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A B
C D
E F
G H
I J
K L
M
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O P
Q R
S T
U V
W X
Y Z
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A |
About Disease |
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Achalasia-Addisonianism-Alacrima Syndrome; AAAS |
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Analbuminenia |
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Angiotensin I-Converting
Enzyme; ACE |
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Apolipoprotein E; APOE |
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Arterial Tortuosity Syndrome;
ATS |
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Ataxia With Vitamin E
Deficiency, AVED |
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Atrial -Septal-Defect with
atrioventricular conduction defects; NKX2.5 |
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Autism |
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B |
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Bare Lymphocyte Type I; TAP2 |
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Bare Lymphocyte Type II,
Complementation Group D; RFXAP |
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Beta-thalassemia; HBB |
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Bloom Syndrome; BLM |
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C |
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Cataract Congenital Cerulean,
Type 3; CCA3 |
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Chanarin-Dorfman Syndrome; CDS |
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Charcot-Marie-Tooth Disease,
Axonal, Type 2B; CMT2B |
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Charcot-Marie-Tooth Disease,
Axonal, Type 2B1; CMT2B1 |
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Charcot-Marie-Tooth Disease,
Axonal, Type 4C; CMT4C |
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Charcot-Marie-Tooth Disease Type 4A; CMT4A |
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Charcot-Marie-Tooth Disease
Type 4B2; CMT4B2 |
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Charcot-Marie-Tooth Disease
X-Linked; CMTX1 |
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Colorectal Adenomatous
Polyposis, autosomal recessive; MYH |
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Cone-Rode Dystrophy 3; CORD3 |
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Congenital Adrenal
Hyperplasia, Due to 21-Hydroxylase Deficiency |
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Congenital disorder of glycosylation, Type IIe; COG7 |
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Creutzfeld-Jakob Disease; CJD |
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Cystic Fibrosis; CF |
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D |
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D-Bifunctional Protein
Deficiency; HSD17B4 |
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Deafness, Autosomal Recessive
59; DFNB59 |
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Deafness, Neurosensory,
Autosomal Recessive; DFNB1 |
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Diabetes Mellitus, Type A
Insulin-Resistance; INSR |
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Diamond-Blackfan anemia; DBA |
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Digeorge Syndrome; DGS |
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Dyggve-Melchior-Clausen
Syndrome; DMC |
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E |
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Ectodermal Dysplasia,
Anhidrotic; EDAR |
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Ectodermal Dysplasia,
Anhidrotic; EDARADD |
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Epidermolysis Bullosa with
Pyloric Atresia; PA-JEB |
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Epilepsy, Myoclonic,
Unverricht and Lundborg; EPM1 |
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F |
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Fabry Disease; GLA |
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Facioscapulohumeral Muscular
Dystrophy; FSHMD1A |
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Factor V Deficiency; F5 |
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Factor XI Deficiency; F11 |
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Familial Hypercholesterolemia;
LDLR |
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Familial Hyperchylomicronemia;
LPL |
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Familial Mediterranean Fever;
FMF |
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Fragile X Mental Retardation
Syndrome; FRAXA |
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Fructose-1-6-Biphosphatase
Deficiency; FBP1 |
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Fumarase Deficiency; FH |
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G |
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Gamma-Glutamylcysteine
Synthetase Deficiency, Hemolytic Anemia Due To |
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Glaucoma 1, Open Angle A;
GLC1A |
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Glaucoma 3, Primary Congenital
A; GLC3A |
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Glaucoma, Primary Open Angle;
GLC1E |
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Goldberg-Shprintzen megacolon
Syndrome; EDNRB |
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Goldberg-Shprintzen Syndrome;
KIAA1279 |
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Growth Hormone-Releasing
Hormone Receptor Deficiency; GHRHR |
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H |
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Hemochromatosis; HFE |
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Hemophilia A; F8C |
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Hereditary Spastic Paraplegia |
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Huntington Disease-Like; HDL2 |
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Hurler syndrome; IDUA |
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I |
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Ichthyosis Lamellar type2; LI2 |
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Incontinentia Pigmenti; IP2 |
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Infertility Associated with
Multi-tailed spermatozoa and large heads |
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J |
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K |
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L |
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Leber Congenital Amaurosis;
AIPL1 |
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Leber Congenital Amaurosis;
GUCY2D |
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Leber Congenital Amaurosis;
LCA5 |
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Leber Congenital Amaurosis;
LCA6 |
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Leber Congenital Amaurosis;
RPE65 |
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Lipodystrophy, Congenital
Generalized, Type 1; CGL1 |
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Lowe Oculo-Cerebro-Renal
Syndrome, OCRL |
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Lysinuric Protein Intolerance;
LPI |
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M |
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Malignant Hyperthermia; MHS1 |
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Mental Retardation, X-linked;
PQBP1 |
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Mental Retardation, X-linked;
TM4SF2 |
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3-Methylglutaconic Aciduria
Type I; AUH |
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3-M syndrome, CUL7 |
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Microcephaly Polymicrogyria
Corpus Collosum Agenesis; TBR2 |
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Mitochondrial DNA Depletion
Syndrome; MDS |
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Morquio Syndrome A,
Mucopolysaccharidosis Type IVA; MPS4A |
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Mowat-Wilson; ZFHX1B |
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Mucopolysaccharidosis type
IIIC, Sanfilippo C Syndrome |
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Multiple Endocrine Neoplasie
type IIA; MEN2A |
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Muscular Dystrophy, Becker
type; BMD |
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Muscular Dystrophy,
Congenital Merosin-Deficient; MDC1A |
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Muscular Dystrophy, Duchenne
type; DMD |
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Muscular Dystrophy,
Limb-Girdle type 2C; LGMD2C |
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Muscular Dystrophy,
Limb-Girdle type 2D; LGMD2D |
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Mycobacterium tuberculosis,
Susceptibility to infection by; IL12RB1 |
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N |
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Nephrosis congenital, type 1;
NPHS1 |
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Neuropathy Hereditary Sensory
with Spastic paraplegia; CCT5 |
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Niemann-Pick Disease Type B;
SMPD1 |
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Noonan Syndrome; PTPN11 |
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O |
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Oculocutaneous Albinism, Type
1; OCA1 |
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OMENN |
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Otospondylomegaepiphyseal
Dysplasia; COL11A2 |
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P |
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Papillon-Lefevre Syndrome;
PALS |
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Parkinson Disease 8, PARK8 |
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Parkinson Disease Autosomal
Recessive Juvenile; PARK2 |
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Persistent Mullerian Duct
Syndrome TypeI; PMDS |
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Phosphoglycerate dehydrogenase
deficiency; PHGDH |
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Polycystic Kidney Disease,
Autosomal Recessive; ARPKD |
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Prader-Willi Syndrome; PWS |
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Protease Inhibitor 1; Alpha-1
Antitrypsin Deficiency; SERPINA 1 |
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Q |
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R |
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Retinitis Pigmentosa; MERTK |
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Retinitis Punctata Albescens;
RLBP1 |
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Retinal Cone Dystrophy 3B;
RCD3B |
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Rett Syndrome; RTT |
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S |
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Schindler Disease; NAGA |
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Short Stature, Idiopathic,
Autosomal; GHSR |
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Sjögren-Larsson
Syndrome, SLS |
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Spastic Paraplegia 7,
autosomal recessive, SPG7 |
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Spinal Muscular Atrophy type
I; SMN1 |
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Spinal Muscular Atrophy type
II; SMN2 |
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Spinal Muscular Atrophy type
III; SMN3 |
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Spinal Muscular Atrophy type
IV; SMN4 |
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Stickler Syndrome autosomal
recessive, COL9A1 |
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T |
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Thiopurine S-Methyl
Transferase; TPMT |
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Thromboembolism susceptibility
due to factor V Leiden; F5 |
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U |
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Ullrich Congenital muscular
dystrophy; UCMD |
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Usher Syndrome Type 1B; USH1B |
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V |
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Vitamin D-Dependent Rickets
Type II; VDDR II |
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W |
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Walker-Warburg Syndrome; POMT2 |
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Williams-Beuren Syndrome; WBS |
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X |
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Xeroderma Pigmentosum /
Cockayne Syndrome Complex; XPG |
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Xeroderma Pigmentosum,
Complementation Group C; XPC |
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Y |
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Z |
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