MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandmyotonic dystrophy (MONDO:0016107)
Parent Node:
expandsyndromic cataract (MONDO:0020225)
..Starting node
..expandmyotonic cataract ()

       Child Nodes:



 Sister Nodes: 
..expandAl-Gazali syndrome ()
..expandanterior segment dysgenesis 7 ()
..expandautosomal dominant cataract ()
..expandautosomal dominant non-nuclear cataract ()
..expandAyme-Gripp syndrome ()
..expandbhaskar jagannathan syndrome ()
..expandcataract - congenital heart disease - neural tube defect syndrome ()
..expandcataract - microcornea syndrome ()
..expandcataract-aberrant oral frenula-growth delay syndrome ()
..expandcataract-glaucoma syndrome ()
..expandcataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome ()
..expandcataract-hypertrichosis-intellectual disability syndrome ()
..expandcataract-intellectual disability-anal atresia-urinary defects syndrome ()
..expandcataract-intellectual disability-hypogonadism syndrome ()
..expandchromosomal anomaly with cataract ()
..expandcochleosaccular degeneration-cataract syndrome ()
..expandcongenital cataract-hearing loss-severe developmental delay syndrome ()
..expandcongenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ()
..expandcongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome ()  LSDB  L: 00045;
..expandfamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..expandfine-Lubinsky syndrome ()
..expandhereditary hyperferritinemia with congenital cataracts ()
..expandhereditary spastic paraplegia 9A ()
..expandhypergonadotropic hypogonadism-cataract syndrome ()
..expandhypomyelinating leukodystrophy 5 ()
..expandintellectual disability-cataracts-kyphosis syndrome ()
..expandjuvenile cataract-microcornea-renal glucosuria syndrome ()
..expandKozlowski Rafinski Klicharska syndrome ()
..expandlethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome ()  LSDB  L: 00522;
..expandmicrocephaly-congenital cataract-psoriasiform dermatitis syndrome ()
..expandMRCS syndrome ()
..expandmyotonic cataract ()
..expandNathalie syndrome ()
..expandneurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination ()
..expandNorrie disease ()
..expandpersistent hyperplastic primary vitreous ()
..expandspondylo-ocular syndrome ()
..expandsyndromic aniridia ()
..expandsystemic disease with cataract ()
..expandVici syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4495
Name:myotonic cataract
Definition:A cataract occurring as a sequela of myotonic dystrophy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal