Diagnosis list

DiagnosisMIM number
CHROMOSOME 14 DELETION 
16p11.2 MICRODUPLICATION 
AARSKOG S.100050
ACHONDROPLASIA100800
ADAMS-OLIVER SYNDROME; AOS100300
ALAGILLE SYNDROME 1118450
ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A #203100
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME301040
ALZHEIMER DISEASE104300
AMYOTROPHIC LATERAL SCLEROSIS105400
ANENCEPHALY206500
ANGELMAN SYNDROME105830
APERT SYNDROME101200
AUTISM 
BANNAYAN-RILEY-RUVALCABA SYNDROME153480
BECKWITH-WIEDEMANN SYNDROME130650
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY607876
BETA-THALASSEMIA#613985
BETA-THALASSEMIA INTERMEDIA #613985
BOR SYNDROME113650
BRANCHIOOCULOFACIAL SYNDROME113620
CAMPOMELIC DYSPLASIA114290
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10; CMH10#608758
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11#612098
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1#192600
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2#115195
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3#115196
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4#115197
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6; CMH6#600858
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7#613690
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8#608751
CEREBRAL CAVERNOUS MALFORMATIONS116860
CHARCOT-MARIE-TOOTH NEUROPATHY 
CHARGE SYNDROME214800
CHOROIDEREMIA#303100
CHROMOSOMAL REARRANGEMENT 
CHROMOSOME 15q13.3 DELETION SYNDROME #612001
CHROMOSOME 2q37 DELETION SYNDROME#600430
CHROMOSOME DELETION 
CHROMOSOME DICENTRIC 
CHROMOSOME DOUBLE TRISOMY 
CHROMOSOME DUPLICATION 
CHROMOSOME INVERSION 
CHROMOSOME MARKER 
CHROMOSOME MARKER (mosaicism) 
CHROMOSOME RECIPROCAL TRANSLOCATION 
CHROMOSOME RING 
CHROMOSOME RING 14 - RELATIVE 
CHROMOSOME RING 5 
CHROMOSOME ROBERTSONIAN TRANSLOCATION 
CHROMOSOME X STRUCTURAL ANOMALY 
CITRULLINEMIA215700
COFFIN-LOWRY SYNDROME303600
COLLAGEN, TYPE II, ALPHA-1; COL2A1120140
COLLODION BABY, SELF-HEALING; SHCB#242300
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESS608456
COLORECTAL CANCER HEREDITARY NONPOLYPOSIS (TYPE 1120435
CONVULSIONS BENIGN FAMILIAL INFANTILE605751
CORNELIA DE LANGE SYNDROME 
CRI-DU-CHAT SYNDROME123450
CRI-DU-CHAT SYNDROME RELATIVE123450
CROUZON S.123500
CYLINDROMATOSIS132700
CYSTIC FIBROSIS219700
DANON DISEASE300257
DEAFNESS 
DESBUQUOIS SYNDROME#251450
DIGEORGE SYNDROME; DGS 188400
DISTAL 7q11.23 MICRODELETION SYNDROME613729
DISTAL MONOSOMY 9p 
DOWN SYNDROME190685
DOWN SYNDROME mosaicism190685
DRAVET SYNDROME #607208
DUPLICATION/INVERSION 15q11 
DUPLICATION/INVERSION 15q11 - RELATIVE 
DYSKERATOSIS CONGENITA, X-LINKED; DKC305000
DYSTROPHIA MYOTONICA 1160900
EPIDERMOLYSIS BULLOSA 
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE131900
EPILEPSY 
EPILEPSY BENIGN NEONATAL#121200
EPILEPSY JUVENILE MYOCLONIC254770
EPILEPSY PROGRESSIVE MYOCLONIC (ND) 
EPILEPSY, IDIOPATHIC GENERALIZED; EIG600669
EPILEPTIC ENCEPHALOPATHY308350
EXOSTOSES, MULTIPLE, TYPE I133700
FABRY DISEASE#301500
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 (ATYPICAL GE300624
FRAGILE X MENTAL RETARDATION SYNDROME (INTERMEDIAT300624
FRAGILE X MENTAL RETARDATION SYNDROME (MOSAICISM)300624
FRAGILE X MENTAL RETARDATION SYNDROME (PREMUTATION300624
FRAGILE X TREMOR/ATAXIA SYNDROME300623
FREEMAN-SHELDON SYNDROME193700
GASTROINTESTINAL STROMAL TUMOR 
GOLDENHAR SYNDROME164210
GOLLOP-WOLFGAN COMPLEX228250
GORLIN SYNDROME109400
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME175700
HEMOGLOBIN VARIANTS 
HERED.NEUROPATHY WITH LIABILITY TO PRESSURE PALSIE#162500
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN141749
HERMAPHRODITISM 
HYPERCHOLESTEROLEMIA FAMILIAL 
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE 145701
HYPERTROPHIC CARDIOMYOPATHY 
HYPOCHONDROPLASIA146000
HYPOGONADOTROPIC HYPOGONADISM146110
HYPOMELANOSIS OF ITO300337
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DI167320
INCLUSION BODY MYOSITIS147421
INCONTINENTIA PIGMENTI308300
INTELLECTUAL DISABILITY 
IPEX304790
ISOCHROMOSOMES 
JACKSON-WEISS S.#123150
JOUBERT SYNDROME#213300
JUVENILE POLYPOSIS SYNDROME174900
KABUKI SYNDROME 1; KABUK1#147920
KARTAGENER SYNDROME#244400
KLINEFELTER SYNDROME 
KLIPPEL TRENAUNAY WEBWER SYNDROME149000
LEUKEMIA, CHRONIC LYMPHOCYTIC; CLL151400
LOWRY-WOOD S.226960
LYNCH SYNDROME I#120435
MARFAN SYNDROME154700
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 14 
MELANOMA 
MELANOMA, UVEAL155720
MELANOMA-PANCREATIC CANCER SYNDROME#606719
METAPHYSEAL CHONDRODYSPLASIA SCHMID TYPE156500
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH#604317
MILD COGNITIVE IMPAIRMENT - MCI104300
MORRIS SYNDROME 
MOWAT-WILSON SYNDROME235730
MUENKE SYNDROME; MNKES #602849
MUSCULAR DYSTROPHY BECKER 300376
MUSCULAR DYSTROPHY DUCHENNE310200
MYELOMA MULTIPLE254500
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG254800
NANCE-HORAN SYNDROME; NHS302350
NEURAL TUBE DEFECTS182940
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; #614298
NEUROFIBROMATOSIS (TYPE I)162200
NEUROFIBROMATOSIS (TYPE II)101000
NOONAN SYNDROME 1163950
NOONAN SYNDROME 4; NS4#610733
NORMAL CONTROL 
NORMAL CONTROL (AD and HCM) 
OSTEOGENESIS IMPERFECTA 
OSTEOGENESIS IMPERFECTA (TYPE I)166200
OSTEOGENESIS IMPERFECTA, TYPE II#166210
PALLISTER-KILLIAN SYNDROME601803
PANCREATIC CARCINOMA260350
PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 1 
PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 15 
PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 
PARTIAL DELETION OF THE LONG ARM OF CHROMOSOME 6 
PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 18 
PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 2  
PARTIAL DUPLICATION/TRIPLICATION OF CHROMOSOME 12p 
PARTIAL MONOSOMY OF CHROMOSOME 14q 
PARTIAL MONOSOMY OF CHROMOSOME 18q 
PARTIAL TRISOMY OF CHROMOSOME 14q 
PENDRED SYNDROME274600
PFEIFFER S.101600
PHENYLKETONURIA261600
POLYCYSTIC KIDNEYS173900
PRADER-WILLI SYNDROME; PWS176270
PRESENILIN 1; PSEN1 *104311
PSEUDOACHONDROPLASIA177170
PSEUDOXANTHOMA ELASTICUM264800
PTEN HAMARTOMA TUMOR SYNDROME, INCLUDED; PHTS, INC +601728
RETINOBLASTOMA180200
RETT SYNDROME312750
RING CHROMOSOME 14 SYNDROME#616606
ROBERTS SYNDROME; RBS#268300
ROKITANSKY-KUSTER-HAUSER SYNDROME277000
RUBINSTEIN-TAYBI SYNDROME180849
SAETHRE-CHOTZEN S.101400
SEVERE COMBINED IMMUNODEFICIENCY (SCID) 
SEX CHROMOSOME ANEUPLOIDY 
SICKLE CELL ANEMIA#603903
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME300263
SILVER-RUSSEL SYNDROME DUE TO MATERNAL UNIPARENTAL 
SKELETAL DYSPLASIA 
SMITH-MAGENIS SYNDROME182290
SOTOS SYNDROME117550
SOTOS SYNDROME117550
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED300106
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIV208230
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY271980
TETRAPLOIDY 
THANATOPHORIC DYSPLASIA (TYPE II)#187601
THANATOPHORIC DYSPLASIA (TYPE I)187600
TREACHER COLLINS SYNDROME154500
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 8 
TRISOMY 9 
TUBEROUS SCLEROSIS; TS191100
TURNER SYNDROME 
TURNER SYNDROME (mosaicism) 
USHER SYNDROME 
USHER SYNDROME TYPE 2 276901
USHER SYNDROME, TYPE I276900
VON HIPPEL-LINDAU SYNDROME193300
WAARDENBURG SYNDROME 
WAGR SYNDROME194072
WEAVER SYNDROME277590
WILLIAMS-BEUREN SYNDROME194050
WILSON DISEASE277900
WISKOTT-ALDRICH SYNDROME301000
WOLF-HIRSCHHORN SYNDROME194190
X-Linked Ichthyosis#308100
YOUNG-SIMPSON SYNDROME603736