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:
expandBlepharoptosis (D001763)
Parent Node:
expandBone Diseases, Developmental (D001848)
Parent Node:
expandHearing Loss, Conductive (D006314)
..Starting node
..expandDeafness conductive ptosis skeletal anomalies (C535993)

       Child Nodes:



 Sister Nodes: 
..expandAbruzzo Erickson syndrome (C535559)
..expandCleft Palate, Deafness, and Oligodontia (C565844)
..expandDeafness conductive ptosis skeletal anomalies (C535993)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDeafness, Conductive Stapedial, with Ear Malformation and Facial Palsy (C565123)
..expandDeafness, Conductive, with Malformed External Ear (C565644)
..expandDeafness, Neural, with Atypical Atopic Dermatitis (C565639)
..expandDeafness, Progressive, With Stapes Fixation (C563316)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGOMBO syndrome (C537284)
..expandMastocytosis, cutaneous, with short stature, conductive hearing loss and microtia (C536033)
..expandMengel Konigsmark syndrome (C537239)
..expandMetaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..expandMicrotia, meatal atresia and conductive deafness (C537469)
..expandMitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones (C563572)
..expandProgressive hearing loss stapes fixation (C536424)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandSchweitzer Kemink Graham syndrome (C536511)
..expandSiegler Brewer Carey syndrome (C537335)
..expandStoll Levy Francfort syndrome (C537498)
..expandZunich neuroectodermal syndrome (C536729)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:3099
Name:Deafness conductive ptosis skeletal anomalies
Definition:
Alternative IDs:
ParentIDs:MESH:D001763|MESH:D001848|MESH:D006314
TreeNumbers:C05.116.099/C535993 |C09.218.458.341.562/C535993 |C10.597.751.418.341.562/C535993 |C11.338.204/C535993 |C23.888.592.763.393.341.562/C535993
Synonyms:Deafness, Conductive, with Ptosis and Skeletal Anomalies |Jackson Barr syndrome
Slim Mappings:Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C535993
MeSH: C535993
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants