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:
expandGenetic Diseases, X-Linked (D040181)
Parent Node:
expandMyopia (D009216)
..Starting node
..expandBornholm Eye Disease (C564092)

       Child Nodes:



 Sister Nodes: 
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandBlepharoptosis myopia ectopia lentis (C536236)
..expandBornholm Eye Disease (C564092)
..expandCohen syndrome (C536438)
..expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDonnai-Barrow syndrome (C536390)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGastrocutaneous syndrome (C535651)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandMASS syndrome (C536030)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyopia 1 (C564091)
..expandMyopia 10 (C563758)
..expandMyopia 11 (C566490)
..expandMyopia 12 (C566489)
..expandMyopia 13 (C564473)
..expandMyopia 14 (C565202)
..expandMyopia 15 (C567193)
..expandMyopia 16 (C567259)
..expandMyopia 18, Autosomal Recessive (C567606)
..expandMYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
..expandMyopia 2 (C563541)
..expandMYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
..expandMyopia 3 (C566397)
..expandMyopia 5 (C563922)
..expandMyopia 6 (C536105)
..expandMyopia 7 (C563761)
..expandMyopia 8 (C563760)
..expandMyopia 9 (C563759)
..expandMyopia, Degenerative (D047728)
..expandNight blindness skeletal anomalies unusual facies (C536121)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNoble Bass Sherman syndrome (C536124)
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandPolydactyly myopia syndrome (C536331)
..expandSinus Node Disease and Myopia (C566690)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1384
Name:Bornholm Eye Disease
Definition:
Alternative IDs:OMIM:300843
ParentIDs:MESH:D009216|MESH:D040181
TreeNumbers:C11.744.636/C564092 |C16.320.322/C564092
Synonyms:BED |MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C564092
MeSH: C564092
OMIM: 300843;

Genes:
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0007703Abnormality of retinal pigmentation
3 HP:0000646Amblyopia
4 HP:0000483Astigmatism
5 HP:0000654Decreased light- and dark-adapted electroretinogram amplitude
6 HP:0011521Deuteranopia
7 HP:0011003High myopia
8 HP:0000609Optic nerve hypoplasia
9 HP:0011522Protanopia
Disease Causing ClinVar Variants