loading...| Preferred Name |
ciliopathy |
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| Synonyms |
Ciliary Motility Disorder CILIARY MOTILITY DIS Cilia Syndrome, Immotile Disorders, Ciliary Motility Dyskinesia, Ciliary Disorder, Ciliary Motility Immotile Cilia Syndrome Immotile Cilia Syndromes Syndrome, Immotile Cilia Cilia Syndromes, Immotile Dyskinesias, Ciliary Syndromes, Immotile Cilia Ciliary Dyskinesias Ciliary Dyskinesia Ciliary Motility Disorders ciliopathy ciliopathies |
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| Definitions |
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0003900 |
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| database_cross_reference |
MeSH:D002925 SNOMEDCT:86204009 OMIM:244400 GARD:21544 DOID:0060340 Orphanet:363250 UMLS:C4277690 MONDO:0005308 GTR:AN0966173 |
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| definition |
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. |
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| disease has basis in dysfunction of | ||
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0060340 |
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| has_exact_synonym |
Ciliary Motility Disorder CILIARY MOTILITY DIS Cilia Syndrome, Immotile Disorders, Ciliary Motility Dyskinesia, Ciliary Disorder, Ciliary Motility Immotile Cilia Syndrome Immotile Cilia Syndromes Syndrome, Immotile Cilia Cilia Syndromes, Immotile Dyskinesias, Ciliary Syndromes, Immotile Cilia Ciliary Dyskinesias Ciliary Dyskinesia Ciliary Motility Disorders ciliopathy |
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| has_related_synonym |
ciliopathies |
|
| id |
EFO:0003900 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
ciliopathy |
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| notation |
EFO:0003900 |
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| prefLabel |
ciliopathy |
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| term editor |
Tomasz Adamusiak |
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| subClassOf |