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:
expandEye Abnormalities (D005124)
..Starting node
..expandOculoauricular Syndrome (C567416)

       Child Nodes:



 Sister Nodes: 
..expandAblepharon macrostomia syndrome (C535557)
..expandAniridia (D015783) Child10
..expandAnkyloblepharon filiforme adnatum cleft palate (C536373)
..expandAnophthalmos (D000853) Child8
..expandAnterior segment mesenchymal dysgenesis (C537775)
..expandAsymmetric Short Stature Syndrome (C566248)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBlepharophimosis (D016569) Child17
..expandBlue diaper syndrome (C536239)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandChemke Oliver Mallek syndrome (C535922)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandCODAS syndrome (C536434)
..expandCole Carpenter syndrome (C535963)
..expandColoboma (D003103) Child43
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCryptophthalmos, Unilateral or Bilateral, Isolated (C565138)
..expandDwarfism stiff joint ocular abnormalities (C535724)
..expandEctopia Lentis (D004479) Child13
..expandFACES syndrome (C536384)
..expandFoveal Hypoplasia and Anterior Segment Dysgenesis (C563774)
..expandFraser Syndrome (D058497)
..expandFronto-facio-nasal dysplasia (C538063)
..expandFrontoocular Syndrome (C565340)
..expandGoniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..expandHay-Wells syndrome (C535847)
..expandHydrophthalmos (D006871)
..expandIridogoniodysgenesis and skeletal anomalies (C535534)
..expandIridogoniodysgenesis type1 (C535535)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandJejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert Syndrome 9 (C567364)
..expandKapur Toriello syndrome (C537008)
..expandKaufman oculocerebrofacial syndrome (C537013)
..expandMacrophthalmia, Colobomatous, with Microcornea (C566533)
..expandMaxillofacial Dysostosis (C563599)
..expandMesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..expandMicrocornea, glaucoma, and absent frontal sinuses (C537552)
..expandMicrophthalmos (D008850) Child57
..expandMOMES Syndrome (C564660)
..expandNephrotic syndrome ocular anomalies (C536403)
..expandNephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..expandOculoauricular Syndrome (C567416)
..expandOculoauriculofrontonasal syndrome (C537865)
..expandOculocerebrocutaneous syndrome (C538088)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculomaxillofacial dysostosis (C537736)
..expandOculopalatocerebral Syndrome (C564935)
..expandOculopalatoskeletal syndrome (C537738)
..expandOculorenocerebellar syndrome (C537739)
..expandPena Shokeir syndrome Type 2 (C536646)
..expandPersistent Hyperplastic Primary Vitreous (D054514)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPeters anomaly (C537884)
..expandPHACE association (C537892)
..expandPierson syndrome (C537185)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandPrepapillary Vascular Loops (C563287)
..expandPupil, Egg-Shaped (C566731)
..expandPupillary Membrane, Persistence Of (C562700)
..expandRetinal Dysplasia (D015792) Child2
..expandRieger syndrome 2 (C535680)
..expandRozin Hertz Goodman syndrome (C535876)
..expandTorsion dystonia with onset in infancy (C536969)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8172
Name:Oculoauricular Syndrome
Definition:
Alternative IDs:OMIM:612109
ParentIDs:MESH:D005124
TreeNumbers:C11.250/C567416 |C16.131.384/C567416
Synonyms:MICROPHTHALMIA, MICROCORNEA, ANTERIOR SEGMENT DYSGENESIS, CATARACT, OCULAR COLOBOMA, RETINAL PIGMENT EPITHELIUM ABNORMALITIES, ROD-CONE DYSTROPHY, AND ANOMALIES OF THE EXTERNAL EAR
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: C567416
MeSH: C567416
OMIM: 612109;

Genes: HMX1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000518Cataract
3 HP:0000589Coloboma
4 HP:0001104Macular hypoplasia
5 HP:0000482Microcornea
6 HP:0012376Microphakia
7 HP:0000568Microphthalmia
8 HP:0000639Nystagmus
9 HP:0007700Ocular anterior segment dysgenesis
10 HP:0007906Ocular hypertension
11 HP:0000510Rod-cone dystrophy
12 HP:0000647Sclerocornea
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_018942.2(HMX1):c.650A>C (p.Gln217Pro)3166HMX1Pathogenic-1RCV000172907; NMedGen:C2677500,OMIM:612109,ORPHA:157962488698168869816NM_018942.2:c.650A>CNP_061815.2:p.Gln217ProOMIM Allelic Variant:142992.0002C2677500 612109 Oculoauricular syndrome