Disease Browser
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Parent Node: autosomal genetic disease (MONDO:0000429) |
..Starting node ..autosomal recessive disease ()
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Child Nodes:
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........3-M syndrome () |
........achalasia microcephaly syndrome () |
........acrorenal syndrome, autosomal recessive () |
........Alstrom syndrome () |
........autosomal recessive Alport syndrome () |
........autosomal recessive Ehlers-Danlos syndrome, vascular type () |
........autosomal recessive Emery-Dreifuss muscular dystrophy () |
........autosomal recessive faciodigitogenital syndrome () |
........autosomal recessive familial Mediterranean fever () |
........autosomal recessive humeroradial synostosis () |
........autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius () |
........autosomal recessive infantile hypercalcemia () |
........autosomal recessive Kenny-Caffey syndrome () |
........autosomal recessive multiple pterygium syndrome () |
........autosomal recessive omodysplasia () |
........autosomal recessive polycystic kidney disease () |
........beta-ketothiolase deficiency () L: 00402; |
........bifid nose, autosomal recessive () |
........Bjornstad syndrome () L: 00084; |
........Bloom syndrome () |
........Bowen-Conradi syndrome () |
........brittle cornea syndrome () |
........camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia () |
........camptodactyly-arthropathy-coxa vara-pericarditis syndrome () |
........cartilage-hair hypoplasia () |
........craniometaphyseal dysplasia, autosomal recessive () |
........cystic fibrosis () |
........Donnai-Barrow syndrome () |
........Donohue syndrome () |
........Ellis-van Creveld syndrome () |
........fibular hypoplasia and complex brachydactyly () |
........Fraser syndrome () |
........Galloway-Mowat syndrome () |
........heart defects-limb shortening syndrome () |
........Hutchinson-Gilford progeria syndrome () |
........hydrocephalus, nonsyndromic, autosomal recessive 1 () |
........hydrolethalus syndrome () |
........hypertelorism, microtia, facial clefting syndrome () |
........hypoparathyroidism-retardation-dysmorphism syndrome () |
........immunodeficiency-centromeric instability-facial anomalies syndrome () |
........inherited pseudoxanthoma elasticum () |
........Johanson-Blizzard syndrome () |
........Laron syndrome () |
........Laurence-Moon syndrome () |
........lipase deficiency, combined () |
........microphthalmia with limb anomalies () |
........mulibrey nanism () |
........multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome () |
........multiple intestinal atresia () |
........myotonia congenita, autosomal recessive () |
........Nasu-Hakola disease () |
........Niemann-Pick disease () |
........Nijmegen breakage syndrome () |
........Ochoa syndrome () |
........oculodentodigital dysplasia, autosomal recessive () |
........osteoporosis-pseudoglioma syndrome () |
........persistent hyperplastic primary vitreous, autosomal recessive () |
........phenylketonuria () |
........pseudo-TORCH syndrome () |
........rapadilino syndrome () |
........Schwartz-Jampel syndrome () |
........thiamine-responsive megaloblastic anemia syndrome () |
........triple-A syndrome () |
........Vici syndrome () |
........Wolcott-Rallison syndrome () |
........Zlotogora-Ogur syndrome () |
Sister Nodes: |
..autosomal dominant disease ()
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..autosomal recessive disease ()
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..brachydactyly-syndactyly syndrome ()
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..camptodactyly-tall stature-scoliosis-hearing loss syndrome ()
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..congenital factor XI deficiency ()
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..congenital factor XII deficiency ()
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..septooptic dysplasia ()
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..Weill-Marchesani syndrome ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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