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:
expanddevelopmental defect during embryogenesis (MONDO:0019755)
Parent Node:
expandhearing loss disorder (MONDO:0005365)
Parent Node:
expandinherited auditory system disease (MONDO:0037940)
..Starting node
..expandsyndromic genetic deafness ()

       Child Nodes:
........expandAlstrom syndrome ()
........expandarthrogryposis-like hand anomaly-sensorineural deafness syndrome ()
........expandataxia - deafness - intellectual disability syndrome ()
........expandatherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ()
........expandBart-Pumphrey syndrome ()
........expandbinder syndrome ()
........expandbranchio-oto-renal syndrome ()
........expandcardiospondylocarpofacial syndrome ()
........expandcataract-ataxia-deafness syndrome ()
........expandCharcot-Marie-Tooth disease type 1E ()
........expandCharcot-Marie-Tooth disease-deafness-intellectual disability syndrome ()
........expandCHARGE syndrome ()
........expandcochleosaccular degeneration-cataract syndrome ()
........expandconductive deafness-malformed external ear syndrome ()
........expandcorneal dystrophy-perceptive deafness syndrome ()
........expandcraniofacial-deafness-hand syndrome ()
........expanddeafness-craniofacial syndrome ()
........expanddeafness-ear malformation-facial palsy syndrome ()
........expanddeafness-enamel hypoplasia-nail defects syndrome ()
........expanddeafness-intellectual disability, Martin-Probst type syndrome ()
........expanddeafness-oligodontia syndrome ()
........expanddeafness-small bowel diverticulosis-neuropathy syndrome ()
........expanddeafness-vitiligo-achalasia syndrome ()
........expandectodermal dysplasia-sensorineural deafness syndrome ()
........expandermine phenotype ()
........expandfountain syndrome ()
........expandFraser syndrome ()
........expandgingival fibromatosis-progressive deafness syndrome ()
........expandhigh myopia-sensorineural deafness syndrome ()
........expandHirschsprung disease-deafness-polydactyly syndrome ()
........expandhyperostosis cranialis interna (disease) ()
........expandhypoparathyroidism-deafness-renal disease syndrome ()
........expandJervell and Lange-Nielsen syndrome ()
........expandJohanson-Blizzard syndrome ()
........expandkeratoderma hereditarium mutilans ()
........expandmetaphyseal dysostosis-intellectual disability-conductive deafness syndrome ()
........expandmicrocephaly-deafness-intellectual disability syndrome ()
........expandmyoclonus-cerebellar ataxia-deafness syndrome ()
........expandnephropathy - deafness - hyperparathyroidism syndrome ()
........expandnephrosis-deafness-urinary tract-digital malformations syndrome ()
........expandneurofibromatosis type 2 ()  LSDB  L: 00392;
........expandNoonan syndrome with multiple lentigines ()
........expandorofaciodigital syndrome III ()
........expandorofaciodigital syndrome IV ()
........expandorofaciodigital syndrome type 6 ()
........expandorofaciodigital syndrome type II ()
........expandorofaciodigital syndrome VIII ()
........expandpalmoplantar keratoderma-deafness syndrome ()
........expandPendred syndrome ()
........expandphocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome ()
........expandRamos-Arroyo syndrome ()
........expandretinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ()
........expandriboflavin transporter deficiency ()
........expandRichards-Rundle syndrome ()
........expandsevere motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ()
........expandspastic paraplegia-nephritis-deafness syndrome ()
........expandsplit hand-foot malformation 1 with sensorineural hearing loss ()
........expandspondyloepiphyseal dysplasia, MacDermot type ()
........expandstapes ankylosis with broad thumbs and toes ()
........expandthiamine-responsive megaloblastic anemia syndrome ()
........expandthickened earlobes-conductive deafness syndrome ()
........expandthyroid hormone resistance, generalized, autosomal recessive ()
........expandTietz syndrome ()
........expandTownes-Brocks syndrome ()
........expandTreacher-Collins syndrome ()
........expandWolf-Hirschhorn syndrome ()



 Sister Nodes: 
..expandage-related hearing impairment 1 ()
..expandage-related hearing impairment 2 ()
..expandbenign paroxysmal positional nystagmus ()
..expandcongenital corneal opacities, cornea guttata, and corectopia ()
..expandMeniere disease ()
..expandmotion sickness ()
..expandnoise induced hearing loss ()
..expandnonsyndromic genetic deafness ()
..expandOTSC1 ()
..expandOTSC10 ()
..expandOTSC2 ()
..expandOTSC3 ()
..expandOTSC4 ()
..expandOTSC5 ()
..expandOTSC7 ()
..expandOTSC8 ()
..expandsyndromic genetic deafness ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19589
Name:syndromic genetic deafness
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:syndromic hearing loss
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal