MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Disease Browser
Parent Node:
expandeye disease (MONDO:0005328)
..Starting node
..expandrare disease with glaucoma as a major feature ()

       Child Nodes:
........expandAlagille syndrome ()
........expandaniridia-cerebellar ataxia-intellectual disability syndrome ()
........expandAxenfeld-Rieger syndrome ()
........expandchromosome 6pter-p24 deletion syndrome ()
........expandclassic homocystinuria ()
........expanddyssegmental dysplasia-glaucoma syndrome ()
........expandglaucoma-sleep apnea syndrome ()
........expandisolated Pierre-Robin syndrome ()
........expandLowry-MacLean syndrome ()
........expandMarshall syndrome ()
........expandMeckel syndrome ()
........expandmegalocornea-intellectual disability syndrome ()
........expandMelnick-Needles syndrome ()
........expandmicrophthalmia with linear skin defects syndrome ()
........expandmucopolysaccharidosis ()
........expandoculocerebrorenal syndrome ()
........expandoculofaciocardiodental syndrome ()
........expandPeters plus syndrome ()
........expandphakomatosis pigmentovascularis ()
........expandRubinstein-Taybi syndrome ()
........expandSHORT syndrome ()
........expandStickler syndrome ()
........expandSturge-Weber syndrome ()
........expandvon Hippel-Lindau disease ()
........expandWAGR syndrome ()
........expandWeill-Marchesani syndrome ()



 Sister Nodes: 
..expandacute annular outer retinopathy ()
..expandacute zonal occult outer retinopathy ()
..expandasthenopia ()
..expandblindness - scoliosis - arachnodactyly syndrome ()
..expandchondroectodermal dysplasia with night blindness ()
..expandcoloboma ()
..expandconjunctival disorder ()
..expandconnective tissue disease with eye involvement ()
..expandcorneal disease ()
..expanddevelopmental defect of the eye ()
..expandectodermal malformation syndrome associated with ocular features ()
..expandexophthalmos (disease) ()
..expandextensive peripapillary myelinated nerve fibers ()
..expandeye accommodation disease ()
..expandeye allergy ()
..expandeye degenerative disease ()
..expandeye infectious disease ()
..expandeye neoplasm ()
..expandeyelid disease ()
..expandgenodermatosis with ocular features ()
..expandglaucoma (disease) ()
..expandglobal developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ()
..expandglobe disease ()
..expandhereditary optic neuropathy ()
..expandkeratomalacia ()
..expandlacrimal apparatus disease ()
..expandlens and zonula anomaly ()
..expandlens disease ()
..expandmetabolic disease associated with ocular features ()
..expandmicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ()
..expandmicrophthalmia ()
..expandneuro-ophthalmological disease ()
..expandocular hypertension ()
..expandocular hypotension ()
..expandocular siderosis ()
..expandocular vascular disease ()
..expandophthalmia nodosa ()
..expandoptic neuritis ()
..expandpigment dispersion syndrome ()
..expandptosis (disease) ()
..expandrare disease with glaucoma as a major feature ()
..expandrare genetic refraction anomaly ()
..expandrare inflammatory eye disease ()
..expandrare refraction anomaly ()
..expandred color blindness ()
..expandrefractive error ()
..expandretinal disease ()
..expandscleral disease ()
..expandscotoma (disease) ()
..expandSpasmus nutans (disease) ()
..expandtoxic maculopathy due to antimalarial drugs ()
..expanduveal disease ()
..expandvisual snow syndrome ()
..expandvitreous body disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:20222
Name:rare disease with glaucoma as a major feature
Definition:
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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