value | count | graph |
---|
TRANSLOCATED CHROMOSOME | 211 | ************************************************************ |
CHROMOSOME DELETION | 146 | ****************************************** |
18Q- SYNDROME | 45 | ************* |
CRI-DU-CHAT SYNDROME | 40 | *********** |
DERIVATIVE CHROMOSOME | 34 | ********** |
DUPLICATED CHROMOSOME | 29 | ******** |
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD | 25 | ******* |
TURNER SYNDROME | 22 | ****** |
RING CHROMOSOME | 20 | ****** |
ANEUPLOID CHROMOSOME NUMBER - TRISOMY | 19 | ***** |
WILLIAMS-BEUREN SYNDROME; WBS | 16 | ***** |
HOLOPROSENCEPHALY | 16 | ***** |
DICENTRIC CHROMOSOME | 15 | **** |
POTOCKI-SHAFFER SYNDROME | 15 | **** |
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC | 13 | **** |
PRADER-WILLI SYNDROME; PWS | 12 | *** |
SMITH-MAGENIS SYNDROME; SMS | 12 | *** |
AZOOSPERMIA FACTOR C | 10 | *** |
18P- SYNDROME | 8 | ** |
RETINOBLASTOMA, SPORADIC | 8 | ** |
WILMS TUMOR 1; WT1 | 8 | ** |
CHROMOSOME 1P36 DELETION SYNDROME | 7 | ** |
ISODICENTRIC CHROMOSOME | 6 | ** |
INVERTED DUPLICATION DELETION | 6 | ** |
RECOMBINANT CHROMOSOME | 6 | ** |
CHROMOSOME INSERTION | 5 | * |
TRISOMY 21 | 5 | * |
DIGEORGE SYNDROME; DGS | 5 | * |
ANGELMAN SYNDROME; AS | 5 | * |
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS | 5 | * |
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2 | 4 | * |
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18 | 4 | * |
XX MALE SYNDROME | 4 | * |
INVERTED CHROMOSOME | 4 | * |
ICHTHYOSIS, X-LINKED | 4 | * |
BASAL CELL NEVUS SYNDROME; BCNS | 4 | * |
WOLF-HIRSCHHORN SYNDROME; WHS | 3 | * |
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS | 3 | * |
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 8 | 3 | * |
XXY SYNDROME; KLINEFELTER SYNDROME | 3 | * |
CUTIS LAXA | 3 | * |
TETRALOGY OF FALLOT | 3 | * |
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS) | 3 | * |
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9 | 3 | * |
MUSCULAR DYSTROPHY, BECKER TYPE; BMD | 3 | * |
DELETED IN AZOOSPERMIA; DAZ | 3 | * |
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED | 2 | * |
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 13 | 2 | * |
POTOCKI-LUPSKI SYNDROME; PTLS | 2 | * |
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | 2 | * |
FUMARATE HYDRATASE; FH | 2 | * |
ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED | 2 | * |
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME) | 2 | * |
BECKWITH-WIEDEMANN SYNDROME; BWS | 2 | * |
TRIPLOID CHROMOSOME NUMBER | 2 | * |
ISOCHROMOSOME | 2 | * |
HYPERGLYCEROLEMIA | 2 | * |
NIJMEGEN BREAKAGE SYNDROME | 2 | * |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A | 1 | |
SPHEROCYTOSIS, HEREDITARY; HS | 1 | |
PSEUDODICENTRIC CHROMOSOME | 1 | |
GILLES DE LA TOURETTE SYNDROME; GTS | 1 | |
XXXX SYNDROME | 1 | |
XXXY AND XXXXY SYNDROME | 1 | |
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850 | 1 | |
MARKER CHROMOSOME | 1 | |
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 308700 | 1 | |
PELIZAEUS-MERZBACHER DISEASE; PMD | 1 | |
TUBEROUS SCLEROSIS; TS | 1 | |
CORNELIA DE LANGE SYNDROME 1; CDLS1 | 1 | |