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Van der woude Syndrome
Holt Oram Syndrome
Cri du Chat
Williams Syndrome
Angelman Syndrome
Prader-Willi syndrome
Miller-Dieker syndrome
Ochoa Syndrome
Wolf Hirschhorn Syndrome
Jacobsen Syndrome
Pallister Killian Syndrome
Edward Syndrome
(Trisomy 18)
Patau Syndrome
(Trisomy 13)
Mosaic Trisomy 8
Turner Syndrome
Klinefelter Syndrome
47,XXX
Microtia
Beckwith-Wiedemann Syndrome
CDKN1C
Huntington Disease
Myotonic Dystrophy type 1
(DM1)
Fragile X
Kennedy disease
(SBMA)
Spinocerebellar ataxia 1
(SCA1)
Spinocerebellar ataxia 2
(SCA2)
Machado-Joseph Disease
(MJD, SCA3)
PSEN1
Proteus Syndrome
Stickler Syndrome
Rubinstein-Taybi Syndrome
Transthyretin Amyloidosis
Cardio-Facio-Cutaneous Syndrome
Friedreich Ataxia
(FA)
Fragile X site E
(FRAXE)
Oculopharyngeal muscular dystrophy
Myotonic Dystrophy type 2
Unverricht-Lundborg Disease
(Progressive myoclonic epilepsy)
Spinocerebellar ataxia type 10
Fibrodysplasia Ossificans Progressiva
Noonan Syndrome with Multiple Lentigines
(formerly LEOPARD Syndrome)
Holoprosencephaly
Hand-Foot-Genital Syndrome
Synpolydactyly
Bosley-Saleh-Alorainy syndrome
Congenital Vertical Talus
Waardenburg Syndrome type 1
Waardenburg Syndrome type 2
Renal-Coloboma Syndrome
WAGR Syndrome
Campomelic Dysplasia
Waardenburg Syndrome type IV
Anopthalmia-esophageal-genital Syndrome
Ulnar-Mammary Syndrome
Greig Cephalopolysyndactyly
Pallister-Hall Syndrome
Denys-Drash Syndrome
Nonsyndromic Deafness
Laterality defects
Apert Syndrome
Crouzon Syndrome
Pfeiffer Syndrome
Achondroplasia
Hypochondroplasia
Thanatophoric Dysplasia
22q11 deletion syndrome
Oculo-auriculo-vertebral spectrum (OAVS)
Treacher Collins Syndrome
Branchio-oto-renal syndrome
Pierre-Robin Sequence
Townes-Brock Syndrome
Auriculo-condylar syndrome
Oro-facial-digital syndrome
(types I to X)
Otopalatodigital syndrome
Alstrom Syndrome
Jeune asphyxiating thoracic dystrophy
Bardet-Biedl Syndrome
Cranioectodermal dysplasia
(Sensenbrenner syndrome)
Ellis-van Crefeld Syndrome
Joubert Syndrome
Leber Congenital Amaurosis
McKusick-Kaufman Syndrome
Meckel-Gruber Syndrome
Nephronophthisis types 1-4
AD Polycystic Kidney Disease
Primary ciliary dyskinesia
(Kartegener syndrome)
Short-rib polydactyly syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Limb-Girdle Muscular Dystrophy
LMNA
FLNA
X-linked hypophosphatemia
Leri-Weil dyschondrosteosis
Russell-Silver Syndrome
Cleft Lip and Palate
Pyloric Stenosis
Ankylosing Spondylitis
Hemoglobin Protein
Hb A
Hb A2
Hb F
Locus control region
(lcr)
Hb S
Hb C
Hb Kempsey
Hb Hammersmith
Hb E
PSEN2
16p11.2 Deletion Syndrome
Hirschsprung Disease
Hb Lepore/anti-lepore
Methmoglobin
Sickle Cell Disease
Sickle Cell Trait
Thalassemias
Alpha-thalassemia
Beta-Thalassemia
Hb Contant Spring
Hereditary Persistence of Fetal Hemoglobin
N-acetyltransferase activity
Pseudocholinesterase deficiency
Glucose 6-phosphate dehydrogenase Deficiency
CYP2C9 Gene
CYP2D6
Malignant Hyperthermia
Thiopurine S-Methyltransferase
Dihydropyrimidine Dehydrogenase
Maturity-Onset Diabetes of the Young
Transient Neonatal Diabetes Mellitus
Abacavir
Macrophage
Toll-like Receptor pathway
Natural Killer Cells
Interferon
Mannose-Binding Lectin Pathway
Opsonisation
Inflammatory cytokines
Membrane Attack Complex
(MAC)
IgG
IgM
IgA
IgD
IgE
Light chain
Major Histocompatibility Complex Type I
Major Histocompatibility Complex Type II
Human Leukocytes Antigen
(HLA, Class III MHC)
HLADR4
HLA A3
HLA DR3
HLA DR4
Hereditary Angioedema
Chronic Granulomatous Disease
Congenital Neutropenia
Wiskott-Aldrich Syndrome
Leukocyte adhesion deficiency
Autoimmune-Poly Endocrinopathy-Candidosis Ectodermal Dysplasia Syndrome
Bruton-type agammaglobulinemia
Hyper-IgM syndrome
GATA1 Related XL Cytopenia
Common Variable immunodeficiency
Severe Combined Immunodeficiency
Universal recipients
Universal donor
Familial Hyperinsulinism
(Permanent Neonatal Diabetes Mellitus)
X-linked IPEX syndrome
(Immune dysregulation, Polyendocrinopathy, Enteropathy)
1p21.1 deletion
15q13.3 deletion
APP
APOE
Hemochromatosis
Venous Thrombosis
Noonan Syndrome
RAS-MAPK Pathway
Sotos Syndrome
Costello Syndrome
Hereditary Hemorrhagic Telangiectasia
Neural Tube Defects
Duplicated 22q11.2
Smith-Magenis Syndrome
1p36 deletion syndrome
9q34 deletion syndrome
17q21.31 Deletion Syndrome
1q21.1 Deletion Syndrome
Ataxia Telangiectasia
Bloom Syndrome
Fanconi Anemia
Xeroderma Pigmentosa
Werner Syndrome
Hypohydrotic Ectodermal Dysplasia
Incontinentia Pigmenti
Ichthyosis
Epidermolysis Bullosa
Alpha-1 Antitrypsin
Alagille Syndrome
Heritable Pulmonary Arterial Hypertension
Idiopathic Pulmonary Fibrosis
Thiamine Responsive Megaloblastic Anemia
Cartilage Hair Hypoplasia
(Anauxetic Dysplasia Spectrum)
Loeys Dietz Syndrome
Age-related macular degeneration
