MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
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disease by cellular component affected (MONDO:0021197)
Parent Node:
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inherited genetic disease (MONDO:0003847)
..Starting node
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ciliopathy ()

       Child Nodes:
........expandJoubert syndrome ()
........expandMarden-Walker syndrome ()
........expandnephropathy-associated ciliopathy ()
........expandprimary ciliary dyskinesia ()
........expandretinal ciliopathy ()



 Sister Nodes: 
..expandAABT ()
..expandAchard syndrome ()
..expandAchoo syndrome ()
..expandacroleukopathy, symmetric ()
..expandacromegaloid changes, cutis verticis gyrata, and corneal leukoma ()
..expandacromial dimples ()
..expandacylase, cobalt-activated ()
..expandadenosine deaminase, elevated, hemolytic anemia due to ()
..expandadenosine triphosphatase deficiency, anemia due to ()
..expandamastia, bilateral, with ureteral triplication and dysmorphism ()
..expandamelia and terminal transverse hemimelia ()
..expandamenorrhea-galactorrhea syndrome ()
..expandamyotrophic dystonic paraplegia ()
..expandanal sphincter dysplasia ()
..expandanal sphincter myopathy, internal ()
..expandaniridia, microcornea, and spontaneously Reabsorbed cataract ()
..expandanisocoria (disease) ()
..expandankyloglossia ()
..expandannular erythema ()
..expandanonychia-ectrodactyly ()
..expandanonychia-onychodystrophy with brachydactyly type b and ectrodactyly ()
..expandAntipyrine metabolism ()
..expandantiviral state repressor, regulator of ()
..expandaortic arch interruption, facial palsy, and retinal coloboma ()
..expandarbitrary restriction polymorphism 1 ()
..expandarcus senilis ()
..expandarms, malformation of ()
..expandarteries, anomalies of ()
..expandarteritis, familial granulomatous, with juvenile polyarthritis ()
..expandarthritis, sacroiliac ()
..expandasymmetric short stature syndrome ()
..expandaurocephalosyndactyly ()
..expandAxenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ()
..expandazotemia, familial ()
..expandB-cell growth factor ()
..expandbladder diverticulum (disease) ()
..expandblepharochalasis, superior ()
..expandbone pain, periodic ()
..expandBrachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay ()
..expandbrachymesomelia-renal syndrome ()
..expandBrachymetatarsus 4 ()
..expandbranchial myoclonus with spastic paraparesis and cerebellar ataxia ()
..expandbundle branch block, familial isolated complete right ()
..expandbutyrylesterase 1 ()
..expandcalcific aortic disease with immunologic abnormalities, familial ()
..expandcamptodactyly syndrome, Guadalajara ()
..expandcancer, familial, with in vitro Radioresistance ()
..expandcerebelloparenchymal disorder ()
..expandChiari malformation ()
..expandciliopathy ()
..expandcongenital T-cell immunodeficiency ()
..expandcorneal granular dystrophy ()
..expandfamilial abdominal aortic aneurysm ()
..expandfamilial cardiomyopathy ()
..expandfamilial hemolytic anemia ()
..expandfamilial juvenile hypertrophy of the breast ()
..expandfamilial nephrotic syndrome ()
..expandfamilial polycythemia ()
..expandfebrile seizures, familial ()
..expandgastroesophageal reflux disease ()
..expandhereditary nephritis ()
..expandhyperimmunoglobulin syndrome ()
..expandinherited aplastic anemia ()
..expandinherited bleeding disorder, platelet-type ()
..expandmonogenic disease ()
..expandPr interval, variation 1N ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5308
Name:ciliopathy
Definition:A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:ciliopathies
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal