| Diagnosis | MIM number | ICD10 | Orphanet | Nr. of samples |
|---|
| ACTION MYOCLONUS-RENAL FAILURE SYNDROME (AMRF) | 254900 | | ORPHA163696 | 1 |
| ACYL-CoA DEHYDROGENASE, LONG CHAIN, DEF. | 201460 | | ORPHA99900 | 2 |
| ADENOSINE DEAMINASE | 102700 | D81.3 | ORPHA277 | 4 |
| ADRENAL HYPERPLASIA III | 201910 | E25.0 | ORPHA418 | 1 |
| ADRENOLEUKODYSTROPHY | 300100 | E71.3 | ORPHA43 | 7 |
| AGANGLIONOSIS, TOTAL INTESTINAL | 202550 | | | 5 |
| AICARDI | 304050 | Q04.0 | ORPHA50 | 1 |
| ALAGILLE | 118450 | Q44.7 | ORPHA52 | 5 |
| ALEXANDER | 203450 | G37.8 | ORPHA58 | 14 |
| ALKAPTONURIA | 203500 | E70.2 | ORPHA56 | 1 |
| ALPERS | 203700 | G31.8 | ORPHA726 | 1 |
| ANGELMAN | 105830 | Q93.5 | ORPHA72 | 38 |
| APECED | 240300 | E31.0 | ORPHA3453 | 2 |
| ARGINOSUCCINICOACIDURIA | 207900 | E72.2 | ORPHA23 | 2 |
| ARSA PSEUDODEFICIENCY | 250100001 | | | 51 |
| ARTHROGRYPOSIS MULTIPLEX CONGENITA | 108110 | Q74.3 | ORPHA1037 | 3 |
| ARTICULAR HYPERMOBILITY FAMILIAL | 147900 | | | 3 |
| ASPARTYLGLYCOSAMINURIA | 208400 | E77.1 | ORPHA93 | 6 |
| ATAXIA-TELANGIECTASIA | 208900 | G11.3 | ORPHA100 | 3 |
| AUSTIN | 272200 | E75.2 | ORPHA585 | 16 |
| AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) | 169500 | | ORPHA99027 | 1 |
| BANNAYAN-RILEY RUVALCABA | 153480 | Q87.8 | ORPHA109 | 1 |
| BARDET-BIEDL | 209900 | Q87.8 | ORPHA110 | 1 |
| BECKWITH-WIEDEMANN | 130650 | Q87.3 | ORPHA116 | 2 |
| BERARDINELLI-SEIP | 269700 | E88.1 | ORPHA528 | 3 |
| CAMPTOMELIC DWARFISM | 211970 | | | 2 |
| CAMURATI-ENGELMANN | 131300 | Q78.3 | ORPHA1328 | 1 |
| CANAVAN | 271900 | E70.8 - G31.8 | ORPHA141 | 6 |
| CARBAMOYLPHOSPHATE SYNTETASE DEF. | 237300 | E72.2 | ORPHA147 | 1 |
| CDG I | | | | 1 |
| CDG Ia | 212065 | E74.8 | ORPHA79318 | 6 |
| CDG Ig | 607143 | E74.8 | ORPHA79324 | 1 |
| CELIAC DISEASE | 212750 | K90.0 | ORPHA555 | 424 |
| CHARCOT-MARIE | 118200 | | ORPHA101082 | 4 |
| CHONDRODYSPLASIA PUNCTATA | 215100 | Q77.3 | ORPHA177 | 1 |
| CITRULLINEMIA CLASSIC | 215700 | E72.2 | ORPHA187 | 1 |
| CLEIDOCRANIAL DYSPLASIA | 119600 | Q74.0 | ORPHA1452 | 1 |
| COCKAYNE | 216400 | Q87.1 | ORPHA191 | 5 |
| COFFIN-LOWRY | 303600 | F78.8 | ORPHA192 | 1 |
| COFS | 214150 | Q87.8 | ORPHA1466 | 1 |
| COHEN SYNDROME | 216550 | Q87.8 | ORPHA193 | 1 |
| CONGENITAL UNDERGROWTH OF LEFT LEG | | | | 1 |
| COSTELLO | 218040 | Q87.8 | ORPHA3071 | 8 |
| COX DEF. | 220110 | G71.3 | ORPHA70474 | 5 |
| CPT DEF. | 255120 | E71.3 | ORPHA156 | 4 |
| CREATINE DEFICIENCY SYNDROME | 300352 | F79 .1 | ORPHA52503 | 3 |
| CRI DU CHAT | 123450 | Q93.4 | ORPHA281 | 1 |
| CRISPONI SYNDROME | 601378 | Q87.0 | ORPHA1545 | 1 |
| CYSTIC FIBROSIS | 219700 | E84 | ORPHA586 | 12 |
| CYSTINOSIS | 219800 | E72.0 | ORPHA213 | 20 |
| DAVIDSON DISEASE | 251850 | | ORPHA2290 | 1 |
| Del chr 7p | | | | 1 |
| Del 11 q | | | | 1 |
| Del 22 (q 11.2) | | | | 2 |
| Del 22 q | | | | 1 |
| DIASTROPHIC DYSPLASIA | 222600 | Q77.5 | ORPHA628 | 2 |
| DIBASICAMINOACIDURIA II | 222700 | E72.8 | ORPHA470 | 4 |
| DIGEORGE | 188400 | D82.1 | ORPHA567 | 1 |
| DOWN SYNDROME - TRISOMY 21 | 190685 | Q.90 | ORPHA870 | 4 |
| DYGGVE-MELCHIOR-CLAUSEN DISEASE | 223800 | Q87.1 | ORPHA239 | 1 |
| DYSTONIA MUSCULORUM DEFORMANS | 607616 | | | 2 |
| EHLERS-DANLOS | | | ORPHA98249 | 6 |
| EHLERS-DANLOS I | 130000 | Q79.6 | ORPHA287 | 2 |
| EHLERS-DANLOS IV | 130050 | Q79.6 | ORPHA286 | 1 |
| ELLIS-VAN CREVELD | 225500 | Q77.6 | ORPHA289 | 1 |
| ENCHONDROMATOSIS MULTIPLE | 166000 | | | 1 |
| EPILEPSY | | | | 1 |
| FABRY | 301500 | E75.2 | ORPHA324 | 7 |
| FACTOR XIII DEF. | 228500 | | | 1 |
| FAMILIAL DOLICHOCEPHALY | | | | 1 |
| FANCONI ANEMIA | 227650 | D61.0 | ORPHA84 | 66 |
| FANCONI-BICKEL SYNDROME | 227810 | E74.0 | ORPHA2088 | 4 |
| FARBER | 228000 | E75.2 | ORPHA333 | 1 |
| FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP) | 135100 | M61.1 | ORPHA337 | 4 |
| FIBROMATOSIS, JUVANILE HYALINE | 228600 | M72.9 | ORPHA2028 | 1 |
| FREEMAN-SHELDON | 193700 | Q87.0 | ORPHA2053 | 1 |
| FRONTOMETAPHYSEAL DYSPLASIA | 305620 | Q78.5 | ORPHA1826 | 1 |
| FRUCTOSE 1,6 DIPHOSPHATE DEFICIENCY | 229700 | E74.1 | ORPHA348 | 1 |
| FRUCTOSE INTOLERANCE | 229600 | E74.1 | ORPHA469 | 2 |
| FUCOSIDOSIS | 230000 | E77.1 | ORPHA349 | 25 |
| FUHRMANN SYNDROME | 228930 | | ORPHA2854 | 1 |
| GALACTOSEMIA (GALT -) | 230400 | E74.2 | ORPHA352 | 2 |
| GANGLIOSIDOSIS GM 1 TYPE 1 | 230500 | E75.1 | ORPHA354 | 78 |
| GANGLIOSIDOSIS GM 1 TYPE 2 | 230600 | E75.1 | ORPHA354 | 10 |
| GANGLIOSIDOSIS GM2 B1 VAR | 272800 | E75.0 | ORPHA845 | 21 |
| GAUCHER 1 | 230800 | | ORPHA77259 | 343 |
| GAUCHER 2 | 230900 | | ORPHA77260 | 86 |
| GAUCHER 3 | 231000 | | ORPHA77261 | 86 |
| GELEOPHISIC DWARFISM | 231050 | | ORPHA2623 | 1 |
| GERODERMA OSTEODYSPLASTICA | 231070 | | ORPHA2078 | 1 |
| GIANT AXONAL NEUROPATHY | 256850 | G.60 | ORPHA643 | 1 |
| GLUTARICACIDEMIA I | 231670 | E72.3 | ORPHA25 | 4 |
| GLYCERONEPHOSPHATE O-ACYLTRANSFERASE | 602744 | | | 1 |
| GLYCOGEN STOR. DIS. Ia | 232200 | | | 198 |
| GLYCOGEN STORAGE DISEASE II | 232300 | | | 207 |
| GLYCOGEN STORAGE DISEASE TYPE Ib | 232220 | | | 2 |
| GLYCOGEN STORAGE DISEASE TYPE III | 232400 | | | 12 |
| GLYCOGEN STORAGE DISEASE TYPE IV | 232500 | | | 1 |
| GLYCOGEN STORAGE DISEASE TYPE VIII | 306000 | | | 2 |
| GONADOTROPIN DEF. | 306190 | | | 1 |
| HAIR-AN SYNDROME | | | | 1 |
| HEMIHYPERTROPHY | 235000 | Q89.8 | ORPHA2128 | 1 |
| HEMOCHROMATOSIS NEONATAL | 231100 | | ORPHA446 | 1 |
| HOLT-ORAM | 142900 | Q87.2 | ORPHA392 | 1 |
| HOMOCYSTINURIA | 236200 | E72.1 | ORPHA394 | 7 |
| HYPERCHOLESTEROLEMIA FAMILIAL | 143890 | E78.0 | ORPHA406 | 1 |
| HYPERGLYCEROLEMIA | 307030 | E71.3 | ORPHA408 | 2 |
| HYPERGLYCINEMIA NONKETOTIC | 238300 | | | 3 |
| HYPERINSULINISM-HYPERAMMONEMIA SYNDROME | 138130 | | | 1 |
| HYPERLIPOPROTEINEMIA1 TYPE 1 | 238600 | E78.3 | ORPHA411 | 1 |
| HYPOMYELINATION AND CONGENITAL CATARACT | 610532 | G37.8 | ORPHA85163 | 20 |
| HYPOPHOSPHATASIA CHILDHOOD | 241510 | E83.3 | ORPHA436 | 1 |
| HYPOPHOSPHATASIA INFANTILE | 241500 | E83.3 | ORPHA436 | 1 |
| HYSTIOCYTOSIS X | 235900 | | | 1 |
| ICHTHYOSIS X-LINKED | 308100 | Q80.1 | ORPHA461 | 3 |
| INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DIS. | 243180 | | ORPHA2978 | 7 |
| ISOVALERICACIDEMIA | 243500 | E71.1 | ORPHA33 | 1 |
| KALLMANN | 147900 | | | 1 |
| KARTAGENER | 244400 | | | 1 |
| KLINEFELTER SYNDROME | | | ORPHA484 | 1 |
| KRABBE | 245200 | | | 98 |
| L1 CELL ADHESION MOLECULE - L1CAM | 308840 | | | 1 |
| LARSEN | 245600 | Q68.8 | ORPHA503 | 1 |
| LAURENCE-MOON | 245800 | Q87.8 | ORPHA2377 | 2 |
| LEPRECHAUNISM | 246200 | E16.1 - E34.3 | ORPHA508 | 1 |
| LESCH-NYHAN | 308000 | | | 5 |
| LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER | 603896 | | | 3 |
| LOWE | 309000 | E72.0 | ORPHA534 | 1 |
| MALONYL-CoA DECARBOXYLASE - MLYCD | 606761 | | | 3 |
| MANNOSIDOSIS | 248500 | E77.1 | ORPHA61 | 10 |
| MAPLE SYRUP URINE DISEASE | 248600 | | | 10 |
| MARFAN | 154700 | Q87.4 | ORPHA558 | 7 |
| MARINESCO-SJOGREN | 248800 | G11.9 | ORPHA559 | 1 |
| MCCUNE-ALBRIGHT SYNDROME | 174800 | Q78.1 | ORPHA562 | 1 |
| MELORHEOSTOSIS | 155950 | Q77.4 | ORPHA2485 | 1 |
| MENKES | 309400 | E83.0 | ORPHA565 | 12 |
| METACHROMATIC LEUCODYSTROPHY | 250100 | | | 177 |
| METACHROMATIC LEUCODYSTROPHY SAP B DEF | 249900 | E75.2 | ORPHA512 | 18 |
| METAPHYSEAL CHONDRODYSPLASIA MCKUSICK TYPE | 250250 | Q78.8 | ORPHA175 | 1 |
| METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE | 156500 | Q78.5 | ORPHA174 | 2 |
| METATROPIC DWARFISM | 156550 | Q77.8 | ORPHA485 | 2 |
| METHYLENETETRAHYDROFOLATE REDUCTASE DEF. | 236250 | E72.1 | ORPHA395 | 1 |
| METHYLMALONICOACIDEMIA | 251000 | | ORPHA79312 | 12 |
| MICHELIN TIRE BABY SYNDROME | 156610 | Q82.8 | ORPHA2505 | 1 |
| MITOCHONDRIAL COMPLEX I DEFICENCY | 252010 | | 2609 | 1 |
| MITOCHONDRIAL DNA DEPLETION SYNDROME | 251880 | Q99.8 | ORPHA35698 | 2 |
| MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I | | E88.8 | ORPHA2609 | 1 |
| MLC1 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SU | 605908 | | | 3 |
| MMA-HOMOCYSTINURIA | 236270 | E72.1 | ORPHA2169 | 7 |
| MOLYBDENUM COFACTOR DEF. | 252150 | E72.1 | ORPHA833 | 1 |
| MONOCARBOXYLATE TRASPORTER 8 DEFICIENCY | 300523 | | ORPHA59 | 2 |
| MUCOLIPIDOSIS II | 252500 | | | 102 |
| MUCOLIPIDOSIS III ALPHA/BETA | 252600 | | | 10 |
| MUCOLIPIDOSIS III GAMMA | 252605 | | | 13 |
| MUCOLIPIDOSIS IV | 252650 | E75.1 | ORPHA578 | 1 |
| MUCOPOLYSACCHARIDOSIS I | 252800 | | | 96 |
| MUCOPOLYSACCHARIDOSIS II | 309900 | | | 132 |
| MUCOPOLYSACCHARIDOSIS IIIA | 252900 | | | 43 |
| MUCOPOLYSACCHARIDOSIS IIIB | 252920 | | | 35 |
| MUCOPOLYSACCHARIDOSIS IIIC | 252930 | | | 26 |
| MUCOPOLYSACCHARIDOSIS IIID | 252940 | | | 6 |
| MUCOPOLYSACCHARIDOSIS IVA | 253000 | | | 29 |
| MUCOPOLYSACCHARIDOSIS IVB | 253010 | | | 2 |
| MUCOPOLYSACCHARIDOSIS VI | 253200 | | | 15 |
| MULTIPLE CARBOXYLASE DEF., LATE-ONSET | 253260 | E53.8 | ORPHA148 | 1 |
| MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL FORM | 253270 | E53.8 | ORPHA148 | 1 |
| MUSCLE-EYE-BRAIN DISEASE | 253280 | Q04.3 | ORPHA588 | 1 |
| MUSCULAR DYSTROPHY DEF. SARCOGLYCAN | 253700 | G71.0 | ORPHA353 | 1 |
| MUSCULAR DYSTROPHY DUCHENNE TYPE | 310200 | | ORPHA98896 | 1 |
| MUSCULAR FIBERS DISPROPORTION | | | | 1 |
| MYOCLONIC EPILEPSY,FAMILIAL INFANTILE;FIME | 605021 | | ORPHA86909 | 2 |
| MYOTONIC DYSTROPHY | 160900 | G71.1 | ORPHA273 | 1 |
| NARP SYNDROME | 551500 | G31.8 | ORPHA644 | 1 |
| NCL | | E75.4 | ORPHA216 | 1 |
| NCL 7 | 610951 | | ORPHA168491 | 1 |
| NCL INFANTILE - CLN1 | 256730 | | ORPHA79263 | 2 |
| NCL JUVENILE TYPE - CLN3 | 204200 | | ORPHA79264 | 1 |
| NCL LATE INFANTILE - CLN2 | 204500 | | ORPHA168491 | 7 |
| NCL LATE INFANTILE - CLN6 | 601780 | | ORPHA168491 | 1 |
| NEURAMINIDASE DEF. | 256550 | | | 14 |
| NEURAMINIDASE DEF. WITH BETA-GALACTOSIDASE DEF. | 256540 | E77.8 | ORPHA351 | 4 |
| NEUROAXONAL DYSTROPHY | 234200 | | ORPHA385 | 2 |
| NEUROAXONAL DYSTROPHY | 256600 | E75.5 - G31.8 | ORPHA35069 | 1 |
| NIEMANN-PICK A | 257200 | | | 76 |
| NIEMANN-PICK B | 607616 | | | 26 |
| NIEMANN-PICK C | 257220 | | | 40 |
| NORMAL CONTROL | | | | 208 |
| ORNITHINE-TRANSCARBAMYLASE DEF. | 311250 | E72.2 | ORPHA664 | 3 |
| OSTEOGENESIS IMPERFECTA | | Q78.0 | ORPHA666 | 26 |
| OSTEOGENESIS IMPERFECTA I | 166200 | Q78.0 | ORPHA666 | 4 |
| OSTEOGENESIS IMPERFECTA I - NEUROFIBR. | | | | 1 |
| OSTEOGENESIS IMPERFECTA IA | 166240 | Q78.0 | ORPHA666 | 19 |
| OSTEOGENESIS IMPERFECTA II | 166210 | Q78.0 | ORPHA666 | 10 |
| OSTEOGENESIS IMPERFECTA III | 259420 | Q78.0 | ORPHA666 | 11 |
| OSTEOGENESIS IMPERFECTA IV | 166220 | Q78.0 | ORPHA666 | 1 |
| OSTEOMYELITIS CHRONIC MULTIFOCAL | 259680 | M86.3 | ORPHA2778 | 1 |
| OSTEOPETROSIS | 259700 | Q78.2 | ORPHA667 | 1 |
| OSTEOPOROSIS JUVENILE | 259750 | M81.8 | ORPHA85193 | 1 |
| OSTEOPOROSIS PSEUDOGLIOMA | 259770 | | ORPHA2788 | 2 |
| PALLISTER-KILLIAN | 601803 | Q99.8 | ORPHA884 | 1 |
| PANTOTHENATE KINASE 2 | 606157 | | | 1 |
| PELIZAEUS-MERZBACHER | 312080 | G37.8 | ORPHA702 | 102 |
| PELIZAEUS-MERZBACHER-LIKE DISEASE | 608804 | G37.8 | ORPHA702 | 6 |
| PHENYLKETONURIA I | 261600 | E70.0 | ORPHA716 | 3 |
| PHENYLKETONURIA II | 261630 | E70.1 | ORPHA226 | 2 |
| PONTOCEREBELLAR HYPOPLASIA TYPE 1 | 607596 | | ORPHA2254 | 1 |
| PORPHIRIA, ACUTA INTERMITTET | 176000 | | ORPHA79276 | 1 |
| PRADER WILLI | 176270 | Q87.1 | ORPHA739 | 40 |
| PROPIONICACIDEMIA | 232000 | | | 8 |
| PYCNODYSOSTOSIS | 265800 | Q78.8 | ORPHA763 | 60 |
| PYRUVATE DEHYDROGENASE COMPLEX | 312170 | E74.4 | ORPHA765 | 1 |
| PYRUVATE DEHYDROGENASE DEF. | 245349 | E74.4 | ORPHA765 | 3 |
| RENAL COLOBOMA SYNDROME | 120330 | Q14.2 - Q60.4 | ORPHA1475 | 1 |
| RIEGER SYNDROME TYPE 1 | 180500 | Q13.8 | ORPHA782 | 1 |
| ROBERTS | 268300 | Q73.8 | ORPHA3103 | 3 |
| SALLA DISEASE | 604369 | | ORPHA834 | 8 |
| SANDHOFF | 268800 | E75.0 | ORPHA796 | 22 |
| SCID | 202500 | | | 2 |
| SECKEL SYNDROME | | | ORPHA808 | 1 |
| SED,MAROTEAUX TYPE (PSEUDO-MORQUIO SYNDROME TYPE 2 | 184095 | | ORPHA93302 | 1 |
| SHWACHMAN-BODIAN | 260400 | D61.0 | ORPHA811 | 1 |
| SIALIC ACID STORAGE | 269920 | | ORPHA834 | 2 |
| SIDS | 272120 | | | 1 |
| SJOGREN-LARSSON | 270200 | E71.3 | ORPHA816 | 3 |
| SMA I | 253300 | G12 | ORPHA70 | 12 |
| SMA III | 253400 | G12.1 | ORPHA83419 | 1 |
| SPASTIC PARAPLEGIA 2 - SPG2 | 312920 | | ORPHA99015 | 6 |
| SPONASTRIME DYSPLASIA | 271510 | | ORPHA93357 | 1 |
| SPONDYLOCARPOTARSAL SYNDROME - SCT | 272460 | | ORPHA3275 | 1 |
| SPONDYLOCOSTAL DYSOSTOSIS | 277300 | Q76.8 | ORPHA2311 | 2 |
| SPONDYLOEPIPHYSEAL DYSPLASIA | 183900 | | ORPHA94068 | 3 |
| STARTLE SYNDROME - HYPEREKPLEXIA | 149400 | G25.8 | ORPHA3197 | 2 |
| STUVE-WIEDEMANN SYNDROME | 601559 | | ORPHA3206 | 3 |
| SURF1 | 185620 | | | 3 |
| TAY-SACHS | 272800 | E75.0 | ORPHA845 | 56 |
| TESTICULAR FEMINIZATION | 313700 | | | 1 |
| TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS | 242170 | | | 2 |
| TRIFUNCTIONAL PROTEIN DEFICIENCY | 609015 | | ORPHA746 | 3 |
| TRIGLYCERIDE STORAGE | 275630 | | ORPHA98907 | 4 |
| TRISOMY 18 | | | | 1 |
| TURNER | | Q96 | ORPHA881 | 4 |
| TURNER MOSAIC | | | | 1 |
| TYROSINEMIA TYPE I | 276700 | E70.2 | ORPHA882 | 2 |
| TYROSINEMIA TYPE II | 276600 | E70.2 | ORPHA28378 | 6 |
| VELOCARDIO FACIAL SYNDROME | 192430 | D82.1 | ORPHA567 | 10 |
| WALKER-WARBURG | 236670 | Q04.3 | ORPHA899 | 1 |
| WILSON | 277900 | E83.0 | ORPHA905 | 6 |
| WISKOTT-ALDRICH | 301000 | D82.0 | ORPHA906 | 3 |
| WOLMAN DISEASE | 278000 | E75.5 | ORPHA75233 | 10 |
| X DUPLICATION | | | | 1 |
| XERODERMA PIGMENTOSUM I | 278700 | Q82.1 | ORPHA910 | 3 |
| XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE | 278800 | Q82.1 | ORPHA1569 | 2 |
| ZELLWEGER | 214100 | Q87.8 | ORPHA912 | 3 |
