Diagnosis list

DiagnosisMIM number
21-Hydroxilase deficit 
AARSKOG S.100050
ACHONDROGENESIS 
ACHONDROPLASIA100800
ADAMS-OLIVER SYNDROME; AOS100300
ALAGILLE SYNDROME 1118450
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME301040
ALZHEIMER DISEASE104300
ANENCEPHALY206500
ANGELMAN SYNDROME105830
ANONYCHIA CONGENITA 
APERT SYNDROME101200
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY602086
ATAXIA-TELANGIECTASIA208900
AUTISM 
BANNAYAN-RILEY-RUVALCABA SYNDROME153480
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY607876
BETA-THALASSEMIA INTERMEDIA141900
BETA-THALASSEMIAS141900
BOR SYNDROME113650
BRANCHIOOCULOFACIAL SYNDROME113620
CAMPOMELIC DYSPLASIA114290
CAT EYE SYNDROME115470
CEREBRAL CAVERNOUS MALFORMATIONS116860
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1118220
CHARCOT-MARIE-TOOTH NEUROPATHY 
CHARGE SYNDROME214800
CHROMOSOME DELETION 
CHROMOSOME DICENTRIC 
CHROMOSOME DOUBLE TRISOMY 
CHROMOSOME DUPLICATION 
CHROMOSOME INVERSION 
CHROMOSOME MARKER 
CHROMOSOME RECIPROCAL TRANSLOCATION 
CHROMOSOME RING 
CHROMOSOME ROBERTSONIAN TRANSLOCATION 
CITRULLINEMIA215700
COCKAYNE SYNDROME 
COFFIN-LOWRY SYNDROME303600
COLLAGEN, TYPE II, ALPHA-1; COL2A1120140
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS (TYPE 1120435
CONVULSIONS BENIGN FAMILIAL INFANTILE605751
CORNELIA DE LANGE SYNDROME 
CRI-DU-CHAT SYNDROME123450
CROUZON S.123500
CUSHING SYNDROME 
CYLINDROMATOSIS132700
CYSTIC FIBROSIS219700
DARIER DISEASE 
DEAFNESS 
DIGEORGE SYNDROME188400
DOWN SYNDROME190685
DYSKERATOSIS CONGENITA, X-LINKED; DKC305000
DYSTROPHIA MYOTONICA 1160900
EPIDERMOLYSIS BULLOSA 
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE131900
EPILEPSY BENIGN NEONATAL602235
EPILEPSY JUVENILE MYOCLONIC606904
EPILEPSY PROGRESSIVE MYOCLONIC (ND) 
EPILEPSY, IDIOPATHIC GENERALIZED; EIG600669
FAMILIAL ADENOMATOUS POLYPOSIS175100
FANCONI ANEMIA227650
FEBRILE CONVULSIONS FAMILIAL 
FRAGILE SITE, FOLIC ACID TYPE, RARE, FRA(X)(q28); 309548
FRAGILE X MENTAL RETARDATION SYNDROME300624
FRAGILE X MENTAL RETARDATION SYNDROME (PREMUTATION 
FRAGILE X TREMOR/ATAXIA SYNDROME300623
FREEMAN-SHELDON SYNDROME193700
GOLDENHAR SYNDROME164210
GOLLOP-WOLFGAN COMPLEX228250
GORLIN SYNDROME109400
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME175700
HAILEY-HAILEY DISEASE169600
HEMOPHILIA 
HERMAPHRODITISM 
HYPERCHOLESTEROLEMIA FAMILIAL 
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE 145701
HYPERTROPHIC CARDIOMYOPATHY 
HYPOCHONDROPLASIA146000
HYPOGONADISM CENTRAL 
HYPOGONADOTROPIC HYPOGONADISM 
HYPOMELANOSIS OF ITO300337
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DI167320
INCLUSION BODY MYOSITIS147421
INCONTINENTIA PIGMENTI308300
IPEX304790
ISOCHROMOSOMES 
JACKSON-WEISS S.#123150
JOUBERT SYNDROME 
JUVENILE POLYPOSIS SYNDROME174900
KLINEFELTER SYNDROME 
KLIPPEL TRENAUNAY WEBWER SYNDROME149000
LARSEN SYNDROME 
LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL151400
LOWRY-WOOD S. 
MARFAN SYNDROME154700
MECKEL SYNDROME 
MELANOMA 
MENTAL RETARDATION 
METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE156500
MILD COGNITIVE IMPAIRMENT - MCI104300
MILLER-DIEKER LISSENCEPHALY SYNDROME247200
MORRIS SYNDROME 
MUSCULAR DYSTROPHY BECKER 300376
MUSCULAR DYSTROPHY DUCHENNE310200
MYELOMA MULTIPLE254500
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG254800
NANCE-HORAN SYNDROME; NHS302350
NETHERTON SYNDROME256500
NEURAL TUBE DEFECTS 
NEUROFIBROMATOSIS (TYPE I)162200
NEUROFIBROMATOSIS (TYPE II)101000
NEUROMUSCULAR DISEASE 
NOONAN SYNDROME 1163950
NORMAL CONTROL 
OSTEOGENESIS IMPERFECTA 
OSTEOGENESIS IMPERFECTA (TYPE I)166200
PALLISTER-KILLIAN SYNDROME601803
PANCREATIC CARCINOMA 
PENDRED SYNDROME274600
PFEIFFER S.101600
PHENYLKETONURIA261600
PHOSPHATASE AND TENSIN HOMOLOG601728
POIKILODERMA WITH NEUTROPENIA; PN%604173
POLYCYSTIC KIDNEYS173900
PRADER-WILLI SYNDROME; PWS176270
PREMATURE OVARIAN FAILURE  
PROSTATIC CARCINOMA 
PRUNE BELLY SYNDROME264140
PSEUDOACHONDROPLASIA177170
PSEUDOXANTHOMA ELASTICUM264800
RETINOBLASTOMA180200
RETT SYNDROME312750
Roberts syndrome 
ROKITANSKY-KUSTER-HAUSER SYNDROME277000
RUBINSTEIN-TAYBI SYNDROME180849
SAETHRE-CHOTZEN S.101400
SELF-HEALING COLLODION BABY, INCLUDED 
SEMINOMA 
SETLEIS SYNDROME227260
SEVERE COMBINED IMMUNODEFICIENCY (SCID) 
SEVERE MYOCLONIC EPILEPSY OF INFANCY607208
SEX CHROMOSOME ANEUPLOIDY 
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME300263
SMITH-MAGENIS SYNDROME182290
SOTOS SYNDROME117550
SOTOS SYNDROME117550
SPHEROCYTOSIS 
SPINAL MUSCULAR ATROPHY 
SPINOCEREBELLAR ATAXIA 
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY271980
SUDDEN INFANT DEATH SYNDROME272120
SWYER SYNDROME 
TETRAPLOIDY 
THANATOPHORIC DYSPLASIA (TYPE II)#187601
THANATOPHORIC DYSPLASIA (TYPE I)187600
TOWNES-BROCKS SYNDROME; TBS107480
TRIPLOIDY 
TRISOMY 10 
TRISOMY 11 
TRISOMY 12 
TRISOMY 13 
TRISOMY 14 
TRISOMY 15 
TRISOMY 16 
TRISOMY 17 
TRISOMY 18 
TRISOMY 20 
TRISOMY 20 mosaicism 
TRISOMY 22 
TRISOMY 3 
TRISOMY 4 
TRISOMY 5 
TRISOMY 6 
TRISOMY 7 
TRISOMY 9 
TUBEROUS SCLEROSIS; TS191100
TURNER SYNDROME 
USHER SYNDROME 
USHER SYNDROME, TYPE I276900
WAARDENBURG SYNDROME 
WAGR SYNDROME194072
WEAVER SYNDROME277590
WILLIAMS-BEUREN SYNDROME194050
WILSON DISEASE277900
WISKOTT-ALDRICH SYNDROME301000
WOLF-HIRSCHHORN SYNDROME194190
YOUNG-SIMPSON SYNDROME603736