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Validated interaction search between OMIM disorder and miRNA


Select OMIM disorder

1720-lyase deficiency isolated
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
2-methylbutyrylglycinuria
3-beta-hydroxysteroid dehydrogenase type II deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-M syndrome
3-Methylcrotonyl-CoA carboxylase 1 deficiency
3-Methylcrotonyl-CoA carboxylase 2 deficiency
3-methylglutaconic aciduria type I
3-methylglutaconic aciduria type V
3q21q26 syndrome
5-fluorouracil toxicity
6-mercaptopurine sensitivity
Aarskog-Scott syndrome
Abacavir hypersensitivity susceptibility
Abruptio placentae susceptibility
ACAD9 deficiency
Acampomelic campomelic dysplasia
ACAT2 deficiency
Acatalasemia
Accelerated tumor formation susceptibility
Acetylation slow
Acetyl-CoA carboxylase deficiency
Achalasia-addisonianism-alacrimia syndrome
Achondrogenesis Ib
Achromatopsia-2
Achromatopsia-3
Achromatopsia-4
Acquired long QT syndrome reduced susceptibility
Acrocapitofemoral dysplasia
Acrodermatitis enteropathica
Acrokeratosis verruciformis
Acromesomelic dysplasia Hunter-Thompson type
Acromesomelic dysplasia Maroteaux type
Acyl-CoA dehydrogenase long chain deficiency
Acyl-CoA dehydrogenase medium chain deficiency
Acyl-CoA dehydrogenase short-chain deficiency
Adenoma periampullary
Adenomas multiple colorectal
Adenomas salivary gland pleomorphic
Adenylosuccinase deficiency
Adhalinopathy primary
Adiponectin deficiency
Adrenal hyperplasia congenital due to 11-beta-hydroxylase deficiency
Adrenal hypoplasia congenital with hypogonadotropic hypogonadism
Adrenal insufficiency congenital with or without 46 XY sex reversal
Adrenomyeloneuropathy
Advanced sleep phase syndrome familial
Afibrinogenemia congenital
Agammaglobulinemia
Agammaglobulinemia and isolated hormone deficiency
Agammaglobulinemia autosomal recessive
Agammaglobulinemia non-Bruton type
AGAT deficiency
Agenesis of the corpus callosum with peripheral neuropathy
Age-related maculopathy susceptibility
Aicardi-Goutieres syndrome 3
Aicardi-Goutieres syndrome 4
AICA-ribosiduria due to ATIC deficiency
AIDS delayed/rapid progression
AIDS rapid progression
AIDS resistance
AIDS slow progression
Alagille syndrome 2
Alcohol dependence susceptibility
Alcoholism susceptibility
Aldolase A deficiency
Alexander disease
Alkaptonuria
Allergic rhinitis susceptibility
Alopecia neurologic defects and endocrinopathy syndrome
Alopecia universalis
Alpha-1-antichymotrypsin deficiency
Alpha-actinin-3 deficiency
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-methylacetoacetic aciduria
Alpha-methylacyl-CoA racemase deficiency
Alpha-thalassemia myelodysplasia syndrome somatic
Alpha-thalassemia/mental retardation syndrome type
Alport syndrome
Alport syndrome autosomal recessive
Alstrom syndrome
Alternating hemiplegia of childhood
Alveolar soft-part sarcoma
Alzheimer disease 1 familial
Alzheimer disease late-onset
Alzheimer disease late-onset susceptibility
Alzheimer disease pathogenesis association with
Alzheimer disease susceptibility
Alzheimer disease-10
Alzheimer disease-4
Amelogenesis imperfecta 2 hypoplastic local
Amelogenesis imperfecta hypoplastic/hypomaturation type
Amelogenesis imperfecta pigmented hypomaturation type
Aminoacylase 1 deficiency
Amish infantile epilepsy syndrome
AMP deaminase deficiency erythrocytic
Amyloidosis 3 or more types
Amyloidosis Finnish type
Amyloidosis primary localized cutaneous
Amyloidosis renal
Amyloidosis secondary susceptibility
Amyotrophic lateral sclerosis 11
Amyotrophic lateral sclerosis 4 juvenile
Amyotrophic lateral sclerosis 9
Amyotrophic lateral sclerosis due to SOD1 deficiency
Amyotrophic lateral sclerosis susceptibility
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 susceptibility
Analgesia from kappa-opioid receptor agonist female-specific
Anemia congenital dyserythropoietic type I
Anemia Diamond-Blackfan
Anemia hemolytic due to UMPH1 deficiency
Anemia hypochromic microcytic
Anemia sideroblastic with ataxia
Aneurysm familial arterial
Angelman syndrome
Angioedema hereditary type III
Angioedema hereditary types I and II
Angioedema induced by ACE inhibitors susceptibility
Anterior segment mesenchymal dysgenesis
Antibody deficiency due to defect in CD19
Antithrombin III deficiency
Aortic aneurysm familial thoracic
Aortic aneurysm familial thoracic 4
Aortic aneurysm familial thoracic 6
Aortic valve disease
Aplasia of lacrimal and salivary glands
Aplastic anemia
Aplastic anemia susceptibility
Apolipoprotein A-II deficiency
Apolipoprotein C3 deficiency
Apolipoprotein H deficiency
Apparent mineralocorticoid excess hypertension
Aquaporin-1 deficiency
ARC syndrome
Argininemia
Argininosuccinic aciduria
Aromatic L-amino acid decarboxylase deficiency
Arrhythmogenic right ventricular dysplasia 1
Arrhythmogenic right ventricular dysplasia familial 10
Arrhythmogenic right ventricular dysplasia familial 11
Arrhythmogenic right ventricular dysplasia familial 12
Arrhythmogenic right ventricular dysplasia familial 5
Arrhythmogenic right ventricular dysplasia familial 9
Arterial tortuosity syndrome
Arthrogryposis distal type 2A
Arthrogryposis lethal with anterior horn cell disease
Arthrogryposis multiplex congenita distal type 1
Arthrogryposis multiplex congenita distal type 2B
Arthyrgryposis distal type 2B
Arts syndrome
Aspartylglucosaminuria
Asperger syndrome susceptibility to X-linked-2
Asphyxiating thoracic dystrophy
Asphyxiating thoracic dystrophy 2
Asthma aspirin-induced susceptibility
Asthma diminished response to antileukotriene treatment in
Asthma nocturnal susceptibility
Asthma protection against
Asthma susceptibility 5
Asthma susceptibility
Asthma susceptibility to 1
Asthma-related traits susceptibility to 7
Ataxia cerebellar Cayman type
Ataxia with isolated vitamin E deficiency
Ataxia-telangiectasia-like disorder
Athabaskan brainstem dysgenesis syndrome
Atherosclerosis susceptibility
Atopy susceptibility
Atrial fibrillation
Atrial fibrillation familial
Atrial fibrillation familial 4
Atrial fibrillation familial 6
Atrial fibrillation familial 7
Atrial septal defect
Atrial septal defect 4
Atrial septal defect-2
Atrioventricular septal defect susceptibility to 2
Attention deficit-hyperactivity disorder susceptibility
Attention-deficit hyperactivity disorder susceptibility
Autism chromosome 22q13.3 deletion syndrome-related
Autism susceptibility
Autism susceptibility to 10
Autism susceptibility to 15
Autism susceptibility to X-linked-1
Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia
Autoimmune thyroid disease susceptibility to 3
Azoospermia due to perturbations of meiosis
Bacteremia protection against
Bamforth-Lazarus syndrome
Bardet-Biedel syndrome 10
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 1 modifier
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14 modifier
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 9
Bare lymphocyte syndrome type I
Bare lymphocyte syndrome type II complementation group C
Bare lymphocyte syndrome type II complementation group D
Bartter syndrome type 1
Bartter syndrome type 2
Bartter syndrome type 3
Bartter syndrome type 4
Basal cell carcinoma somatic
Basal ganglia disease adult-onset
Basal ganglia disease biotin-responsive
B-cell non-Hodgkin lymphoma high-grade
Becker muscular dystrophy
Becker muscular dystrophy modifier
Beckwith-Wiedemann syndrome
Benzene toxicity susceptibility
Bernard-Soulier syndrome type C
Bietti crystalline corneoretinal dystrophy
Bile acid malabsorption primary
Bile acid synthesis defect congenital 2
Biotinidase deficiency
Birk-Barel mental retardation dysmorphism syndrome
Bjornstad syndrome
Bladder cancer somatic
Bleeding disorder due to defective thromboxane A2 receptor
Bleeding disorder due to P2RX1 defect
Bleeding disorder due to P2RY12 defect
Blood group ABO system
Blood group Auberger system
Blood group Cad system
Blood group Cromer
Blood group Dombrock
Blood group Duffy system
Blood group Gerbich
Blood group GIL
Blood group Ii
Blood group John-Milton-Hagen
Blood group Kell
Blood group Kidd
Blood group Knops system
Blood group Landsteiner-Wiener
Blood group Lewis
Blood group MN
Blood group OK
Blood group P system
Blood group Radin
Blood group Raph
Blood group Ss
Blood group Stoltzfus system
Blood group XG system
Blood group Yt system
Blood group Lutheran inhibitor
Blood pressure regulation QTL
Bloom syndrome
Blue-cone monochromacy
Bombay phenotype
Bone mineral density QTL 12
Borjeson-Forssman-Lehmann syndrome
Brachiootic syndrome 3
Brachydactyly type A2
Brachyolmia type 3
Bradyopsia
Branchiooculofacial syndrome
Branchiootorenal syndrome 2
Breast cancer
Breast cancer early-onset
Breast cancer invasive intraductal
Breast cancer protection against
Breast cancer somatic
Breast cancer sporadic
Breast cancer susceptibility
Breast-ovarian cancer familial 1
Brody myopathy
Bruck syndrome 2
Brugada syndrome 2
Brugada syndrome 5
Brunner syndrome
Budd-Chiari syndrome
Burkitt lymphoma
Buruli ulcer susceptibility
C syndrome
C1q deficiency type A
C1q deficiency type B
C1q deficiency type C
C1r/C1s deficiency combined
C6 deficiency
C7 deficiency
C8 deficiency type II
C9 deficiency
Camurati-Engelmann disease
Canavan disease
Cancer progression/metastasis
Carbohydrate-deficient glycoprotein syndrome type Ib
Carbohydrate-deficient glycoprotein syndrome type II
Carboxylesterase 1 deficiency
Carboxypeptidase N deficiency
Cardiac arrhythmia ankyrin-B-related
Cardiac conduction defect susceptibility
Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency
Cardiomyopathy dilated
Cardiomyopathy dilated 1AA
Cardiomyopathy dilated 1D
Cardiomyopathy dilated 1J
Cardiomyopathy dilated 1L
Cardiomyopathy dilated 1M
Cardiomyopathy dilated 1N
Cardiomyopathy dilated 1O
Cardiomyopathy dilated 1P
Cardiomyopathy dilated 1R
Cardiomyopathy dilated 1T
Cardiomyopathy dilated 1W
Cardiomyopathy dilated 1Y
Cardiomyopathy dilated 1Z
Cardiomyopathy dilated 2A
Cardiomyopathy familial dilated 1B
Cardiomyopathy familial hypertrophic 10
Cardiomyopathy familial hypertrophic 4
Cardiomyopathy familial hypertrophic 8
Cardiomyopathy hypertrophic 6 with WPW
Cardiomyopathy hypertrophic early-onset fatal
Cardiomyopathy hypertrophic midventricular digenic
Carnitine acetyltransferase deficiency
Carnitine deficiency systemic primary
Carnitine-acylcarnitine translocase deficiency
Carotid stenosis susceptibility
Carpenter syndrome
Cataract autosomal dominant multiple types 1
Cataract autosomal dominant nuclear
Cataract cerulean type
Cataract congenital cerulean type 3
Cataract congenital cerulean type 4
Cataract congenital nuclear 2
Cataract congenital nuclear autosomal recessive 3
Cataract congenital total
Cataract Coppock-like
Cataract cortical juvenile-onset
Cataract cortical pulverulent late-onset
Cataract lamellar 2
Cataract Marner type
Cataract polymorphic and lamellar
Cataract posterior polar
Cataract posterior polar 3
Cataract progressive polymorphic cortical
Cataract zonular pulverulent-3
Caudal duplication anomaly
Caudal regression syndrome
Cavernous malformations of CNS and retina
Cayler cardiofacial syndrome
CD4+ lymphocyte deficiency
CD59 deficiency
Celiac disease susceptibility
Celiac disease susceptibility to 212750
Celiac disease susceptibility to 4
Central hypoventilation syndrome congenital
Centronuclear myopathy autosomal modifier
Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion
Cerebral amyloid angiopathy
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral cavernous malformations 3
Cerebral cavernous malformations-2
Cerebral infarction susceptibility
Cerebral palsy ataxic autosomal recessive
Cerebral palsy spastic symmetric autosomal recessive
Cerebrooculofacioskeletal syndrome 4
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 10
Ceroid lipofuscinosis neuronal 7
Ceroid lipofuscinosis neuronal 8
Ceroid lipofuscinosis neuronal variant juvenile type with granular osmiophilic deposits
Ceroid-lipofuscinosis neuronal 2 classic late infantile
Ceroid-lipofuscinosis neuronal-3 juvenile
Ceroid-lipofuscinosis neuronal-5 variant late infantile
Ceroid-lipofuscinosis neuronal-6 variant late infantile
Cervical carcinoma
CETP deficiency
Chanarin-Dorfman syndrome
Char syndrome
Charcot-Marie-Tooth disease axonal with vocal cord paresis
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth neuropathy X-linked dominant 1
CHARGE syndrome
Chediak-Higashi syndrome
Cherubism
CHILD syndrome
Chitotriosidase deficiency
Chloride diarrhea congenital Finnish type
Cholestasis benign recurrent intrahepatic
Cholestasis progressive canalicular
Cholestasis progressive familial intrahepatic 3
Cholestasis progressive familial intrahepatic 4
Cholesterol level QTL 1
Chondrocalcinosis 2
Chondrodysplasia Blomstrand type
Chondrodysplasia punctata rhizomelic type 2
Chondrodysplasia punctata X-linked dominant
Chondrodysplasia punctata X-linked recessive
Chondrosarcoma
Chondrosarcoma extraskeletal myxoid
Chorea hereditary benign
Chorioathetosis with mental retardation and abnormal behavior
Choroideremia
Chromosome 9q subtelomeric deletion syndrome
Chronic granulomatous disease autosomal due to deficiency of CYBA
Chronic granulomatous disease due to deficiency of NCF-2
Chronic granulomatous disease X-linked
Chronic infections due to MBL deficiency
Chylomicron retention disease
Ciliary dyskinesia primary 1 with our without situs inversus
Ciliary dyskinesia primary 11
Ciliary dyskinesia primary 12
Ciliary dyskinesia primary 6
Ciliary dyskinesia primary 9 with our without situs inversus
CINCA syndrome
Cirrhosis due to liver phosphorylase kinase deficiency
Cirrhosis North American Indian childhood type
Citrullinemia
Citrullinemia adult-onset type II
Cleft lip/palate susceptibility
Cleft palate and mental retardation
Cleft palate isolated
Cleidocranial dysplasia
Clubfoot congenital
Cockayne syndrome type A
Coenzyme Q10 deficiency
Coffin-Lowry syndrome
Cohen syndrome
Colchicine resistance
Cold-induced sweating syndrome
Cold-induced sweating syndrome 1
Colon cancer
Colon cancer advanced
Colon cancer hereditary nonpolypopsis type
Colon cancer somatic
Colonic adenoma recurrence reduced risk
Colorectal cancer
Colorectal cancer hereditary nonpolyposis type
Colorectal cancer hereditary nonpolyposis type 1
Colorectal cancer hereditary nonpolyposis type 2
Colorectal cancer somatic
Colorectal cancer sporadic
Colorectal cancer susceptibility
Colorectal cancer susceptiblity to 3
Colorectal cancer with chromosomal instability
Combined factor V and VIII deficiency
Combined oxidative phosphorylation deficiency 1
Combined oxidative phosphorylation deficiency 2
Combined oxidative phosphorylation deficiency 3
Combined oxidative phosphorylation deficiency 4
Combined oxidative phosphorylation deficiency 5
Combined SAP deficiency
Common variable immunodeficiency
Complement factor D deficiency
Complement factor I deficiency
Complex I mitochondrial respiratory chain deficiency
Complex V mitochondrial respiratory chain deficiency
Cone dystrophy progressive X-linked
Cone dystrophy-3
Cone-rod dystrophy 11
Cone-rod dystrophy 13
Cone-rod dystrophy 5
Cone-rod dystrophy 7
Congenital anomalies susceptibility
Congenital cataracts facial dysmorphism and neuropathy
Congenital disorder of glycosylation type Ic
Congenital disorder of glycosylation type Id
Congenital disorder of glycosylation type If
Congenital disorder of glycosylation type Ig
Congenital disorder of glycosylation type Ih
Congenital disorder of glycosylation type Ii
Congenital disorder of glycosylation type IIc
Congenital disorder of glycosylation type IId
Congenital disorder of glycosylation type IIf
Congenital disorder of glycosylation type IIg
Congenital disorder of glycosylation type Ij
Congenital disorder of glycosylation type Ik
Congenital disorder of glycosylation type Il
Congenital disorder of glycosylation type Im
Congenital disorder of glycosylation type In
Congenital hereditary endothelial dystrophy of cornea autosomal dominant
Congestive heart failure and beta-blocker response modifier
Contractural arachnodactyly congenital
COPD rate of decline of lung function
Coproporphyria
Cornea plana congenita recessive
Corneal dystrophy and perceptive deafness
Corneal dystrophy Avellino type
Corneal dystrophy congenital stromal
Corneal dystrophy crystalline of Schnyder
Corneal dystrophy gelatinous drop-like
Corneal dystrophy hereditary polymorphous posterior
Corneal dystrophy polymorphous posterior 2
Corneal dystrophy posterior polymorphous 3
Corneal endothelial dystrophy and perceptive deafness
Corneal fleck dystrophy
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 2
Cornelia de Lange syndrome 3
Coronary artery disease autosomal dominant 1
Coronary artery disease modifier
Coronary artery disease resistance
Coronary artery disease susceptibility
Coronary heart disease susceptibility to 5
Coronary heart disease susceptibility to 6
Corpus callosum agenesis of with mental retardation ocular coloboma and micrognathia
Corticosteroid-binding globulin deficiency
Cortisol resistance
Cortisone reductase deficiency
Cousin syndrome
CPT deficiency hepatic type IA
CPT II deficiency lethal neonatal
Craniofrontonasal dysplasia
Craniolenticulosutural dysplasia
Cranioosteoarthropathy
Craniosynostosis Adelaide type
CRASH syndrome
Creatine deficiency syndrome X-linked
Crohn disease ileal protection against
Crohn disease susceptibility
Crohn disease-associated growth failure
Cryptorchidism idiopathic
Cutis laxa autosomal dominant
Cutis laxa autosomal recessive type I
Cutis laxa marfanoid neonatal type
Cutis laxa recessive type I
Cystathioninuria
Cystinosis atypical nephropathic
Cystinuria
Cystinuria type II
Cytochrome c oxidase deficiency
D-2-hydroxyglutaric aciduria
Dandy-Walker malformation
D-bifunctional protein deficiency
Deafness autosomal dominant
Deafness autosomal dominant 1
Deafness autosomal dominant 15
Deafness autosomal dominant 20/26
Deafness autosomal dominant 22
Deafness autosomal dominant 25
Deafness autosomal dominant 28
Deafness autosomal dominant 2B
Deafness autosomal dominant 36
Deafness autosomal dominant 36 with dentinogenesis
Deafness autosomal dominant 3B
Deafness autosomal dominant 4
Deafness autosomal dominant 44
Deafness autosomal dominant 5
Deafness autosomal dominant 8/12
Deafness autosomal dominant 9
Deafness autosomal dominant nonsyndromic sensorineural
Deafness autosomal recessive
Deafness autosomal recessive 12 modifier
Deafness autosomal recessive 24
Deafness autosomal recessive 28
Deafness autosomal recessive 3
Deafness autosomal recessive 35
Deafness autosomal recessive 49
Deafness autosomal recessive 59
Deafness autosomal recessive 6
Deafness autosomal recessive 67
Deafness autosomal recessive 8 childhood onset
Deafness congenital with inner ear agenesis microtia and microdontia
Deafness mitochondrial modifier of
Deafness nonsyndromic
Deafness X-linked 1 progressive
DECR deficiency
Dejerine-Sottas neuropathy autosomal recessive
Delayed sleep phase syndrome susceptibility
Dementia familial British
Dementia familial nonspecific
Dementia Lewy body
Dengue fever protection against
Dent disease 2
Dentatorubro-pallidoluysian atrophy
Dermatofibrosarcoma protuberans
Dermatopathia pigmentosa reticularis
Desmosterolosis
Diabetes insipidus nephrogenic
Diabetes insipidus neurohypophyseal
Diabetes mellitus gestational
Diabetes mellitus insulin-dependent 19
Diabetes mellitus insulin-dependent 22
Diabetes mellitus insulin-dependent 5
Diabetes mellitus insulin-dependent susceptibility to 10
Diabetes mellitus insulin-dependent-1
Diabetes mellitus ketosis-prone
Diabetes mellitus noninsulin-dependent
Diabetes mellitus noninsulin-dependent 1
Diabetes mellitus noninsulin-dependent susceptibility
Diabetes mellitus transient neonatal
Diabetes mellitus transient neonatal 1
Diabetes mellitus type 1 susceptibility
Diabetes mellitus type 2 susceptibility
Diabetes mellitus type I susceptibility
Diabetes mellitus type II
Diabetes type 1 susceptibility
Diabetes type 2 susceptibility
Diamond-blackfan anemia
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diarrhea 3 secretory sodium congenital syndromic
Diarrhea 4 malabsorptive congenital
Dicarboxylicaminoaciduria
DiGeorge syndrome/velocardiofacial syndrome complex-2
Dihydropyrimidinuria
Dimethylglycine dehydrogenase deficiency
Diphtheria susceptibility to
DNA ligase I deficiency
DNA topoisomerase I camptothecin-resistant
DNA topoisomerase II resistance to inhibition of by amsacrine
Down syndrome
Doyne honeycomb degeneration of retina
Drug addiction susceptibility to
Duane retraction syndrome 2
Duane-radial ray syndrome
Dubin-Johnson syndrome
Dyggve-Melchior-Clausen disease
Dysalbuminemic hyperthyroxinemia
Dysautonomia familial
Dyschromatosis symmetrica hereditaria
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita-1
Dyslexia susceptibility to 1
Dyslexia susceptibility to 2
Dysprothrombinemia
Dystonia 16
Dystonia 6 torsion
Dystonia dopa-responsive due to sepiapterin reductase deficiency
Dystonia DOPA-responsive with or without hyperphenylalainemia
Dystonia juvenile-onset
Dystonia myoclonic
Dystonia-1 modifier of
Dystonia-12
Dystonia-17 primary torsion
Dystonia-Parkinsonism X-linked
Dystransthyretinemic hyperthyroxinemia
Earwax wet/dry
Ectodermal dysplasia anhidrotic autosomal dominant
Ectodermal dysplasia anhidrotic with T-cell immunodeficiency
Ectodermal dysplasia anhidrotic X-linked
Ectodermal dysplasia ectrodactyly and macular dystrophy
Ectodermal dysplasia 'pure' hair-nail type
Ectodermal dysplasia/skin fragility syndrome
Ehlers-Danlos due to tenascin X deficiency
Ehlers-Danlos syndrome progeroid form
Ehlers-Danlos syndrome type I
Ehlers-Danlos syndrome type VIIC
Elliptocytosis-1
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Encephalocardiomyopathy neonatal mitochondrial due to ATP synthase deficiency
Encephalopahty lethal due to defective mitochondrial peroxisomal fission
Encephalopathy familial with neuroserpin inclusion bodies
Encephalopathy progressive mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency
Endocrine-cerebroosteodysplasia
Endometrial stromal tumors
Endplate acetylcholinesterase deficiency
Enlarged vestibular aqueduct
Enolase deficiency
Enolase-beta deficiency
Enterokinase deficiency
Epidermodysplasia verruciformis
Epidermolysis bullosa generalized atrophic benign
Epidermolysis bullosa junctional Herlitz type
Epidermolysis bullosa junctional non-Herlitz type
Epidermolysis bullosa junctional with pyloric stenosis
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with pyloric atresia
Epidermolytic palmoplantar keratoderma
Epilepsy benign neonatal type 1
Epilepsy benign neonatal type 2
Epilepsy childhood absence 2
Epilepsy childhood absence 4
Epilepsy childhood absence 5
Epilepsy childhood absence evolving to juvenile myoclonic epilepsy
Epilepsy female-restricted with mental retardation
Epilepsy generalized idiopathic
Epilepsy idopathic generalized susceptibility
Epilepsy juvenile absence
Epilepsy myoclonic Lafora type
Epilepsy neonatal myoclonic with suppression-burst pattern
Epilepsy nocturnal frontal lobe type 4
Epilepsy partial with auditory features
Epilepsy progressive myoclonic 1
Epilepsy progressive myoclonic 1B
Epilepsy progressive myoclonic 3
Epilepsy pyridoxine-dependent
Epilepsy with grand mal seizures on awakening
Epilepsy X-linked with variable learning disabilities and behavior disorders
Epileptic encephalopathy early infantile 2
Epileptic encephalopathy early infantile 4
Epileptic encephalopathy Lennox-Gastaut type
Epiphyseal dysplasia multiple
Episodic ataxia type 6
Episodic ataxia/myokymia syndrome
Erythrocyte lactate transporter defect
Erythrocytosis familial 3
Escobar syndrome
Esophageal cancer
Esophageal carcinoma somatic
Esophageal squamous cell carcinoma
Esophagitis eosinophilic susceptibility
Ethylmalonic encephalopathy
Ewing sarcoma
Exfoliation syndrome susceptibility
Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis
Exostoses multiple type 2
Ezetimibe nonresponse
Fabry disease
Factor V and factor VIII combined deficiency
Factor X deficiency
Factor XI deficiency autosomal dominant
Factor XIIIA deficiency
Familial cold autoinflammatory syndrome 2
Familial Mediterranean fever AD
Fanconi anemia complementation group A
Fanconi anemia complementation group B
Fanconi anemia complementation group C
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group M
Fasting plasma glucose level QTL 1
Favism
Feingold syndrome
Fertile eunuch syndrome
Fetal akinesia deformation sequence
Fetal hemoglobin quantitative trait locus
Fetal hemoglobin quantitative trait locus 1
Fetal hemoglobin quantitative trait locus 5
FG syndrome 4
Fibromatosis gingival 2
Fibromatosis juvenile hyaline
Fibrosis of extraocular muscles congenital 1
Fibrosis of extraocular muscles congenital 2
Fletcher factor deficiency
Focal dermal hypoplasia
Folate malabsorption hereditary
Follicle-stimulating hormone deficiency isolated
Fragile X syndrome
Fraser syndrome
Friedreich ataxia with retained reflexes
Frontotemporal lobar degeneration with ubiquitin-positive inclusions
Fructose intolerance
Fructose-16-bidphosphatase deficiency
Fructosuria
Fucosidosis
Fucosyltransferase-6 deficiency
Fumarase deficiency
Fundus albipunctatus
GABA-transaminase deficiency
Galactokinase deficiency with cataracts
Galactose epimerase deficiency
Galactosemia
Galactosialidosis
GAMT deficiency
Gastric cancer risk after H. pylori infection
Gastrointestinal stromal tumor somatic
Gaze palsy horizontal with progressive scoliosis
Geleophysic dysplasia
Generalized epilepsy and paroxysmal dyskinesia
Geographic atrophy susceptibility to progression to in age-related macular degeneration
Giant axonal neuropathy-1
Gigantism due to GHRF hypersecretion
Gilbert syndrome
Gitelman syndrome
Glanzmann thrombasthenia type B
Glaucoma 1 open angle G
Glaucoma 1 open angle M
Glaucoma 1A primary open angle juvenile-onset
Glaucoma normal tension susceptibility
Glioblastoma
Glioblastoma multiforme somatic
Glioma
Globozoospermia
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Glomerulopathy with fibronectin deposits 2
Glomerulosclerosis focal segmental 1
Glomerulosclerosis focal segmental 2
Glomerulosclerosis focal segmental 3
Glomuvenous malformations
Glucocorticoid deficiency 2
Glucocorticoid deficiency due to ACTH unresponsiveness
Glucose/galactose malabsorption
Glucosidase I deficiency
Glutamate formiminotransferase deficiency
Glutamine deficiency congenital
Glutaricaciduria type I
Glutaricaciduria type IIA
Glutaricaciduria type IIB
Glutaricaciduria type IIC
Glutathione synthetase deficiency
Glycerol kinase deficiency
Glycerol release during exercise defective
Glycine encephalopathy
Glycine N-methyltransferase deficiency
Glycogen storage disease 0 muscle
Glycogen storage disease I
Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease II
Glycogen storage disease IIb
Glycogen storage disease IIIa
Glycogen storage disease IV
Glycogen storage disease type 0
Glycogen storage disease VI
Glycogen storage disease VII
Glycogenosis X-linked hepatic type I
Glycoprotein Ia deficiency
Glyoxalase II deficiency
GM1-gangliosidosis type I
GM2-gangliosidosis AB variant
Goldberg-Shprintzen megacolon syndrome
Gonadal dysgenesis 46XY partial with minifascicular neuropathy
Gonadal dysgenesis XY female type
Graft-versus-host disease protection against
Graves disease susceptibility to 3
Griscelli syndrome type 2
Growth hormone deficient dwarfism
Growth hormone insensitivity with immunodeficiency
Growth retardation with deafness and mental retardation due to IGF1 deficiency
Guttmacher syndrome
Gyrate atrophy of choroid and retina with ornithinemia B6 responsive or unresponsive
H. pylori infection susceptibility
Hailey-Hailey disease
Hair morphology 1 hair thickness
Hangover susceptibility
HARP syndrome
Heart block progressive familial type IB
Hemangioma capillary infantile
Hemangioma capillary infantile somatic
Hemangioma capillary infantile susceptibility
Hemochromatosis juvenile
Hemochromatosis type 2A
Hemochromatosis type 3
Hemochromatosis type 4
Hemolytic anemia due to adenylate kinase deficiency
Hemolytic anemia due to bisphosphoglycerate mutase deficiency
Hemolytic anemia due to glucosephosphate isomerase deficiency
Hemolytic anemia due to glutathione reductase deficiency
Hemolytic anemia due to hexokinase deficiency
Hemolytic anemia due to phosphofructokinase deficiency
Hemophagocytic lymphohistiocytosis familial
Hemophagocytic lymphohistiocytosis familial 2
Hemophagocytic lymphohistiocytosis familial 3
Hemophagocytic lymphohistiocytosis familial 4
Hemophilia A
Hemophilia B
Hepatic failure early onset and neurologic disorder
Hepatitis B virus susceptibility
Hepatocellular cancer
Hepatocellular carcinoma
Hereditary hemorrhagic telangiectasia-1
Hereditary hemorrhagic telangiectasia-2
Hereditary persistence of alpha-fetoprotein
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome 3
Hermansky-pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Herpes simplex encephalitis UNC93B-deficient
Heterotaxy visceral 4 autosomal
Heterotaxy X-linked visceral
HFE hemochromatosis modifier
High density lipoprotein cholesterol level QTL 11
High density lipoprotein cholesterol level QTL 12
High density lipoprotein cholesterol level QTL 8
High density lipoprotein cholesterol level QTL 9
High molecular weight kininogen deficiency
Hip dysplasia Beukes type
Histidinemia
Histiocytoma angiomatoid fibrous somatic
HIV infection susceptibility/resistance
HIV-1 disease delayed progression of
HMG-CoA lyase deficiency
HMG-CoA synthase-2 deficiency
Holocarboxylase synthetase deficiency
Holoprosencephaly-2
Holt-Oram syndrome
Homocysteine plasma level
Homocystinuria cblD type variant 1
HPRT-related gout
Humoral hypercalcemia of malignancy
Huntington disease
Huntington disease-like 2
Hydatidiform mole
Hydrolethalus syndrome
Hyperapobetalipoproteinemia susceptibility
Hypercalciuria absorptive
Hypercalciuria absorptive susceptibility
Hypercarotenemia and vitamin A deficiency autosomal dominant
Hypercholanemia familial
Hypercholesterolemia due to ligand-defective apo B
Hypercholesterolemia familial
Hypercholesterolemia familial autosomal recessive
Hypercholesterolemia familial due to LDLR defect modifier
Hypercholesterolemia susceptibility
Hyperekplexia
Hyperekplexia and epilepsy
Hyperekplexia autosomal recessive
Hyper-IgD syndrome
Hyper-IgE syndrome
Hyperimmunoglobulin E recurrent infection syndrome
Hyperinsulinism-hyperammonemia syndrome
Hyperleucinemia-isoleucinemia or hypervalinemia
Hyperlipidemia familial combined susceptibility
Hyperlipoproteinemia type Ib
Hyperlysinemia
Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
Hyperoxaluria primary type 1
Hyperoxaluria primary type II
Hyperphenylalaninemia BH4-deficient A
Hyperphenylalaninemia BH4-deficient C
Hyperphenylalaninemia BH4-deficient D
Hyperpigmentation cutaneous with hypertrichosis hepatosplenomegaly heart anomalies hearing loss and hypogonadism
Hyperproglucagonemia
Hyperprolinemia type II
Hypertension diastolic resistance
Hypertension essential
Hypertension essential salt-sensitive
Hypertension essential susceptibility
Hypertension salt-resistant
Hypertension salt-sensitive essential susceptibility
Hypertension susceptibility
Hypertrichosis congenital generalized
Hypertriglyceridemia susceptibility
Hypervalinemia or hyperleucine-isoleucinemia
Hypocalcemia autosomal dominant
Hypoceruloplasminemia hereditary
Hypoglobulinemia and absent B cells
Hypogonadism hypogonadotropic
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism due to GNRH deficiency
Hypokalemic periodic paralysis
Hypomagnesemia 4 renal
Hypomagnesemia primary
Hypomagnesemia renal with ocular involvement
Hypoparathyroidism autosomal dominant
Hypoparathyroidism sensorineural deafness and renal dysplasia
Hypoparathyroidism X-linked
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypophosphatemia X-linked
Hypophosphatemic rickets AR
Hypophosphatemic rickets with hypercalciuria
Hypoproteinemia hypercatabolic
Hypospadias 2 X-linked
Hypothryoidism congenital nongoitrous 4
Hypothyroidism congenital
Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia
Hypotrichosis simplex contiguous gene syndrome with
Hypotrichosis simplex of scalp
Hypotrichosis total Mari type
Hypouricemia renal
Ichthyosiform erythroderma congenital nonbullous 1
Ichthyosis bullosa of Siemens
Ichthyosis congenital autosomal recessive
Ichthyosis harlequin
Ichthyosis lamellar 3
Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis
Ichthyosis with hypotrichosis
Ichthyosis X-linked
ICOS deficiency
IgA nephropathy susceptibility
IgE elevated level
IgE levels QTL
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immunodeficiency due to defect in CD3-gamma
Immunodeficiency due to defect in CD3-zeta
Immunodeficiency due to defect in MAPBP-interacting protein
Immunodeficiency hypogammaglobulinemia and reduced B cells
Immunodeficiency with hyper IgM type 4
Immunodeficiency with hyper-IgM type 2
Immunodeficiency X-linked with hyper-IgM
Immunodeficiency-centromeric instability-facial anomalies syndrome
IMPDH2 enzyme activity variation in
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Inclusion body myopathy-3
Inflammatory bowel disease 10 susceptibility
Inflammatory bowel disease 14 susceptibility
Inflammatory bowel disease-2
Inflammatory response modulation
Inosine triphosphatase deficiency
Insensitivity to pain congenital with anhidrosis
Insulin resistance severe digenic
Insulin resistance susceptibility
Insulin-like growth factor I resistance
Interferon alpha deficiency
Intervertebral disc disease susceptibility
Intrinsic factor deficiency
Invasive pneumococcal disease recurrent isolated 1
Iron deficiency anemia susceptibility
Iron overload autosomal dominant
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Jacobsen syndrome
Jalili syndrome
Jervell and Lange-Nielsen syndrome 2
Johanson-Blizzard syndrome
Joubert syndrome
Joubert syndrome 7
Joubert syndrome 9
Joubert syndrome-3
Kallikrein decreased urinary activity
Kallmann syndrome
Kallmann syndrome 3
Kallmann syndrome 6
Karak syndrome
Kawasaki disease susceptibility
Keratosis follicularis spinulosa decalvans
Kindler syndrome
Knobloch syndrome type 1
Krabbe disease
L-2-hydroxyglutaric aciduria
Lactase deficiency congenital
Lactase persistance/nonpersistance
Lactate dehydrogenase-B deficiency
Lactic acidosis fatal infantile
Lacticacidemia due to PDX1 deficiency
Langer-Giedion syndrome
Laryngeal adductor paralysis
Lathosterolosis
Leanness inherited
Leber congenital amaurosis 13
Leber congenital amaurosis 5
Left ventricular noncompaction with congenital heart defects
Left-right axis malformations
Legionaire disease susceptibility
Leigh syndrome
Leigh syndrome due to COX deficiency
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome French-Canadian type
Leiomyomatosis diffuse with Alport syndrome
Leprosy protection against
Leprosy susceptibility to 4
Lethal congenital contractural syndrome 2
Lethal congenital contractural syndrome 3
Leukemia acute lymphoblastic
Leukemia acute lymphoblastic susceptibility
Leukemia acute lymphocytic
Leukemia acute myeloblastic
Leukemia acute myeloid
Leukemia acute myeloid somatic
Leukemia acute myeloid with eosinophilia
Leukemia acute myelomonocytic
Leukemia acute nonlymphocytic
Leukemia acute pre-B-cell
Leukemia acute promyelocytic
Leukemia acute promyelocytic NUMA/RARA type
Leukemia acute promyelocytic PML/RARA type
Leukemia acute T-cell
Leukemia acute T-cell lymphoblastic
Leukemia chronic lymphocytic susceptibility to 2
Leukemia lymphycytic acute T-cell
Leukemia myeloid/lymphoid or mixed-lineage
Leukemia Philadelphia chromosome-positive resistant to imatinib
Leukemia T-cell acute lymphoblastic
Leukemia T-cell acute lymphoblastoid
Leukemia T-cell acute lymphocytic
Leukemia transient of Down syndrome
Leukemia/lymphoma B-cell
Leukemia/lymphoma T-cell
Leukemia-1 T-cell acute lymphocytic
Leukemia-2 T-cell acute lymphoblastic
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency type III
Leukodystrophy adult-onset autosomal dominant
Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia
Leukodystrophy hypolyelinating 5
Leukoencephalopathy with dystonia and motor neuropathy
Leukoencephalopathy with vanishing white matter
Leukotriene C4 synthase deficiency
Lipase deficiency combined
Lipodystrophy congenital generalized type 1
Lipodystrophy congenital generalized type 3
Lipodystrophy partial acquired
Lipoid adrenal hyperplasia
Lipoid proteinosis
Lipoma
Lissencephaly syndrome Norman-Roberts type
Liver fibrosis susceptibility
Loeys-Dietz syndrome type 1A
Long QT syndrome-10
Long QT syndrome-11
Longevity susceptibility
Low density lipoprotein cholesterol level QTL 1
Low renin hypertension susceptibility
LPA deficiency congenital
Lumbar disc degeneration
Lumbar disc disease susceptibility
Lumbar disc herniation susceptibility
Lung cancer
Lung cancer resistance to
Lung cancer somatic
Lung cancer susceptibility 2
Lupus nephritis susceptibility
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
Lymphocytic leukemia acute T-cell
Lymphoma B-cell
Lymphoma/leukemia B-cell variant
Lymphoplasmacytoid lymphoma
Lymphoproliferative syndrome X-linked
Lymphoproliferative syndrome X-linked 2
Lysinuric protein intolerance
Lysosomal acid phosphatase deficiency
Lysyl hydroxylase 3 deficiency
Machado-Joseph disease
Macular corneal dystrophy
Macular degeneration age-related 4
Macular degeneration age-related 7
Macular degeneration age-related 9
Macular degeneration age-related reduced risk
Macular dystrophy 2 Bull's eye
Major affective disorder-7 susceptibility
Major depressive disorder and accelerated response to antidepressant drug treatment
Malaria cerebral susceptibility
Malaria mild susceptibility
Malaria resistance
Male infertility
Male infertility with large-headed multiflagellar polyploid spermatozoa
Malignant fibrous histiocytoma
Malignant hyperthermia susceptibility 5
Malignant melanoma cutaneous
Malonyl-CoA decarboxylase deficiency
MALT lymphoma
Mannosidosis alpha- types I and II
Mannosidosis beta
Maple syrup urine disease type Ia
Maple syrup urine disease type Ib
Maple syrup urine disease type II
Marinesco-Sjogren syndrome
Maroteaux-Lamy syndrome several forms
Martsolf syndrome
MASP2 deficiency
Maturity-onset diabetes of the young type VII
Maturity-onset diabetes of the young type VIII
McArdle disease
McLeod syndrome
Measles susceptibility
Medulloblastoma
Medulloblastoma desmoplastic
Meesmann corneal dystrophy
Megakaryoblastic leukemia acute
Megalencephalic leukoencephalopathy with subcortical cysts
Melanoma
Meleda disease
Memory enhanced association with
Mental retardation autosomal dominant
Mental retardation autosomal dominant 1
Mental retardation autosomal dominant 3
Mental retardation autosomal dominant 5
Mental retardation autosomal recessive
Mental retardation autosomal recessive 1
Mental retardation autosomal recessive 2A
Mental retardation autosomal recessive 3
Mental retardation autosomal recessive 6
Mental retardation autosomal recessive 7
Mental retardation FRA12A type
Mental retardation in cri-du-chat syndrome
Mental retardation joint hypermobility and skin laxity with or without metabolic abnormalities
Mental retardation syndrome X-linked Cabezas type
Mental retardation syndrome X-linked Lubs type
Mental retardation syndrome X-linked Siderius type
Mental retardation X-linked
Mental retardation X-linked 30
Mental retardation X-linked 45
Mental retardation X-linked 58
Mental retardation X-linked 59
Mental retardation X-linked 93
Mental retardation X-linked 94
Mental retardation X-linked 95
Mental retardation X-linked FRAXE type
Mental retardation X-linked nonspecific
Mental retardation X-linked nonspecific type 46
Mental retardation X-linked Snyder-Robinson type
Mental retardation X-linked South African type
Mental retardation X-linked syndromic
Mental retardation X-linked syndromic 14
Mental retardation X-linked syndromic Christianson type
Mental retardation X-linked syndromic JARID1C-related
Mental retardation X-linked syndromic Turner type
Mental retardation X-linked syndromic-4 with congenital contractures and low fingertip arches
Mental retardation X-linked with epilepsy
Mental retardation X-linked ZDHHC9-related
Mental retardation X-linked-88
Mental retardation X-linked-89
Mental retardation X-linked-9
Mental retardation X-linked-90
Mental retardation X-linked-91
Mesomelic dysplasia Kantaputra type
Metabolic syndrome protection against
Metachromatic leukodystrophy
Metastasis efficiency modification of
Methemoglobinemia due to cytochrome b5 deficiency
Methemoglobinemia type I
Methylmalonate semialdehyde dehydrogenase deficiency
Methylmalonic aciduria and homocystinuria cblC type
Methylmalonic aciduria and homocystinuria cblF type
Methylmalonic aciduria mut0 type
Methylmalonic aciduria vitamin B12-responsive
Methylmalonic aciduria vitamin B12-responsive due to defect in synthesis of adenosylcobalamin cblB complementation type
Methylmalonyl-CoA epimerase deficiency
MHC class II deficiency complementation group B
Micochondrial phosphate carrier deficiency
Microcephaly primary autosomal recessive 3
Microcephaly primary autosomal recessive 5 with or without simplified gyral pattern
Microcephaly primary autosomal recessive 6
Microcephaly primary autosomal recessive 7
Microphthalmia isolated 3
Microphthalmia isolated with cataract 2
Microphthalmia posterior with retinitis pigmentosa foveoschisis and optic disc drusen
Microphthalmia syndromic 2
Microphthalmia syndromic 5
Microphthalmia syndromic 7
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microtia hearing impairment and cleft palate
Microvascular complications of diabetes 1
Microvascular complications of diabetes 2
Microvascular complications of diabetes susceptibility to 6
Microvillus inclusion disease
Miller-Dieker lissencephaly
Mirror-image polydactyly
Mitochondrial complex 1 deficiency
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial complex IV deficiency
Mitochondrial DNA depletion syndrome enceophalomyopathic form with methylmalonic aciduria
Mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome hepatocerebral form
Mitochondrial DNA depletion syndrome myopathic form
Mitochondrial DNA-depletion syndrome hepatocerebral form
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitral valve prolapse myxomatous
Miyoshi myopathy
Moebius syndrome
Molybdenum cofactor deficiency type A
Molybdenum cofactor deficiency type B
Monilethrix
Mowat-Wilson syndrome
Mucoepidermoid salivary gland carcinoma
Mucolipidosis II alpha/beta
Mucolipidosis III gamma
Mucolipidosis IV
Mucopolysaccharidosis Ih
Mucopolysaccharidosis II
Mucopolysaccharidosis IVA
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type IX
Mucopolysaccharidosis VII
Mulibrey nanism
Multiple endocrine neoplasia type IV
Multiple myeloma
Multiple myeloma resistance
Multiple pterygium syndrome lethal type
Multiple sclerosis susceptibility
Multiple sclerosis susceptibility to 2
Multiple sulfatase deficiency
Muscle glycogenosis
Muscle hypertrophy
Muscle-eye-brain disease
Muscular dystrophy limb-girdle type 1A
Muscular dystrophy limb-girdle type 2A
Muscular dystrophy limb-girdle type 2E
Myasthenia limb-girdle familial
Myasthenic syndrome congenital associated with acetylcholine receptor deficiency
Myasthenic syndrome congenital associated with episodic apnea
Mycobacterial and salmonella infections susceptibility
Mycobacterial infection atypical familial disseminated
Mycobacterium tuberculosis susceptibility
Myelodysplastic syndrome
Myeloid leukemia acute M4Eo subtype
Myeloid malignancy predisposition
Myeloproliferative disorder
Myeloproliferative disorder with eosinophilia
Myoadenylate deaminase deficiency
Myocardial infarcation susceptibility
Myocardial infarction susceptibility
Myocardial infarction decreased susceptibility
Myoglobinuria acute recurrent autosomal recessive
Myopathy actin congenital with cores
Myopathy centronuclear autosomal recessive
Myopathy congenital
Myopathy congenital Compton-North
Myopathy due to phosphoglycerate mutase deficiency
Myopathy with exercise intolerance Swedish type
Myopathy X-linked with excessive autophagy
Myotonia congenita dominant
Myotonic dystrophy type 2
Myotubular myopathy X-linked
Myxoid liposarcoma
N syndrome
N-acetylglutamate synthase deficiency
Nail-patella syndrome
Nance-Horan syndrome
Narcolepsy 1
Nasu-Hakola disease
Natural teeth remaining intact
Nemaline myopathy 2 autosomal recessive
Nemaline myopathy 7
Nemaline myopathy Amish type
Nephrolithiasis uric acid susceptibility to
Nephrolithiasis/osteoporosis hypophosphatemic 1
Nephrolithiasis/osteoporosis hypophosphatemic 2
Nephronophthisis
Nephronophthisis 2 infantile
Nephronophthisis 7
Nephrotic syndrome steroid-resistant autosomal recessive
Nephrotic syndrome type 3
Neural tube defects folate-sensitive susceptibility
Neural tube defects susceptibility
Neuroblastoma
Neuroblastoma susceptibility
Neurofibromatosis type 1-like syndrome
Neuronopathy distal hereditary motor type VI
Neuropathy distal hereditary motor type IIA
Neuropathy distal hereditary motor type IIB
Neuropathy distal hereditary motor type V
Neuropathy distal hereditary motor type VIIB
Neuropathy hereditary sensory and autonomic type 1
Neuropathy hereditary sensory and autonomic type II
Neuropathy hereditary sensory and autonomic type V
Neuropathy hereditary sensory with spastic paraplegia
Neuropathy paraneoplastic sensory
Neuropathy recurrent with pressure palsies
Neutral endopeptidase deficiency
Neutral lipid storage disease with myopathy
Neutropenia alloimmune neonatal
Neutropenia congenital
Neutropenia nonimmune chronic idiopathic of adults
Neutropenia severe congenital autosomal recessive 3
Neutropenia severe congenital autosomal recessive 4
Nevo syndrome
Nevus epidermal
Nevus epidermal epidermolytic hyperkeratotic type
Nevus keratinocytic nonepidermolytic
Newfoundland rod-cone dystrophy
Nicotine addiction susceptibility
Nicotine dependence protection against
Niemann-Pick disease type A
Niemann-Pick disease type C1
Niemann-pick disease type C2
Night blindness congenital stationary
Night blindness congenital stationary type 1
Night blindness congenital stationary type 2B
Night blindness congenital stationary type 3
Night blindness congenital stationery rhodopsin-related
Nonaka myopathy
Noncompaction of left ventricular myocardium isolated
Non-Hodgkin lymphoma somatic
Nonsmall cell lung cancer
Nonsmall cell lung cancer response to tyrosine kinase inhibitor
Nonsmall cell lung cancer somatic
Noonan syndrome 1
Noonan syndrome 3
Noonan syndrome 5
Norrie disease
Norum disease
Nucleoside phosphorylase deficiency immunodeficiency
Nystagmus 1 congenital X-linked
Obesity adrenal insufficiency and red hair due to POMC deficiency
Obesity associated
Obesity association
Obesity autosomal dominant
Obesity hyperphagia and developmental delay
Obesity mild early-onset
Obesity morbid with hypogonadism
Obesity severe
Obesity severe and type II diabetes
Obesity severe susceptibility to BMIQ9
Obesity susceptibility
Obesity susceptibility to BMIQ11
Obesity susceptibility to BMIQ4
Obesity susceptibility to BMIQ9
Obesity variation in
Obesity with impaired prohormone processing
Obsessive-compulsive disorder 1
Ocular albinism Nettleship-Falls type
Oculocutaneous albinism type IV
Oculodentodigital dysplasia
Oculopharyngeal muscular dystrophy
Odontohypophosphatasia
Odontoonychodermal dysplasia
Oguchi disease-1
Oguchi disease-2
OI type II
Oligodendroglioma
Oligodontia-colorectal cancer syndrome
Omenn syndrome
Opitz G syndrome type I
Opitz-Kaveggia syndrome
Opremazole poor metagolizer
Optic atrophy 1
Optic atrophy and cataract
Optic nerve hypoplasia
Optic nerve hypoplasia and abnormalities of the central nervous system
Oral-facial-digital syndrome 1
Orofacial cleft
Orofacial cleft 11
Orofacial cleft 5
Orofacial cleft 6
Orofacial cleft 8
Oroticaciduria
Orthostatic intolerance
Osseous heteroplasia progressive
Ossification of posterior longitudinal ligament of spine
Osteoarthritis susceptibility 1
Osteoarthritis susceptibility 4
Osteoarthritis with mild chondrodysplasia
Osteogenesis imperfecta 3 clinical forms 166200 166210
Osteogenesis imperfecta type IIB
Osteogenesis imperfecta type VIII
Osteoglophonic dysplasia
Osteomalacia tumor-induced
Osteopetrosis AD type I
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 3 with renal tubular acidosis
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 5
Osteopetrosis autosomal recessive 6
Osteopetrosis recessive 1
Osteoporosis
Osteoporosis involutional
Osteoporosis postmenopausal susceptibility
Osteoporosis susceptibility
Osteosarcoma
Osteosarcoma somatic
Otofaciocervical syndrome
Otopalatodigital syndrome type I
Otospondylomegaepiphyseal dysplasia
Ovalocytosis
Ovarian cancer
Ovarian cancer somatic
Ovarian carcinoma
Ovarian dysgenesis 1
Ovarian failure premature
Ovarioleukodystrophy
Overgrowth syndrome
Pachyonychia congenita Jackson-Lawler type
Pachyonychia congenita Jadassohn-Lewandowsky type
Paget disease juvenile
Paget disease of bone
Pallister-Hall syndrome
Palmoplantar hyperkeratosis and true hermaphroditism
Panbronchiolitis diffuse
Pancreatic agenesis
Pancreatic cancer
Pancreatic cancer somatic
Pancreatic cancer sporadic
Pancreatic cancer susceptibility to 1
Pancreatic cancer/melanoma syndrome
Pancreatic carcinoma somatic
Pancreatic lipase deficiency
Pancreatitis hereditary
Panhypopituitarism X-linked
Panic disorder susceptibility
Papillon-Lefevre syndrome
Paraganglioma and gastric stromal sarcoma
Parathyroid adenoma somatic
Parathyroid adenoma with cystic changes
Parietal foramina 1
Parkes Weber syndrome
Parkinson disease
Parkinson disease 11
Parkinson disease 13
Parkinson disease 15 autosomal recessive
Parkinson disease 6 early onset
Parkinson disease 7 autosomal recessive early-onset
Parkinson disease 9
Parkinson disease familial
Parkinson disease juvenile type 2
Parkinson disease resistance
Parkinson disease susceptibility
Parkinson disease-8
Paroxysmal exertion-induced dyskinesia and hemolytic anemia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nonkinesigenic dyskinesia
PCWH
Pelger-Huet anomaly
Pelizaeus-Merzbacher disease
Pendred syndrome
PEPCK deficiency mitochondrial
Periodic fever familial
Periventricular heterotopia with microcephaly
Peroxisomal acyl-CoA oxidase deficiency
Peroxisomal biogenesis disorder complementation group
Peroxisome biogenesis factor
Persistent Mullerian duct syndrome type I
Persistent Mullerian duct syndrome type II
Peters anomaly
Peters-plus syndrome
Pfeiffer syndrome
Phenylketonuria
Phenylthiocarbamide tasting
Pheochromocytoma
Pheochromocytoma modifier
Phosphoglycerate dehydrogenase deficiency
Phosphoglycerate kinase 1 deficiency
Phospholipase A2 group IV A deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Phosphorylase kinase deficiency of liver and muscle autosomal recessive
Phosphoserine aminotransferase deficiency
Phosphoserine phosphatase deficiency
Pick disease
Piebaldism
Pigmented adrenocortical disease primary 1
Pigmented nodular adrenocortical disease primary
Pigmented nodular adrenocortical disease primary 2
Pigmented paravenous chorioretinal atrophy
Pitt-Hopkins syndrome
Pituitary ACTH-secreting adenoma
Pituitary adenoma ACTH-secreting
Pituitary adenoma nonfunctioning
Pituitary anomalies with holoprosencephaly-like features
Pituitary hormone deficiency combined
Pituitary hormone deficiency combined HESX1-related
Pituitary hormone deficiency combined with rigid cervical spine
Pituitary tumor invasive
Placental lactogen deficiency
Plamoplantar keratoderma epidermolytic
Plasmin inhibitor deficiency
Plasminogen Tochigi disease
Platelet alpha/delta storage pool deficiency
Platelet disorder familial with associated myeloid malignancy
Platelet PLC beta-2 deficiency
Platelet-activating factor acetylhydrolase deficiency
Pneumothorax primary spontaneous
Polio susceptibility to
Polycystic kidney and hepatic disease
Polycystic kidney disease adult type I
Polycystic kidney disease adult type II
Polycystic liver disease
Polycystic ovary syndrome
Polycythemia vera
Polydactyly preaxial type II
Polymicrogyria asymmetric
Polymicrogyria bilateral occipital
Polymicrogyria bilateral perisylvian
Polyposis syndrome hereditary mixed 2
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2C
Pontocerebellar hypoplasia type 6
POR deficiency
Porencephaly
Porokeratosis disseminated superficial actinic 1
Porphyria acute hepatic
Porphyria acute intermittent
Porphyria congenital erythropoietic
Porphyria cutanea tarda
Porphyria variegata
Prader-Willi syndrome
Precocious puberty central
Preeclampsia susceptibility
Preeclampsia/eclampsia
Premature chromatid separation trait
Premature chromosome condensation with microcephaly and mental retardation
Premature ovarian failure
Premature ovarian failure 2B
Premature ovarian failure 3
Premature ovarian failure 6
Preterm premature rupture of the membranes susceptibility
Primary lateral sclerosis juvenile
Prinzmetal angina
Prion disease with protracted course
Progressive external ophthalmoplegia autosomal dominant with or without hypogonadiam
Progressive external ophthalmoplegia with mitochondrial DNA deletions
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 4
Prolidase deficiency
Properdin deficiency X-linked
Propionicacidemia
Prostate adenocarcinoma
Prostate cancer 1 176807
Prostate cancer hereditary
Prostate cancer hereditary 11
Prostate cancer hereditary 12
Prostate cancer hereditary 13
Prostate cancer progression and metastasis
Prostate cancer progression
Prostate cancer somatic
Prostate cancer susceptibility
Prostate cancer susceptibility to 3
Protein-tyrosine kinase 2 deficiency
Proteinuria low molecular weight with hypercalciuric nephrocalcinosis
Protoporphyria erythropoietic autosomal dominant
Protoporphyria erythropoietic X-linked dominant
Pseudarthrosis tibial in NF1
Pseudoachondroplasia
Pseudohermaphroditism female due to placental aromatase deficiency
Pseudohermaphroditism male with gynecomastia
Pseudohypoaldosteronism type I
Pseudohypoaldosteronism type I autosomal dominant
Pseudohypoaldosteronism type II
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum modifier of severity
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Pseudo-Zellweger syndrome
Psoriasis early onset susceptibility
Psoriasis susceptibility
Ptosis congenital
Pulmonary alveolar microlithiasis
Pulmonary disease chronic obstructive severe early-onset
Pulmonary disease chronic obstructive susceptibility
Pulmonary hypertension familial persistent of the newborn
Pulmonary hypertension familial primary
Pycnodysostosis
Pyloric stenosis infantile hypertrophic 1 susceptibility
Pyogenic bacterial infections recurrent due to MYD88 deficiency
Pyogenic sterile arthritis pyoderma gangrenosum and acne
Pyridoxamine 5'-phosphate oxidase deficiency
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
QT interval modifier
Rabson-Mendenhall syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia
Ragweed sensitivity
RAPADILINO syndrome
Recombination rate QTL 1
Reduced triglycerides susceptibility
Refsum disease
Refsum disease infantile
Refsum disease infantile form
Renal adysplasia
Renal cell carcinoma
Renal cell carcinoma clear cell somatic
Renal cell carcinoma papillary 1
Renal cell carcinoma papillary familial and sporadic
Renal glucosuria
Renal tubular acidosis distal autosomal recessive
Renal tubular acidosis proximal with ocular abnormalities
Renal tubular acidosis with deafness
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst
Renpenning syndrome
Response to morphine-6-glucuronide
Restless legs syndrome susceptibility to 6
Restrictive dermopathy lethal
Retinal cone dystrophy 3
Retinal cone dystrophy 4
Retinal cone dystrophy-1
Retinal degeneration autosomal recessive clumped pigment type
Retinal dystrophy early-onset severe
Retinitis pigmentosa digenic
Retinitis pigmentosa juvenile
Retinitis pigmentosa juvenile autosomal recessive
Retinitis pigmentosa late-onset dominant
Retinitis pigmentosa X-linked and sinorespiratory infections with or without deafness
Retinitis pigmentosa-1
Retinitis pigmentosa-10
Retinitis pigmentosa-11
Retinitis pigmentosa-13
Retinitis pigmentosa-14
Retinitis pigmentosa-17
Retinitis pigmentosa-18
Retinitis pigmentosa-20
Retinitis pigmentosa-30
Retinitis pigmentosa-31
Retinitis pigmentosa-35
Retinitis pigmentosa-37
Retinitis pigmentosa-38
Retinitis pigmentosa-41
Retinitis pigmentosa-43
Retinitis pigmentosa-44
Retinitis pigmentosa-46
Retinitis pigmentosa-48
Retinitis pigmentosa-7 digenic
Retinitis pigmentosa-9
Retinol binding protein deficiency
Retinopathy of prematurity
Rett syndrome
Rett syndrome congenital variant
Revesz syndrome
Rhabdoid predisposition syndrome familial
Rhabdomyolysis cerivastatin-induced
Rhabdomyosarcoma
Rhabdomyosarcoma alveolar
Rheumatoid arthritis association
Rheumatoid arthritis susceptibility
Rheumatoid arthritis systemic juvenile susceptibility
Rh-mod syndrome
Rh-negative blood type
Rh-null disease amorph type
Ribose 5-phosphate isomerase deficiency
Rickets due to defect in vitamin D 25-hydroxylation
RIDDLE syndrome
Rieger or Axenfeld anomalies
Rieger syndrome type
Ring dermoid of cornea
Rippling muscle disease
Rippling muscle disease-1
Robinow syndrome autosomal recessive
Rolandic epilepsy mental retardation and speech dyspraxia
Roussy-Levy syndrome
Rubenstein-Taybi syndrome
Rubinstein-Taybi syndrome
Saethre-Chotzen syndrome with eyelid anomalies
Salivary adenoma
Salla disease
Sandhoff disease infantile juvenile and adult forms
Sanfilippo syndrome type A
Sanfilippo syndrome type B
Sanfilippo syndrome type C
Sarcoidosis susceptibility to 2
Sarcoma synovial
Sarcosinemia
SARS infection protection against
SC phocomelia syndrome
Scapuloperoneal myopathy X-linked dominant
Scapuloperoneal syndrome myopathic type
Scapuloperoneal syndrome neurogenic Kaeser type
Schimke immunoosseous dysplasia
Schindler disease type I
Schizencephaly
Schizoaffective disorder susceptibility
Schizophrenia
Schizophrenia susceptibility
Schizophrenia susceptibility to 4
Schneckenbecken dysplasia
Schwannomatosis
Schwartz-Jampel syndrome type 1
SCID autosomal recessive T-negative/B-positive type
SCID due to LCK deficiency
Sclerosteosis
Scoliosis idiopathic
Scoliosis idiopathic 3
Sea-blue histiocyte disease
Sebaceous tumors somatic
Sebastian syndrome
Seborrhea-like dermatitis with psoriasiform elements
Seckel syndrome 1
Segawa syndrome recessive
Seizures afebrile
Self-healing collodion baby
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome-1
SERKAL syndrome
Sertoli-cell-only syndrome
SESAME syndrome
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency due to IL2 deficiency
Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive
Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation
Severe combined immunodeficiency X-linked
Sex reversal XY with/without adrenal failure
Sezary syndrome
Shah-Waardenburg syndrome
Short QT syndrome-1
Short QT syndrome-2
Short QT syndrome-3
Short stature
Short stature autosomal dominant with normal serum growth hormone binding protein
Short stature familial
Short stature idiopathic familial
Short stature pituitary and cerebellar defects and small sella turcica
Shprintzen-Goldberg syndrome
Shwachman-Bodian-Diamond syndrome
Sialidosis type I
Sick sinus syndrome 2
Sickle cell anemia
Silver-Russell syndrome
Simpson-Golabi-Behmel syndrome type
Simpson-Golabi-Behmel syndrome type 1
Sitosterolemia
Situs ambiguus
Sjogren-Larsson syndrome
Skeletal defects genital hypoplasia and mental retardation
Skin fragility-woolly hair syndrome
Skin/hair/eye pigmentation 1 blond/brown hair
Skin/hair/eye pigmentation 10 blond/brown hair
Skin/hair/eye pigmentation 6 blond/brown hair
Skin/hair/eye pigmentation 9 dark/light hair
Slowed nerve conduction velocity AD
Small patella syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Snowflake vitreoretinal degeneration
Solitary median maxillary central incisor
Sorsby fundus dystrophy
Sotos syndrome
Spastic ataxia Charlevoix-Saguenay type
Spastic paraplegia 10
Spastic paraplegia 15
Spastic paraplegia 31
Spastic paraplegia 33
Spastic paraplegia 39
Spastic paraplegia-11
Spastic paraplegia-3A
Spastic paraplegia-42
Spastic paraplegia-5A
Spastic paraplegia-6
Spastic paraplegia-7
Spastic paraplegia-8
Speech-language disorder-1
Spermatogenic failure susceptibility
Spherocytosis hereditary type 5
Spherocytosis type
Spherocytosis type 1
Spiegler-Brooke syndrome
Spinal and bulbar muscular atrophy of Kennedy
Spinal muscular atrophy distal autosomal recessive 4
Spinal muscular atrophy X-linked 2 infantile
Spinocerebellar ataxia
Spinocerebellar ataxia 12
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 4 pure Japanese type
Spinocerebellar ataxia 8
Spinocerebellar ataxia autosomal recessive
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive 9
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia infantile-onset with sensory neuropathy
Spinocerebellar ataxia-1
Spinocerebellar ataxia-10
Spinocerebellar ataxia-11
Spinocerebellar ataxia-2
Spinocerebellar ataxia-27
Spinocerebellar ataxia-4
Spinocerebellar ataxia-5
Split hand/foot malformation type
Split-hand/foot malformation
Spondylocheirodysplasia Ehlers-Danlos syndrome-like
Spondylocostal dysostosis autosomal recessive 1
Spondylocostal dysostosis autosomal recessive 2
Spondylocostal dysostosis autosomal recessive 3
Spondyloepimetaphyseal dysplasia aggrecan type
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepiphyseal dysplasia Omani type
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Spondylometaphyseal dysplasia Japanese type
Squamous cell carcinoma burn scar-related somatic
Squamous cell carcinoma head and neck
Stapes ankylosis with broad thumb and toes
STAR syndrome
Stargardt disease
Stargardt disease 3
Startle disease autosomal recessive
STAT1 deficiency complete
Statins attenuated cholesterol lowering by
Stature QTL 1
Stature QTL 9
Stem-cell leukemia/lymphoma syndrome
Stickler syndrome type II
Stocco dos Santos X-linked mental retardation syndrome
Stomatocytosis I
Stroke susceptibility
Stroke susceptibility to 1
Subcortical laminal heteropia X-linked
Subcortical laminar heterotopia
Succinic semialdehyde dehydrogenase deficiency
Succinyl CoA:3-oxoacid CoA transferase deficiency
Sucrase-isomaltase deficiency congenital
Sudden infant death with dysgenesis of the testes syndrome
Sulfite oxidase deficiency
Superoxide dismutase elevated extracellular
Supravalvar aortic stenosis
Surfactant metabolism dysfunction pulmonary 1
Surfactant metabolism dysfunction pulmonary 2
Surfactant metabolism dysfunction pulmonary 3
Sveinsson choreoretinal atrophy
Sweat chloride elevation without CF
Syndactyly type V
Synpolydactyly 3/3'4 associated with metacarpal and metatarsal synostoses
Systemic lupus erythematosus susceptibility
Systemic lupus erythematosus susceptibility to
Systemic lupus erythematosus susceptibility to 2 605218
Systemic lupus erythematosus susceptibility to 9
Systemic lupus erythematous association with susceptibility to 6
Systemic lupus erythmatosus association with
Tangier disease
Tay-Sachs disease
T-cell acute lymphoblastic leukemia
T-cell prolymphocytic leukemia sporadic
Tetra-amelia autosomal recessive
Tetralogy of Fallot
Tetrology of Fallot
Thalassemia due to Hb Lepore
Thiamine-responsive megaloblastic anemia syndrome
Thoracoabdominal syndrome
Thrombocythemia essential
Thrombocytopenia 4
Thrombocytopenia congenital amegakaryocytic
Thrombocytopenia neonatal alloimmune
Thrombocytopenia with beta-thalassemia X-linked
Thrombocytopenia X-linked
Thrombocytopenia-2
Thrombophilia due to excessive plasminogen activator inhibitor
Thrombophilia due to heparin cofactor II deficiency
Thrombophilia due to HRG deficiency
Thrombophilia due to protein C deficiency autosomal dominant
Thrombophilia due to protein S deficiency
Thrombophilia due to thrombomodulin defect
Thrombophilia dysfibrinogenemic
Thrombophilia familial due to decreased release of PLAT
Thrombosis hyperhomocysteinemic
Thrombotic thrombocytopenic purpura familial
Thromboxane synthase deficiency
Thyroid adenoma hyperfunctioning somatic
Thyroid carcinoma follicular
Thyroid carcinoma Hurthle cell
Thyroid carcinoma papillary
Thyroid hormone organification defect IIA
Thyroid hormone resistance
Thyroid hormonogenesis genetic defect in 4
Thyroid papillary carcinoma
Thyrotropin-releasing hormone deficiency
Thyrotropin-releasing hormone resistance generalized
Thyroxine-binding globulin deficiency
Tietz syndrome
Timothy syndrome
Tn syndrome
Tolbutamide poor metabolizer
Tooth agenesis selective 3
Tourette syndrome
Townes-Brocks branchiootorenal-like syndrome
Transaldolase deficiency
Transcobalamin II deficiency
Transient erythroblastopenia of childhood
Transposition of the great arteries dextro-looped 1
Treacher Collins mandibulofacial dysostosis
Trehalase deficiency
Tremor hereditary essential
Trichodontoosseous syndrome
Trichoepithelioma multiple familial 1
Trichorhinophalangeal syndrome type I
Trichothiodystrophy
Trichothiodystrophy complementation group A
Trichothiodystrophy nonphotosensitive 1
Trifunctional protein deficiency
Trimethylaminuria
Troyer syndrome
Tuberous sclerosis-1
Tuberous sclerosis-2
Tumoral calcinosis familial normophosphatemic
Tumoral calcinosis hyperphosphatemic familial
Tylosis with esophageal cancer
Tyrosinemia type I
Tyrosinemia type Ib
Tyrosinemia type II
Tyrosinemia type III
Ullrich congenital muscular dystrophy
Ulna and fibula absence of with sever limb deficiency
Ulnar-mammary syndrome
Unipolar depression susceptibility
Uric acid concentration serum QTL 2
Urolithiasis 28-dihydroxyadenine
Usher syndrome type 1B
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1G
Usher syndrome type 3
Usher syndrome type IIC
Usher syndrome type IID
UV-sensitive syndrome
Vasculopathy retinal with cerebral leukodystrophy
Velocardiofacial syndrome
Venous malformations multiple cutaneous and mucosal
Venous thrombosis susceptibility
Ventricular fibrillation idiopathic
Ventricular tachycardia catecholaminergic polymorphic 1
Ventricular tachycardia catecholaminergic polymorphic 2
Vertical talus congenital
Vesicoureteral reflux 2
Vitamin D-dependent rickets type I
Vitamin K-dependent clotting factors combined deficiency of 2
Vitelliform macular dystrophy adult-onset
VLCAD deficiency
Vohwinkel syndrome
Vohwinkel syndrome with ichthyosis
von Hippel-Lindau disease modification
von Willebrand disease autosomal dominant
von Willebrand disease platelet-type
Waardenburg syndrome/albinism digenic
Waardenburg-Shah syndrome
Wagner syndrome 1
WAGR syndrome
WAGRO syndrome
Walker-Warburg syndrome
Warburg micro syndrome 1
LMNA
Wegener-like granulomatosis
Weill-Marchesani syndrome recessive
Werner syndrome
Weyers acrodental dysostosis
WHIM syndrome
White sponge nevus
Williams-Beuren syndrome
Wilson disease
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
Wolfram syndrome
Wolfram syndrome 2
Wolman disease
Woodhouse-Sakati syndrome
Woolly hair autosomal recessive
Wrinkly skin syndrome
Xeroderma pigmentosum
Xeroderma pigmentosum group A
Xeroderma pigmentosum group C
Xeroderma pigmentosum group E DDB-negative subtype
Xeroderma pigmentosum group G
Xeroderma pigmentosum variant type
XFE progeroid syndrome
X-inactivation familial skewed
XY sex reversal
Zellweger syndrome
Zellweger syndrome complementation group
Zellweger syndrome complementation group G
Zellweger syndrome-2