Lista chorób rzadkich*

519335 - OBSOLETE: Inflammatory/autoimmune optic neuropathy

519337 - Disorder with optic nerve compression

519339 - Pseudopapilledema

519341 - Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature

519343 - Rare ophthalmic disorder with cortical involvement

519345 - Rare disorder with optic disc malformation

519347 - Rare neuromuscular disorder with ocular motility/alignment anomaly

519349 - Rare ophthalmic disorder with cranial nerve involvement

519351 - Rare optic nerve disorder

519353 - Rare trochlear nerve disorder

519355 - Rare ocular motility/alignment disorder

519357 - OBSOLETE: Syndromic malformation of the optic disc

519384 - Congenital cystic eye

519386 - Isolated congenital entropion

519388 - Autosomal recessive anterior segment dysgenesis

519390 - Isolated blepharochalasis

519392 - Isolated iridoschisis

519394 - OBSOLETE: Isolated microphakia

519396 - Isolated microspherophakia

519398 - Isolated foveal hypoplasia

519400 - Peripapillary staphyloma

519402 - Isolated megalopapilla

519404 - Optic disc pit

519406 - Thygeson superficial punctate keratitis

519408 - Mooren ulcer

519410 - Terrien marginal degeneration

519930 - Fungal keratitis

520814 - Rare disorder of the visual organs

520817 - Isolated inherited retinal disorder

520820 - Progressive external ophthalmoplegia

521123 - Radiation-induced plexopathy

521127 - Osteoradionecrosis of the mandible

521132 - Radiation-induced disorder

521219 - Mirizzi syndrome

521232 - Genetic primary orthostatic disorder

521236 - Primary orthostatic disorder

521258 - Xq25 microduplication syndrome

521268 - OBSOLETE: SLC5A6-CDG

521305 - Proximal myopathy with focal depletion of mitochondria

521308 - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

521399 - NON RARE IN EUROPE: Non rare obesity

521406 - Dystonia-parkinsonism-hypermanganesemia syndrome

521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD

521426 - PLAA-associated neurodevelopmental disorder

521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

521438 - Congenital vertebral-cardiac-renal anomalies syndrome

521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

521450 - LAMA5-related multisystemic syndrome

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