| Diagnosis | MIM number | | 21-Hydroxilase deficit | |
| AARSKOG S. | 100050 |
| ACHONDROGENESIS | |
| ACHONDROPLASIA | 100800 |
| ADAMS-OLIVER SYNDROME; AOS | 100300 |
| ALAGILLE SYNDROME 1 | 118450 |
| ALBINISM, OCULOCUTANEOUS | |
| alpha globin variant | |
| ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME | 301040 |
| ALZHEIMER DISEASE | 104300 |
| ANENCEPHALY | 206500 |
| ANGELMAN SYNDROME | 105830 |
| ANONYCHIA CONGENITA | |
| APERT SYNDROME | 101200 |
| ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY | 602086 |
| Arthrogryposis distal | |
| Arthrogryposis, distal, type 2B | 601680 |
| ATAXIA-TELANGIECTASIA | 208900 |
| AUTISM | |
| Axenfeld-Rieger syndrome | |
| BANNAYAN-RILEY-RUVALCABA SYNDROME | 153480 |
| BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY | 607876 |
| BETA-THALASSEMIA INTERMEDIA | 141900 |
| BETA-THALASSEMIAS | 141900 |
| BOR SYNDROME | 113650 |
| BRANCHIOOCULOFACIAL SYNDROME | 113620 |
| BREAST CANCER | |
| CAMPOMELIC DYSPLASIA | 114290 |
| CAT EYE SYNDROME | 115470 |
| CEREBRAL CAVERNOUS MALFORMATIONS | 116860 |
| CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1 | 118220 |
| CHARCOT-MARIE-TOOTH NEUROPATHY | |
| CHARGE SYNDROME | 214800 |
| CHROMOSOMAL REARRANGEMENT | |
| CHROMOSOME DELETION | |
| CHROMOSOME DICENTRIC | |
| CHROMOSOME DOUBLE TRISOMY | |
| CHROMOSOME DUPLICATION | |
| CHROMOSOME INVERSION | |
| CHROMOSOME MARKER | |
| CHROMOSOME MARKER (mosaicism) | |
| CHROMOSOME RECIPROCAL TRANSLOCATION | |
| CHROMOSOME RING | |
| CHROMOSOME RING 14 | |
| CHROMOSOME RING 14 - RELATIVE | |
| CHROMOSOME ROBERTSONIAN TRANSLOCATION | |
| CITRULLINEMIA | 215700 |
| COCKAYNE SYNDROME | |
| COFFIN-LOWRY SYNDROME | 303600 |
| COLLAGEN, TYPE II, ALPHA-1; COL2A1 | 120140 |
| COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESS | 608456 |
| COLORECTAL CANCER HEREDITARY NONPOLYPOSIS (TYPE 1 | 120435 |
| CONVULSIONS BENIGN FAMILIAL INFANTILE | 605751 |
| CORNELIA DE LANGE SYNDROME | |
| Cowden syndrome | |
| CRI-DU-CHAT SYNDROME | 123450 |
| CROUZON S. | 123500 |
| CURRARINO SYNDROME | |
| CUSHING SYNDROME | |
| CYLINDROMATOSIS | 132700 |
| CYSTIC FIBROSIS | 219700 |
| DARIER DISEASE | |
| DEAFNESS | |
| DIGEORGE SYNDROME | 188400 |
| DOWN SYNDROME | 190685 |
| DYSKERATOSIS CONGENITA, X-LINKED; DKC | 305000 |
| DYSTROPHIA MYOTONICA 1 | 160900 |
| echographic malformation | |
| Edwards syndrome | ORPHA3380 |
| EPIDERMOLYSIS BULLOSA | |
| EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE | 131900 |
| EPILEPSY BENIGN NEONATAL | 602235 |
| EPILEPSY JUVENILE MYOCLONIC | 606904 |
| EPILEPSY PROGRESSIVE MYOCLONIC (ND) | |
| EPILEPSY, IDIOPATHIC GENERALIZED; EIG | 600669 |
| EXOSTOSES, MULTIPLE, TYPE I | 133700 |
| FAMILIAL ADENOMATOUS POLYPOSIS | 175100 |
| FANCONI ANEMIA | 227650 |
| FEBRILE CONVULSIONS FAMILIAL | |
| FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); | 309548 |
| FRAGILE X MENTAL RETARDATION SYNDROME | 300624 |
| FRAGILE X MENTAL RETARDATION SYNDROME (MOSAICISM) | |
| FRAGILE X MENTAL RETARDATION SYNDROME (PREMUTATION | |
| FRAGILE X TREMOR/ATAXIA SYNDROME | 300623 |
| FREEMAN-SHELDON SYNDROME | 193700 |
| FRONTOTEMPORAL DEMENTIA FTD (IBMPFD) | |
| GOLDENHAR SYNDROME | 164210 |
| GOLLOP-WOLFGAN COMPLEX | 228250 |
| GORLIN SYNDROME | 109400 |
| GREIG CEPHALOPOLYSYNDACTYLY SYNDROME | 175700 |
| HAILEY-HAILEY DISEASE | 169600 |
| HEMOPHILIA | |
| HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | 141749 |
| HERMAPHRODITISM | |
| HYPERCHOLESTEROLEMIA FAMILIAL | |
| HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE | 145701 |
| HYPERTROPHIC CARDIOMYOPATHY | |
| HYPOCHONDROPLASIA | 146000 |
| HYPOGONADISM CENTRAL | |
| HYPOGONADOTROPIC HYPOGONADISM | 146110 |
| HYPOMELANOSIS OF ITO | 300337 |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DI | 167320 |
| INCLUSION BODY MYOSITIS | 147421 |
| INCONTINENTIA PIGMENTI | 308300 |
| IPEX | 304790 |
| ISOCHROMOSOMES | |
| Isolated aniridia | |
| JACKSON-WEISS S. | #123150 |
| JOUBERT SYNDROME | |
| JUVENILE POLYPOSIS SYNDROME | 174900 |
| kabuki syndrome | |
| KERATODERMA, PALMOPLANTAR, WITH DEAFNESS | 148350 |
| Kidney cancer | |
| KLINEFELTER SYNDROME | |
| KLIPPEL TRENAUNAY WEBWER SYNDROME | 149000 |
| LARSEN SYNDROME | |
| LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL | 151400 |
| LOWRY-WOOD S. | |
| Mandibuloacral dysplasia | ORPHA2457 |
| MARFAN SYNDROME | 154700 |
| MECKEL SYNDROME | |
| MEDULLOBLASTOMA; MDB | 155255 |
| MELANOMA | |
| MELANOMA, UVEAL | 155720 |
| MENTAL RETARDATION | |
| METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE | 156500 |
| MILD COGNITIVE IMPAIRMENT - MCI | 104300 |
| MILLER-DIEKER LISSENCEPHALY SYNDROME | 247200 |
| MORRIS SYNDROME | |
| MUSCULAR DYSTROPHY BECKER | 300376 |
| MUSCULAR DYSTROPHY DUCHENNE | 310200 |
| MYELOMA MULTIPLE | 254500 |
| MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG | 254800 |
| NANCE-HORAN SYNDROME; NHS | 302350 |
| NETHERTON SYNDROME | 256500 |
| NEURAL TUBE DEFECTS | |
| NEUROFIBROMATOSIS (TYPE I) | 162200 |
| NEUROFIBROMATOSIS (TYPE II) | 101000 |
| NEUROMUSCULAR DISEASE | |
| NOONAN SYNDROME 1 | 163950 |
| NORMAL CONTROL | |
| NORMAL CONTROL (AD and HCM) | |
| OSTEOGENESIS IMPERFECTA | |
| OSTEOGENESIS IMPERFECTA (TYPE I) | 166200 |
| PALLISTER-KILLIAN SYNDROME | 601803 |
| PANCREATIC CARCINOMA | |
| PARAGANGLIOMA | |
| PENDRED SYNDROME | 274600 |
| PFEIFFER S. | 101600 |
| PHENYLKETONURIA | 261600 |
| PHOSPHATASE AND TENSIN HOMOLOG | 601728 |
| POLYCYSTIC KIDNEYS | 173900 |
| PRADER-WILLI SYNDROME; PWS | 176270 |
| PREMATURE OVARIAN FAILURE | |
| PROSTATIC CARCINOMA | |
| PRUNE BELLY SYNDROME | 264140 |
| PSEUDOACHONDROPLASIA | 177170 |
| PSEUDOXANTHOMA ELASTICUM | 264800 |
| psychomotor retardation | |
| Recurrent triploidy | |
| restrictive cardiomyopathy | |
| RETINOBLASTOMA | 180200 |
| RETT SYNDROME | 312750 |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA | 215100 |
| Roberts syndrome | |
| ROKITANSKY-KUSTER-HAUSER SYNDROME | 277000 |
| RUBINSTEIN-TAYBI SYNDROME | 180849 |
| SAETHRE-CHOTZEN S. | 101400 |
| Seckel syndrome | |
| SEGMENTAL HYPERPLASIA | |
| SELF-HEALING COLLODION BABY, INCLUDED | |
| SEMINOMA | |
| SETLEIS SYNDROME | 227260 |
| SEVERE COMBINED IMMUNODEFICIENCY (SCID) | |
| SEVERE MYOCLONIC EPILEPSY OF INFANCY | 607208 |
| SEX CHROMOSOME ANEUPLOIDY | |
| short stature | |
| SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME | 300263 |
| SKELETAL DYSPLASIA | |
| SMITH-MAGENIS SYNDROME | 182290 |
| SOTOS SYNDROME | 117550 |
| SOTOS SYNDROME | 117550 |
| SPHEROCYTOSIS | |
| SPINAL MUSCULAR ATROPHY | |
| SPINOCEREBELLAR ATAXIA | |
| SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIV | 208230 |
| SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY | 271980 |
| SUDDEN INFANT DEATH SYNDROME | 272120 |
| SWYER SYNDROME | |
| TETRAPLOIDY | |
| THANATOPHORIC DYSPLASIA (TYPE II) | #187601 |
| THANATOPHORIC DYSPLASIA (TYPE I) | 187600 |
| THPTTS | 188770 |
| TOWNES-BROCKS SYNDROME; TBS | 107480 |
| TREACHER COLLINS SYNDROME | 154500 |
| TRIPLOIDY | |
| TRISOMY 10 | |
| TRISOMY 11 | |
| TRISOMY 12 | |
| TRISOMY 13 | |
| TRISOMY 14 | |
| TRISOMY 15 | |
| TRISOMY 16 | |
| TRISOMY 17 | |
| TRISOMY 18 | |
| TRISOMY 20 | |
| TRISOMY 22 | |
| TRISOMY 3 | |
| TRISOMY 4 | |
| TRISOMY 5 | |
| TRISOMY 6 | |
| TRISOMY 7 | |
| TRISOMY 9 | |
| TUBEROUS SCLEROSIS; TS | 191100 |
| TURNER SYNDROME | |
| USHER SYNDROME | |
| USHER SYNDROME, TYPE I | 276900 |
| VON HIPPEL-LINDAU SYNDROME | 193300 |
| WAARDENBURG SYNDROME | |
| WAGR SYNDROME | 194072 |
| WEAVER SYNDROME | 277590 |
| WILLIAMS-BEUREN SYNDROME | 194050 |
| WILSON DISEASE | 277900 |
| WISKOTT-ALDRICH SYNDROME | 301000 |
| WOLF-HIRSCHHORN SYNDROME | 194190 |
| X-Linked Ichthyosis | #308100 |
| YOUNG-SIMPSON SYNDROME | 603736 |
