orphafolder

| 79256 | GM1 gangliosidosis type 2
| 79255 | GM1 gangliosidosis type 1
| 79254 | Classic phenylketonuria
| 79261 | Glycogen storage disease type 1d
| 79260 | Glycogen storage disease type 1c
| 79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
| 79258 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
| 79246 | Pyruvate dehydrogenase phosphatase deficiency
| 79253 | Mild phenylketonuria
| 79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
| 79241 | Biotinidase deficiency
| 79238 | Galactose epimerase deficiency
| 79239 | Classic galactosemia
| 79244 | Pyruvate dehydrogenase E2 deficiency
| 79242 | Holocarboxylase synthetase deficiency
| 79243 | Pyruvate dehydrogenase E1-alpha deficiency
| 79299 | Hyperinsulinism due to glucokinase deficiency
| 79298 | Diazoxide-resistant focal hyperinsulinism
| 79301 | Congenital bile acid synthesis defect type 1
| 79289 | Niemann-Pick disease type D
| 79293 | Familial LCAT deficiency
| 79292 | Fish-eye disease
| 79278 | Autosomal erythropoietic protoporphyria
| 79279 | Alpha-N-acetylgalactosaminidase deficiency type 1
| 79280 | Alpha-N-acetylgalactosaminidase deficiency type 2
| 79281 | Alpha-N-acetylgalactosaminidase deficiency type 3
| 79282 | Methylmalonic acidemia with homocystinuria, type cblC
| 79283 | Methylmalonic acidemia with homocystinuria, type cblD
| 79284 | Methylmalonic acidemia with homocystinuria type cblF
| 79270 | Sanfilippo syndrome type B
| 79271 | Sanfilippo syndrome type C
| 79272 | Sanfilippo syndrome type D
| 79273 | Hereditary coproporphyria
| 79276 | Acute intermittent porphyria
| 79277 | Congenital erythropoietic porphyria
| 79333 | COG7-CDG
| 79332 | B4GALT1-CDG
| 79330 | MOGS-CDG
| 79329 | MGAT2-CDG
| 79328 | ALG9-CDG
| 79327 | ALG1-CDG
| 79326 | ALG2-CDG
| 79325 | ALG8-CDG
| 79324 | ALG12-CDG
| 79323 | MPDU1-CDG
| 79322 | DPM1-CDG
| 79321 | ALG3-CDG
| 79320 | ALG6-CDG
| 79319 | MPI-CDG
| 79318 | PMM2-CDG
| 79314 | L-2-hydroxyglutaric aciduria
| 79315 | D-2-hydroxyglutaric aciduria
| 79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut-
| 79310 | Vitamin B12-responsive methylmalonic acidemia type cblA
| 79311 | Vitamin B12-responsive methylmalonic acidemia type cblB
| 79306 | Progressive familial intrahepatic cholestasis type 1
| 79304 | Progressive familial intrahepatic cholestasis type 2
| 79305 | Progressive familial intrahepatic cholestasis type 3
| 79302 | Congenital bile acid synthesis defect type 3
| 79303 | Congenital bile acid synthesis defect type 2
| 79363 | Hair anomaly
| 79362 | Epidermal appendage anomaly
| 79365 | Rare disorder with hypertrichosis
| 79364 | Alopecia
| 79359 | Other epidermal disorder
| 79358 | Porokeratosis
| 79361 | Inherited epidermolysis bullosa
| 79360 | Other genetic epidermal disease
| 79355 | Erythrokeratoderma
| 79354 | Ichthyosis
| 79357 | Hereditary palmoplantar keratoderma
| 79356 | Acrokeratoderma
| 79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
| 79350 | 3-phosphoserine phosphatase deficiency
| 79353 | Epidermal disease
| 79346 | Chondrodysplasia punctata, tibial-metacarpal type
| 79347 | Chondrodysplasia punctata, Toriello type
| 79344 | Autosomal dominant chondrodysplasia punctata
| 79345 | Brachytelephalangic chondrodysplasia punctata
| 85191 | Singleton-Merten dysplasia
| 85188 | Metaphyseal dysplasia, Braun-Tinschert type
| 85193 | Idiopathic juvenile osteoporosis
| 85192 | Calvarial doughnut lesions-bone fragility syndrome
| 85195 | Familial expansile osteolysis
| 85194 | Spondylo-ocular syndrome
| 85197 | Genochondromatosis type 1
| 85196 | Nodulosis-arthropathy-osteolysis syndrome
| 85199 | Craniosynostosis-anal anomalies-porokeratosis syndrome
| 85198 | Dysspondyloenchondromatosis
| 85201 | Genitopatellar syndrome
| 85200 | Ischiovertebral syndrome
| 85203 | Acropectoral syndrome
| 85202 | Keutel syndrome
| 85273 | X-linked intellectual disability, Abidi type
| 85212 | Fetal Gaucher disease
| 85274 | Syndromic X-linked intellectual disability 7
| 85275 | Microphthalmia-ankyloblepharon-intellectual disability syndrome
| 85276 | X-linked intellectual disability, Armfield type
| 85277 | X-linked intellectual disability, Cantagrel type
| 85278 | Christianson syndrome

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