary Dyskinesia 10
Role
alias
Name
Primary Ciliary Dyskinesia 11
Role
alias
Name
Primary Ciliary Dyskinesia 12
Role
alias
Name
Primary Ciliary Dyskinesia 13
Role
alias
Name
Primary Ciliary Dyskinesia 14
Role
alias
Name
Primary Ciliary Dyskinesia 15
Role
alias
Name
Primary Ciliary Dyskinesia 16
Role
alias
Name
Primary Ciliary Dyskinesia 17
Role
alias
Name
Primary Ciliary Dyskinesia 18
Role
alias
Name
Primary Ciliary Dyskinesia 19
Role
alias
Name
Primary Ciliary Dyskinesia 2
Role
alias
Name
Primary Ciliary Dyskinesia 20
Role
alias
Name
Primary Ciliary Dyskinesia 21
Role
alias
Name
Primary Ciliary Dyskinesia 22
Role
alias
Name
Primary Ciliary Dyskinesia 23
Role
alias
Name
Primary Ciliary Dyskinesia 24
Role
alias
Name
Primary Ciliary Dyskinesia 25
Role
alias
Name
Primary Ciliary Dyskinesia 26
Role
alias
Name
Primary Ciliary Dyskinesia 27
Role
alias
Name
Primary Ciliary Dyskinesia 28
Role
alias
Name
Primary Ciliary Dyskinesia 29
Role
alias
Name
Primary Ciliary Dyskinesia 3
Role
alias
Name
Primary Ciliary Dyskinesia 30
Role
alias
Name
Primary Ciliary Dyskinesia 32
Role
alias
Name
Primary Ciliary Dyskinesia 33
Role
alias
Name
Primary Ciliary Dyskinesia 35
Role
alias
Name
Primary Ciliary Dyskinesia 4
Role
alias
Name
Primary Ciliary Dyskinesia 5
Role
alias
Name
Primary Ciliary Dyskinesia 6
Role
alias
Name
Primary Ciliary Dyskinesia 7
Role
alias
Name
Primary Ciliary Dyskinesia 8
Role
alias
Name
Primary Ciliary Dyskinesia 9
Role
alias
Name
SIEWERT SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0012265
Herb
HBDIS000591HBDIS001595HBDIS005878HBDIS009715HBDIS015596HBDIS018849HBDIS019418HBDIS019558HBDIS019887HBDIS020825HBDIS021659HBDIS022367HBDIS023033HBDIS025660HBDIS026436HBDIS027294HBDIS027341HBDIS028806HBDIS028873HBDIS029114HBDIS029115HBDIS029132HBDIS029274HBDIS029275HBDIS029371HBDIS029375HBDIS029378HBDIS029470HBDIS029487HBDIS029488HBDIS029492HBDIS029493HBDIS029496HBDIS029498HBDIS029577HBDIS029861HBDIS029939HBDIS030059
Me Sh
D002925D007619
Omim
215518215520242670244400606763608644608647610852611884612444612518612649612650613193613807613808614017614679614874614935615067615294615444615451615481615482615500615504615505615872616037616481616726617092
Umls
C0022521C1837615C1837618C1970506C2675228C2675229C2675867C2676235C2678473C2750790C3151136C3151137C3151460C3540844C3542550C3543825C3543826C3809087C3809543C3809548C3809634C3809641C3809684C3809701C3809706C4014534C4015016C4225230C4225311C4282153
Icd10
Q34.8
Med Dra
10069713
Sym Map
SMDE00015SMDE00200SMDE00357SMDE00440SMDE00927SMDE00951SMDE01089SMDE01113SMDE01213SMDE01366SMDE01529SMDE01734SMDE01845SMDE01860SMDE02578SMDE02661SMDE03041SMDE03516SMDE03699SMDE04056SMDE04314SMDE04444SMDE04502SMDE04551SMDE04635SMDE04640SMDE04708SMDE04887SMDE05088SMDE05091SMDE10159
Do Class
DOID:225DOID:630
Dis Ge Net
C0008780C0022521C0265747C0478019C1837615C1837618C1847554C1970506C2675228C2675229C2675867C2676235C2678473C2750790C3151136C3151137C3151460C3540844C3542550C3543825C3543826C3809087C3809543C3809548C3809634C3809641C3809684C3809701C3809706C4014534C4015016C4225230C4225311C4310721C4317124C4551720C4551906C4552030
Orphanet
244
Umls Sty
T019T047
Hpo Class
HP:0002086
Me Sh Class
C07C08C09C14C16
Etcm Disease
Ciliary Dyskinesia, Primary, 1Ciliary Dyskinesia, Primary, 10Ciliary Dyskinesia, Primary, 11Ciliary Dyskinesia, Primary, 12Ciliary Dyskinesia, Primary, 13Ciliary Dyskinesia, Primary, 14Ciliary Dyskinesia, Primary, 15Ciliary Dyskinesia, Primary, 16Ciliary Dyskinesia, Primary, 17Ciliary Dyskinesia, Primary, 18Ciliary Dyskinesia, Primary, 19Ciliary Dyskinesia, Primary, 20Ciliary Dyskinesia, Primary, 21Ciliary Dyskinesia, Primary, 22Ciliary Dyskinesia, Primary, 23Ciliary Dyskinesia, Primary, 24Ciliary Dyskinesia, Primary, 25Ciliary Dyskinesia, Primary, 26Ciliary Dyskinesia, Primary, 27Ciliary Dyskinesia, Primary, 28Ciliary Dyskinesia, Primary, 29Ciliary Dyskinesia, Primary, 3Ciliary Dyskinesia, Primary, 30Ciliary Dyskinesia, Primary, 32Ciliary Dyskinesia, Primary, 33Ciliary Dyskinesia, Primary, 35Ciliary Dyskinesia, Primary, 5Ciliary Dyskinesia, Primary, 6Ciliary Dyskinesia, Primary, 7Ciliary Dyskinesia, Primary, 9
Tcmbank Disease
1401020943211472146521572216822200225711258812592225962260682735131312416456758784
Itcmdb Generated
ITX-DISEASE-00DFC86B27DEITX-DISEASE-0206A3CA7F1EITX-DISEASE-06E898C80A6CITX-DISEASE-077BDD33E5FAITX-DISEASE-0888567A2486ITX-DISEASE-09AA0AFC3668ITX-DISEASE-0B755CD3EA07ITX-DISEASE-14B2FA10B7B9ITX-DISEASE-1CD893051FF3ITX-DISEASE-1E67046CD606ITX-DISEASE-2D500B4D7A16ITX-DISEASE-3845AD238AF3ITX-DISEASE-4CE0BF690B21ITX-DISEASE-5123AB379B5CITX-DISEASE-6B198C88DA5BITX-DISEASE-7CF67D803CAFITX-DISEASE-839B1553B847ITX-DISEASE-87253D8C0FF4ITX-DISEASE-921C5B2805DAITX-DISEASE-96D6E5D41345ITX-DISEASE-9A89C799B9A0ITX-DISEASE-9B2ABFC8B083ITX-DISEASE-A337D5086447ITX-DISEASE-A77A5DB239A0ITX-DISEASE-ABCB3EB3B384ITX-DISEASE-B1A540983831ITX-DISEASE-BB14D6875C08ITX-DISEASE-D164CB83C2A9ITX-DISEASE-D55022CB97C1ITX-DISEASE-E69586EFE83BITX-DISEASE-E81C61778D26ITX-DISEASE-EA76CB9A8C24ITX-DISEASE-EE09040DCB95
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Ciliary Dyskinesia, Primary, 1 Details pageDisease Ciliary Dyskinesia, Primary, 10 Details pageDisease Ciliary Dyskinesia, Primary, 11 Details pageDisease Ciliary Dyskinesia, Primary, 12 Details pageDisease Ciliary Dyskinesia, Primary, 13 Details pageDisease Ciliary Dyskinesia, Primary, 14 Details pageDisease Ciliary Dyskinesia, Primary, 15 Details pageDisease Ciliary Dyskinesia, Primary, 16 Details pageDisease Ciliary Dyskinesia, Primary, 17 Details pageDisease Ciliary Dyskinesia, Primary, 18 Details pageDisease Ciliary Dyskinesia, Primary, 19 Details pageDisease Ciliary Dyskinesia, Primary, 20 Details pageDisease Ciliary Dyskinesia, Primary, 21 Details pageDisease Ciliary Dyskinesia, Primary, 22 Details pageDisease Ciliary Dyskinesia, Primary, 23 Details pageDisease Ciliary Dyskinesia, Primary, 24 Details pageDisease Ciliary Dyskinesia, Primary, 25 Details pageDisease Ciliary Dyskinesia, Primary, 26 Details pageDisease Ciliary Dyskinesia, Primary, 27 Details pageDisease Ciliary Dyskinesia, Primary, 28 Details pageDisease Ciliary Dyskinesia, Primary, 29 Details pageDisease Ciliary Dyskinesia, Primary, 3 Details pageDisease Ciliary Dyskinesia, Primary, 30 Details pageDisease Ciliary Dyskinesia, Primary, 32 Details pageDisease Ciliary Dyskinesia, Primary, 33 Details pageDisease Ciliary Dyskinesia, Primary, 35 Details pageDisease Ciliary Dyskinesia, Primary, 5 Details pageDisease Ciliary Dyskinesia, Primary, 6 Details pageDisease Ciliary Dyskinesia, Primary, 7 Details pageDisease Ciliary Dyskinesia, Primary, 9 Details page
Do Class Name
genetic disease; syndrome
Disease Type
diseasegroup
Hpo Class Name
Abnormality of the respiratory system
Do Disease Class
syndrome; genetic disease
Hpo Disease Class
Abnormality of the respiratory system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Ciliary Dyskinesia, Primary, 1
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 10
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 11
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 12
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 13
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 14
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 15
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 16
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 17
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 18
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 19
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 20
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 21
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 22
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 23
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 24
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 25
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 26
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 27
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 28
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 29
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 30
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 32
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 33
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 35
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 7
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Name
Ciliary Dyskinesia, Primary, 9
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Reproductive diseases;Respiratory diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract.|MSH2017_2016_08_12:An autosomal recessive disorder characterized by a triad of DEXTROCARDIA; INFERTILITY; and SINUSITIS. The syndrome is caused by mutations of DYNEIN genes encoding motility proteins which are components of sperm tails, and CILIA in the respiratory and the reproductive tracts.Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD pati
Me Sh Disease Class
Cardiovascular Diseases; Otorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular DiseasesStomatognathic Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome