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:
expandDermatitis, Atopic (D003876)
Parent Node:
expandHearing Loss, Conductive (D006314)
..Starting node
..expandDeafness, Neural, with Atypical Atopic Dermatitis (C565639)

       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:3117
Name:Deafness, Neural, with Atypical Atopic Dermatitis
Definition:
Alternative IDs:
ParentIDs:MESH:D003876|MESH:D006314
TreeNumbers:C09.218.458.341.562/C565639 |C10.597.751.418.341.562/C565639 |C16.320.850.210/C565639 |C17.800.174.193/C565639 |C17.800.815.193/C565639 |C17.800.827.210/C565639 |C20.543.480.343/C565639 |C23.888.592.763.393.341.562/C565639
Synonyms:
Slim Mappings:Ear-nose-throat disease|Genetic disease (inborn)|Immune system disease|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: C565639
MeSH: C565639
OMIM: 221700;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007573Late onset atopic dermatitis
3 HP:0003212Increased circulating IgE level
4 HP:0000407Sensorineural hearing impairment
Disease Causing ClinVar Variants