Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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)
..expandBehr syndrome (C537669)
..expandBranchial arch syndrome X-linked (C537102)
..expandCATSHL syndrome (C537975)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDeafness (D003638) Child108
..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)
..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
..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)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..expandOptic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
..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, CTD
Term ID:3109
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: 125230;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001596Alopecia
3 HP:0000324Facial asymmetry
4 HP:0002007Frontal bossing
5 HP:0000365Hearing impairment
6 HP:0000200Short lingual frenulum
7 HP:0000430Underdeveloped nasal alae
8 HP:0000431Wide nasal bridge
Disease Causing ClinVar Variants