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:
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Congenital Abnormalities (D000013)
Parent Node:
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Eye Diseases (D005128)
..Starting node
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Eye Abnormalities (D005124)

       Child 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)



 Sister Nodes: 
..expandAsthenopia (D001248)
..expandCogan Syndrome (D055952) Child2
..expandConjunctival Diseases (D003229) Child29
..expandCorneal Diseases (D003316) Child120
..expandEncephalocraniocutaneous lipomatosis (C535736)
..expandExudative Vitreoretinopathy 4 (C566619)
..expandExudative Vitreoretinopathy 5 (C567648)
..expandEye Abnormalities (D005124) Child208
..expandEye Diseases, Hereditary (D015785) Child373
..expandEye Hemorrhage (D005130) Child6
..expandEye Infections (D015817) Child25
..expandEye Injuries (D005131) Child7
..expandEye Manifestations (D005132) Child9
..expandEye Neoplasms (D005134) Child20
..expandEyelid Diseases (D005141) Child64
..expandHernandez Fragoso syndrome (C536062)
..expandLacrimal Apparatus Diseases (D007766) Child18
..expandLens Diseases (D007905) Child166
..expandMollica Pavone Antener syndrome (C535809)
..expandMORM syndrome (C536984)
..expandNeuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance (C563517)
..expandOcular Hypertension (D009798) Child52
..expandOcular Hypotension (D015814)
..expandOcular Motility Disorders (D015835) Child109
..expandOptic Nerve Diseases (D009901) Child69
..expandOrbital Diseases (D009916) Child17
..expandPupil Disorders (D011681) Child20
..expandRefractive Errors (D012030) Child57
..expandRetinal Diseases (D012164) Child287
..expandScleral Diseases (D015422) Child3
..expandUveal Diseases (D014603) Child59
..expandVision Disorders (D014786) Child84
..expandVitreoretinopathy, Proliferative (D018630) Child5
..expandVitreous Detachment (D020255) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4045
Name:Eye Abnormalities
Definition:Congenital absence of or defects in structures of the eye; may also be hereditary.
Alternative IDs:
ParentIDs:MESH:D000013|MESH:D005128
TreeNumbers:C11.250 |C16.131.384
Synonyms:Abnormalities, Eye |Abnormality, Eye |Eye Abnormality
Slim Mappings:Congenital abnormality|Eye disease
Reference: MedGen: D005124
MeSH: D005124
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants