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