MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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Disease Browser
Parent Node:
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autosomal recessive disease (MONDO:0006025)
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cryptophthalmia (MONDO:0020153)
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syndromic anorectal malformation (MONDO:0015246)
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syndromic developmental defect of the eye (MONDO:0015218)
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syndromic genetic deafness (MONDO:0019589)
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syndromic renal or urinary tract malformation (MONDO:0019721)
..Starting node
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Fraser syndrome ()

       Child Nodes:
........expandFraser syndrome 1 ()
........expandFraser syndrome 2 ()
........expandFraser syndrome 3 ()



 Sister Nodes: 
..expand22q11.2 deletion syndrome ()
..expand8q24.3 microdeletion syndrome ()
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..expandAlagille syndrome ()
..expandaniridia-renal agenesis-psychomotor retardation syndrome ()
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..expandatherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome ()
..expandaxial mesodermal dysplasia spectrum ()
..expandBeckwith-Wiedemann syndrome ()
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..expanddyschondrosteosis-nephritis syndrome ()
..expandEEC syndrome ()
..expandEllis-van Creveld syndrome ()
..expandfaciocardiorenal syndrome ()
..expandFibulo-ulnar hypoplasia-renal anomalies syndrome ()
..expandFraser syndrome ()
..expandholoprosencephaly-radial heart renal anomalies syndrome ()
..expandhydrocephalus-blue sclerae-nephropathy syndrome ()
..expandhypoparathyroidism-deafness-renal disease syndrome ()
..expandichthyosis-intellectual disability-dwarfism-renal impairment syndrome ()
..expandinfundibulopelvic stenosis-multicystic kidney syndrome ()
..expandMayer-Rokitansky-Kuster-Hauser syndrome ()
..expandMeckel syndrome ()
..expandmegacystis-microcolon-intestinal hypoperistalsis syndrome ()
..expandmulticentric carpo-tarsal osteolysis with or without nephropathy ()
..expandmultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ()
..expandnephrosis-deafness-urinary tract-digital malformations syndrome ()
..expandneurofaciodigitorenal syndrome ()
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..expandoculo-skeletal-renal syndrome ()
..expandorofaciodigital syndrome I ()
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..expandrenal caliceal diverticuli-deafness syndrome ()
..expandrenal coloboma syndrome ()
..expandrenal cysts and diabetes syndrome ()
..expandrenal nutcracker syndrome ()
..expandrenal-genital-middle ear anomalies ()
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..expandspastic paraplegia-nephritis-deafness syndrome ()
..expandStromme syndrome ()
..expandtall stature-intellectual disability-renal anomalies syndrome ()
..expandThomas syndrome ()
..expandthymic-renal-anal-lung dysplasia ()
..expandthyrocerebrorenal syndrome ()
..expandTownes-Brocks syndrome ()
..expandtrisomy 13 ()
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..expandVACTERL/vater association ()
..expandWAGR syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9046
Name:Fraser syndrome
Definition:Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:cryptophthalmos syndrome; cryptophthalmos with Other malformations; cryptophthalmos with other malformations; cryptophthalmos-syndactyly syndrome; cyclopism; Fraser syndrome; Fraser-Francois syndrome; Meyer-Schwickerath's syndrome; Ulrich-Feichtiger syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: FERMT1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal