MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expandFacies (D019066)
Parent Node:
expandHearing Loss (D034381)
..Starting node
..expandDeafness-Craniofacial Syndrome (C565118)

       Child Nodes:



 Sister Nodes: 
..expandAbidi X-linked mental retardation syndrome (C535556)
..expandATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS (OMIM:616192)
..expandBehr syndrome (C537669)
..expandBranchial arch syndrome X-linked (C537102)
..expandCATSHL syndrome (C537975)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCOLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
..expandCONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandDeafness (D003638) Child108  LSDB C:2
..expandDeafness with Anhidrotic Ectodermal Dysplasia (C565119)
..expandDeafness, Autosomal Dominant, Due To Mutation In Myo1a (C567266)
..expandDeafness, Autosomal Recessive 36, Without Vestibular Involvement (C567219)
..expandDeafness, Congenital Heart Defects, and Posterior Embryotoxon (C566604)
..expandDeafness, Unilateral, With Delayed Endolymphatic Hydrops (C567420)
..expandDeafness-Craniofacial Syndrome (C565118)
..expandEHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..expandEPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
..expandHearing Loss, Bilateral (D006312) Child5
..expandHEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO (OMIM:613290)
..expandHearing Loss, Conductive (D006314) Child21
..expandHearing Loss, Functional (D006315)
..expandHearing Loss, High-Frequency (D006316)
..expandHearing Loss, Mixed Conductive-Sensorineural (D046089) Child3
..expandHearing Loss, Sensorineural (D006319) Child252  LSDB C:8
..expandHearing Loss, Sudden (D003639)
..expandHearing Loss, Unilateral (D046088) Child1
..expandIris dysplasia hypertelorism deafness (C535537)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandMicrocephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..expandMicrotia, Hearing Impairment, And Cleft Palate (C567359)
..expandMIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS (OMIM:300990)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)  LSDB  L: 00045;
..expandOptic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..expandPERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
..expandReardon Wilson Cavanagh syndrome (C535295)
..expandSpondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3457
Name:Deafness-Craniofacial Syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D019066|MESH:D034381
TreeNumbers:C09.218.458.341/C565118 |C10.597.751.418.341/C565118 |C23.550.291.812/C565118 |C23.888.592.763.393.341/C565118
Synonyms:
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C565118
MeSH: C565118
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal