• Afibrinogenemi
• Alagille
• Alexanders sykdom
• Alfa-mannosidose
• Alport
• Analatresi
• Ashermans syndrom
• Aspartylglycosaminuri
• Autoimmunt stivhetssyndrom
• Beckwith-Wiedemann syndrom
• Beta-mannosidose
• Blæreekstrofi/epispadi
• Canavans sykdom
• CHARGE syndrom
• Chiari malformasjon type 1 ^ny
• Cornelia de Langes syndrom
• Costellos syndrom
• Cri du chat syndrom
• Cystinose
• DiGeorges syndrom
• Ehlers-Danlos syndrom
• Epidermolysis bullosa
• Fanconis anemi
• Freeman-Sheldon spektrum
• Gauchers sykdom
• Goldenhar syndrom
• Gorlin syndrom
• Irukandji syndrom
• Kabuki syndrom ^ny
• Karbohydratmangel glykoproteinsyndrom
• KBG
• Krabbes sykdom
• Langerhans-celle histiocytose
• Laurence-Moon-Bardet-Biedl syndrom
• Leiners sykdom
• Lysosymale sykdommer
• McArdles sykdom
• MPS I(H)
• MPS I(S)
• MPS II
• MPS VI
• Mukopolysakkaridoser
• Netherton syndrom
• Nevrofibromatose
• Osteogenesis imperfecta
• Osteopetrose
• Poland syndrom
• Prader-Willi syndrom
• Sallas sykdom
• Sandhoffs sykdom
• Susacs syndrom
• Tay-Sachs sykdom
• TORCH
• Treacher Collins syndrom
• Aagenæs syndrom
• Aarskog syndrom

Lenkesamling sjeldne sykdommer

• Adrenoleukodystrofi
• Adrenomyelonevropati
• Aicardi-Goutières sykdom
• Alpers sykdom
• Angelmans syndrom
• Aniridi
• Apert syndrom
• APS 1
• Aspartylglykosaminuri
• Ataksier, arvelige
• Ataxia telangiektasia
• Cleidocranial dysplasi
• Cockaynes syndrom
• Coffin-Siris syndrom
• Cohens syndrom
• Crouzon syndrom
• Dystrofia myotonica
• Ektodermale dysplasier
• Ellis van Creveld
• Emery-Dreyfuss' muskeldystrofi
• Fahrs sykdom
• FOP
• Friedreichs ataksi
• FSHMD
• Galaktosemi
• Gallegangsatresi
• Genitale anomalier
• Glutarsyreuri
• Hemihypertrofisyndromer
• Hemiplegi, alternerende
• Hereditær spastisk paraparese
• Hvit substans-sykdommer
• INCL
• Incontinentia Pigmenti
• Infantil neuroaksonal dystrofi
• JNCL
• Jouberts syndrom
• Kallmanns syndrom
• Karbohydratdefekt glykoproteinsykdom
• Kearn-Sayres syndrom
• Kjønnskromosomforstyrrelse
• Klinefelters syndrom
• Klippel-Trenaunay-Webers syndrom
• Koanalatresi
• LCAT-mangel
• Leberes kongenitale amaurose
• Lebers hereditære opticusnevro-r...
• Leighs syndrom
• Lesch-Nyhans syndrom
• Leukocyttadhesjonsdefekt
• Limb-girdle muskeldystrofi
• LINCL
• Lissencephali
• Maple Syrup Urine Disease
• Marinesco-Sjögrens syndrom
• Mastocytose
• MELAS

• Melnick-Needles syndrom
• Menkes syndrom
• MERRF
• Metakromatisk leukodystrofi
• Metylmalonsyreemi
• Migrasjonsforstyrrelser
• Miller-Diekers syndrom
• Mitokondriemyopatier
• MNGIE
• MPS IV
• MPS VII
• Muenke syndrom
• Mukolipidose type I
• Mukolipidose type II og III
• Muskeldystrofi, medfødt
• Möbius' syndrom
• Nevrodegenerative sykdommer
• Nevromuskulære sykdommer
• Niemann-Picks sykdom
• Noonans syndrom
• OTD
• Overvekstsyndromer
• Owrens sykdom
• Pearsons syndrom
• Pelizaeus-Merzbachers sykdom
• Pfeiffer syndrom
• Phelan-McDermids syndrom
• PKAN
• Polynevropatier, arvelige
• Pompes sykdom
• Premature aldringstilstander
• Propionsyreemi
• Proteus' syndrom
• Retts syndrom
• Rieger syndrom
• Rubinstein-Taybis syndrom
• Saethre-Chotzen syndrom
• Sanfilippos sykdom
• Schwannomatose
• SIOD
• Sjeldne kromosomavvik
• Smith-Magenis syndrom
• Sotos' syndrom
• Spinal muskelatrofi
• Trippel X syndrom
• Trisomi 13
• Trisomi 18
• TRP type 1
• Tumoral calcinose
• Utviklingshemning uten kjent årsak
• von Hippel-Lindaus syndrom
• Weaver syndrom
• Williams' syndrom
• Wolf-Hirschhorns syndrom
• Øsofagusatresi