Rare Disease Library

OBSOLETE: Infantile symmetrical thalamic degeneration

OBSOLETE: Infantile thalamic degeneration

OBSOLETE: Inflammatory/autoimmune optic neuropathy

OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome

OBSOLETE: Inherited predisposition to essential thrombocythemia

OBSOLETE: Familial essential thrombocythemia

OBSOLETE: Inherited retinal disorder

OBSOLETE: Retinal dystrophy

OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome

OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome

OBSOLETE: Medrano-Roldan syndrome

OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome

OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome

OBSOLETE: Thiele syndrome

OBSOLETE: Intellectual disability-unusual facies syndrome

OBSOLETE: Morillo Cucci-Passarge syndrome

OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type

OBSOLETE: Davis-Lafer syndrome

OBSOLETE: Intermediate isolated anorectal malformation

OBSOLETE: Intermediate stomatocytosis syndrome

OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome

OBSOLETE: Intramural coronary arterial course

OBSOLETE: Isolated chorioretinal dystrophy

OBSOLETE: Isolated cloverleaf skull syndrome

OBSOLETE: Isolated facial myokymia

OBSOLETE: Isolated inherited retinal disorder

OBSOLETE: Isolated macular dystrophy

OBSOLETE: Isolated megalencephaly

OBSOLETE: Isolated macrencephaly

OBSOLETE: Isolated microphakia

OBSOLETE: Isolated optic nerve hypoplasia/aplasia

OBSOLETE: Isolated optic neuritis with anti-MOG antibodies

OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies

OBSOLETE: Isolated optic neuritis without anti-MOG antibodies

OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies

OBSOLETE: Isolated oxycephaly

OBSOLETE: Acrocephaly · OBSOLETE: Hypsicephaly

OBSOLETE: Isolated plagiocephaly

OBSOLETE: Synostotic plagiocephaly · OBSOLETE: Non-syndromic unicoronal synostosis

OBSOLETE: Isolated progressive inherited retinal disorder

OBSOLETE: Isolated stationary inherited retinal disorder

OBSOLETE: Isolated vitreoretinopathy

OBSOLETE: Ito hypomelanosis

OBSOLETE: HI syndrome · OBSOLETE: Hypomelanosis of Ito

OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type

OBSOLETE: JEN-nH

OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis

OBSOLETE: Juvenile CRMO

OBSOLETE: Juvenile neuronal ceroid lipofuscinosis

OBSOLETE: Juvenile NCL · OBSOLETE: Juvenile CLN disease

OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency

OBSOLETE: Juvenile-onset SAPHO syndrome

OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

OBSOLETE: Kenya tick typhus

OBSOLETE: Kenya tick-bite fever

OBSOLETE: Keratoconus

OBSOLETE: Kinetic eyelid anomaly

OBSOLETE: Laminopathy type Decaudain-Vigouroux

OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy

OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood

OBSOLETE: Histiocytosis X in childhood and adulthood · OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood

OBSOLETE: Langerhans cell histiocytosis specific to adulthood

OBSOLETE: Langerhans cell granulomatosis specific to adulthood · OBSOLETE: Histiocytosis X specific to adulthood

OBSOLETE: Langerhans cell histiocytosis specific to childhood

OBSOLETE: Langerhans cell granulomatosis specific to childhood · OBSOLETE: Histiocytosis X specific to childhood

OBSOLETE: Laryngeal dyskinesia

OBSOLETE: Laryngeal dystonia · OBSOLETE: Spasmodic dysphonia

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

OBSOLETE: Late infantile neuronal ceroid lipofuscinosis

OBSOLETE: Late infantile NCL · OBSOLETE: Jansky-Bielschowsky disease