Lista chorób rzadkich*

96186 - Maternal uniparental disomy of chromosome 20

96187 - Maternal uniparental disomy of chromosome 21

96188 - Maternal uniparental disomy of chromosome 22

96190 - Paternal uniparental disomy of chromosome 5

96191 - Paternal uniparental disomy of chromosome 6

96192 - Paternal uniparental disomy of chromosome 7

96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

96194 - Paternal uniparental disomy of chromosome 20

96195 - Paternal uniparental disomy of chromosome 21

96201 - X small rings

96210 - Rare genetic deafness

96253 - Cushing disease

96256 - Somatotropic adenoma

96263 - 48,XXXY syndrome

96264 - 49,XXXXY syndrome

96265 - Leydig cell hypoplasia due to complete LH resistance

96266 - Leydig cell hypoplasia due to partial LH resistance

96269 - Isolated partial vaginal agenesis

96321 - Polyploidy

96325 - Isochromosome Y

96333 - Rare otorhinolaryngological malformation

96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

96344 - Rare gynecologic or obstetric disease

96346 - Anorectal malformation

96369 - Early-onset schizophrenia

97120 - Distal arthrogryposis

97214 - Eisenmenger syndrome

97229 - Riboflavin transporter deficiency

97230 - Solar urticaria

97231 - Ligneous conjunctivitis

97232 - Fingerprint body myopathy

97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency

97238 - Rippling muscle disease

97239 - Reducing body myopathy

97240 - Zebra body myopathy

97242 - Congenital muscular dystrophy

97244 - Rigid spine syndrome

97245 - Congenital myopathy

97249 - Pontocerebellar hypoplasia type 3

97252 - Mega-cisterna magna

97253 - Neuroendocrine tumor of pancreas

97261 - GRFoma

97275 - Encephalitis

97278 - PPoma

97279 - Insulinoma

97280 - Glucagonoma

97282 - VIPoma

97283 - Somatostatinoma

97285 - Thyroid lymphoma

97286 - Carney-Stratakis syndrome

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