15q11q13 microduplication syndrome
|
(Orphanet:238446)
|
15q24 microdeletion syndrome
|
(Orphanet:94065)
|
17p11.2 microduplication syndrome
|
(Orphanet:1713)
|
17q11.2 microduplication syndrome
|
(Orphanet:139474)
|
17q23.1q23.2 microdeletion syndrome
|
(Orphanet:261279)
|
19q13.11 microdeletion syndrome
|
(Orphanet:217346)
|
1q21.1 microduplication syndrome
|
(Orphanet:250994)
|
22q11.2 microduplication syndrome
|
(Orphanet:1727)
|
2p15p16.1 microdeletion syndrome
|
(Orphanet:261349)
|
3q29 microdeletion syndrome
|
(Orphanet:65286)
|
5p13 microduplication syndrome
|
(Orphanet:329802)
|
8q22.1 microdeletion syndrome
|
(Orphanet:178303)
|
ACTH-independent macronodular adrenal hyperplasia
|
(Orphanet:189427)
|
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1
|
(OMIM:608638)
|
ASPERGER SYNDROME, SUSCEPTIBILITY TO, 2
|
(OMIM:608631)
|
ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1
|
(OMIM:300494)
|
AUTISM
|
(OMIM:209850)
|
AUTISM, SUSCEPTIBILITY TO, 3
|
(OMIM:608049)
|
AUTISM, SUSCEPTIBILITY TO, 8
|
(OMIM:607373)
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
|
(OMIM:300425)
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
|
(OMIM:300495)
|
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
|
(OMIM:300496)
|
Angelman syndrome
|
(Orphanet:72)
|
Angio-osteohypertrophic syndrome
|
(Orphanet:2346)
|
Angioma serpiginosum
|
(Orphanet:95429)
|
Arthrogryposis multiplex congenita
|
(Orphanet:1037)
|
Atelosteogenesis type I
|
(Orphanet:1190)
|
BRACHYMESOMELIA-RENAL SYNDROME
|
(OMIM:113470)
|
Benign essential blepharospasm
|
(Orphanet:93955)
|
Benign familial epilepsy of childhood with rolandic spikes
|
(Orphanet:1945)
|
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
|
(OMIM:606842)
|
CHARGE syndrome
|
(Orphanet:138)
|
Catel-Manzke syndrome
|
(Orphanet:1388)
|
Cholestasis - pigmentary retinopathy - cleft palate
|
(Orphanet:1415)
|
Constriction rings syndrome
|
(Orphanet:295000)
|
Cornelia de Lange syndrome
|
(Orphanet:199)
|
Costello syndrome
|
(Orphanet:3071)
|
Craniofaciofrontodigital syndrome
|
(Orphanet:363705)
|
Cronkhite-Canada syndrome
|
(Orphanet:2930)
|
De Barsy syndrome
|
(Orphanet:2962)
|
Dissecting cellulitis of the scalp
|
(Orphanet:345)
|
Distal monosomy 10q
|
(Orphanet:96148)
|
Distal monosomy 15q
|
(Orphanet:1596)
|
Distal monosomy 6p
|
(Orphanet:96125)
|
Down syndrome
|
(Orphanet:870)
|
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET
|
(OMIM:129540)
|
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
|
(OMIM:600906)
|
ENAMEL HYPOPLASIA, CATARACTS, AND AQUEDUCTAL STENOSIS
|
(OMIM:600907)
|
Exstrophy-epispadias complex
|
(Orphanet:322)
|
Familial hyperthyroidism due to mutations in TSH receptor
|
(Orphanet:424)
|
Femoral-facial syndrome
|
(Orphanet:1988)
|
Fine-Lubinsky syndrome
|
(Orphanet:1272)
|
Frontonasal dysplasia
|
(Orphanet:250)
|
Frontotemporal dementia
|
(Orphanet:282)
|
Gastrointestinal stromal tumor
|
(Orphanet:44890)
|
Gómez-López-Hernández syndrome
|
(Orphanet:1532)
|
HOLOPROSENCEPHALY 2
|
(OMIM:157170)
|
HOLOPROSENCEPHALY 9
|
(OMIM:610829)
|
HYPERLEXIA
|
(OMIM:238350)
|
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
|
(OMIM:609943)
|
Hallermann-Streiff syndrome
|
(Orphanet:2108)
|
Hypomyelination with atrophy of basal ganglia and cerebellum
|
(Orphanet:139441)
|
Inclusion body myositis
|
(Orphanet:611)
|
Intellectual deficit - cataracts - calcified pinnae - myopathy
|
(Orphanet:3042)
|
Isolated cloverleaf skull syndrome
|
(Orphanet:2343)
|
Isolated congenital hypoglossia/aglossia
|
(Orphanet:141152)
|
Isolated focal cortical dysplasia type II
|
(Orphanet:268994)
|
Jacobsen syndrome
|
(Orphanet:2308)
|
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS
|
(OMIM:245160)
|
Kleefstra syndrome
|
(Orphanet:261494)
|
Koolen-De Vries syndrome
|
(Orphanet:96169)
|
LAZY LEUKOCYTE SYNDROME
|
(OMIM:150550)
|
Larsen-like osseous dysplasia - short stature
|
(Orphanet:2370)
|
Lenz-Majewski hyperostotic dwarfism
|
(Orphanet:2658)
|
Linear nevus sebaceus syndrome
|
(Orphanet:2612)
|
Lissencephaly due to LIS1 mutation
|
(Orphanet:95232)
|
MARFANOID HABITUS WITH SITUS INVERSUS
|
(OMIM:609008)
|
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE
|
(OMIM:609037)
|
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
|
(OMIM:607597)
|
MURCS association
|
(Orphanet:2578)
|
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
|
(OMIM:609500)
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
Megalencephaly-capillary malformation-polymicrogyria syndrome
|
(Orphanet:60040)
|
Microgastria - limb reduction defect
|
(Orphanet:2538)
|
Moebius syndrome
|
(Orphanet:570)
|
Monomelic amyotrophy
|
(Orphanet:65684)
|
Monosomy 18p
|
(Orphanet:1598)
|
Monosomy 18q
|
(Orphanet:1600)
|
Monosomy 22q13
|
(Orphanet:48652)
|
Monosomy 5p
|
(Orphanet:281)
|
Monosomy 9p
|
(Orphanet:261112)
|
Multiple epiphyseal dysplasia, Lowry type
|
(Orphanet:166016)
|
Multiple system atrophy
|
(Orphanet:102)
|
Myasthenia gravis
|
(Orphanet:589)
|
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
|
(Orphanet:86841)
|
Neuroblastoma
|
(Orphanet:635)
|
Neurocutaneous melanocytosis
|
(Orphanet:2481)
|
Obesity due to prohormone convertase I deficiency
|
(Orphanet:71528)
|
Oculocerebrocutaneous syndrome
|
(Orphanet:1647)
|
Orofaciodigital syndrome type 11
|
(Orphanet:141000)
|
PSEUDOPILI ANNULATI
|
(OMIM:613241)
|
Pachygyria - epilepsy - intellectual deficit - dysmorphism
|
(Orphanet:94084)
|
Paris-Trousseau thrombocytopenia
|
(Orphanet:851)
|
Polycythemia vera
|
(Orphanet:729)
|
Prader-Willi syndrome
|
(Orphanet:739)
|
Progressive hemifacial atrophy
|
(Orphanet:1214)
|
Proteus syndrome
|
(Orphanet:744)
|
Pseudohypoparathyroidism type 1B
|
(Orphanet:94089)
|
Pseudohypoparathyroidism type 2
|
(Orphanet:94090)
|
Pseudoleprechaunism syndrome, Patterson type
|
(Orphanet:2976)
|
RENAL CELL CARCINOMA, NONPAPILLARY
|
(OMIM:144700)
|
Retinoblastoma
|
(Orphanet:790)
|
Retinopathy - anemia- central nervous system anomalies
|
(Orphanet:3088)
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
SATOYOSHI SYNDROME
|
(OMIM:600705)
|
SENER SYNDROME
|
(OMIM:606156)
|
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS
|
(OMIM:609616)
|
Shprintzen-Goldberg syndrome
|
(Orphanet:2462)
|
Silver-Russell syndrome
|
(Orphanet:813)
|
Smith-Magenis syndrome
|
(Orphanet:819)
|
Sneddon syndrome
|
(Orphanet:820)
|
Sotos syndrome
|
(Orphanet:821)
|
Sprengel deformity
|
(Orphanet:3181)
|
Stiff person syndrome
|
(Orphanet:3198)
|
Sturge-Weber syndrome
|
(Orphanet:3205)
|
THAI SYMPHALANGISM SYNDROME
|
(OMIM:608028)
|
Testicular teratoma
|
(Orphanet:363483)
|
Tubulointerstitial nephritis and uveitis syndrome
|
(Orphanet:91500)
|
VACTERL/VATER association
|
(Orphanet:887)
|
VITAMIN D-DEPENDENT RICKETS, TYPE 2B, WITH NORMAL VITAMIN D RECEPTOR
|
(OMIM:600785)
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|