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OMIM
GWAS
Disease
dengue
17,20-lyase deficiency, isolated
17-alpha-hydroxylase/17,20-lyase deficiency
17-beta-hydroxysteroid dehydrogenase x deficiency
2-aminoadipic 2-oxoadipic aciduria
2-methylbutyrylglycinuria
3-beta-hydroxysteroid dehydrogenase, type ii, deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
3-hydroxyisobutryl-coa hydrolase deficiency
3-m syndrome 1
3-m syndrome 2
3-methylcrotonyl-coa carboxylase 1 deficiency
3-methylcrotonyl-coa carboxylase 2 deficiency
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
3-methylglutaconic aciduria, type iii
3-methylglutaconic aciduria, type i
3-methylglutaconic aciduria, type v
3mc syndrome 1
3mc syndrome 2
3p- syndrome
3q21q26 syndrome
46xx sex reversal 1
46xx sex reversal 2
46xx sex reversal 3
46xy partial gonadal dysgenesis, with minifascicular neuropathy
46xy sex reversal 1
46xy sex reversal 2, dosage-sensitive
46xy sex reversal 3
46xy sex reversal 4
46xy sex reversal 5
46xy sex reversal 6
46xy sex reversal 7
46xy sex reversal 8, modifier of
46xy sex reversal 8
5-fluorouracil toxicity
5-oxoprolinase deficiency
6-mercaptopurine sensitivity
aarskog-scott syndrome
abacavir hypersensitivity, susceptibility to
abcd syndrome
abdominal obesity-metabolic syndrome
abetalipoproteinemia
abruptio placentae, susceptibility to
abruzzo-erickson syndrome
acad9 deficiency
acampomelic campomelic dysplasia
acat2 deficiency
acatalasemia
accelerated tumor formation, susceptibility to
acetyl-coa carboxylase deficiency
acetylation, slow
achalasia-addisonianism-alacrimia syndrome
acheiropody
achondrogenesis ib
achondrogenesis, type ia
achondrogenesis, type ii or hypochondrogenesis
achondroplasia
achromatopsia 6
achromatopsia-2
achromatopsia-3
achromatopsia-4
acid-labile subunit, deficiency of
acne inversa, familial, 1
acne inversa, familial, 2
acne inversa, familial, 3
acrocallosal syndrome
acrocapitofemoral dysplasia
acrodermatitis enteropathica
acrodysostosis 1, with or without hormone resistance
acrodysostosis 2, with or without hormone resistance
acrofacial dysostosis 1, nager type
acrokeratosis verruciformis
acromegaloid features, overgrowth, cleft palate, and hernia
acromegaly
acromesomelic dysplasia, hunter-thompson type
acromesomelic dysplasia, maroteaux type
acromicric dysplasia
acropectoral syndrome
acropectorovertebral dysplasia
acth-independent macronodular adrenal hyperplasia
activated pi3k-delta immunodeficiency syndrome
acute insulin response
acyl-coa dehydrogenase, medium chain, deficiency of
acyl-coa dehydrogenase, short-chain, deficiency of
adams-oliver syndrome 1
adams-oliver syndrome 2
adams-oliver syndrome 3
adams-oliver syndrome 4
adenine phosphoribosyltransferase deficiency
adenocarcinoma of lung, response to tyrosine kinase inhibitor in
adenocarcinoma of lung, somatic
adenocarcinoma, colonic, somatic
adenocarcinoma, ovarian, somatic
adenoma, periampullary, somatic
adenomas, multiple colorectal
adenomas, salivary gland pleomorphic
adenomatous polyposis coli
adenosine deaminase deficiency, partial
adenosine triphosphate, elevated, of erythrocytes
adenylosuccinase deficiency
adermatoglyphia
adiponectin deficiency
adiponectin, serum level of, qtl2
adiponectin, serum level of, qtl3
adiponectin, serum level of, qtl4
adiponectin, serum level of, qtl5
adrenal adenoma, somatic
adrenal cortical carcinoma
adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete
adrenocortical insufficiency
adrenocortical tumor, somatic,
adrenocorticotropic hormone deficiency
adrenoleukodystrophy
adrenomyeloneuropathy, adult
adult i phenotype without cataract
adult syndrome
advanced sleep phase syndrome, familial, 1
advanced sleep-phase syndrome, familial, 2
aerodigestive tract cancer, squamous cell, alcohol-related, protection against
afibrinogenemia, congenital
afp deficiency, congenital
agammaglobulinemia 1
agammaglobulinemia 2
agammaglobulinemia 3
agammaglobulinemia 4
agammaglobulinemia 5
agammaglobulinemia 6
agammaglobulinemia 7, autosomal recessive
agammaglobulinemia and isolated hormone deficiency
agammaglobulinemia, x-linked 1
agammaglobulinemia, x-linked 2
age-related hearing impairment 1
age-related hearing impairment 2
age-related maculopathy, susceptibility to
agenesis of the corpus callosum with peripheral neuropathy
agnathia-otocephaly complex
aica-ribosiduria due to atic deficiency
aicardi syndrome
aicardi-goutieres syndrome 1, dominant and recessive
aicardi-goutieres syndrome 2
aicardi-goutieres syndrome 3
aicardi-goutieres syndrome 4
aicardi-goutieres syndrome 5
aicardi-goutieres syndrome 6
aids, delayed/rapid progression to
aids, rapid progression to
aids, resistance to
aids, slow progression to
alacrima, achalasia, and mental retardation syndrome
alagille syndrome 2
alagille syndrome
aland island eye disease
alazami syndrome
albinism, brown oculocutaneous
albinism, oculocutaneous, type ia
albinism, oculocutaneous, type ib
albinism, oculocutaneous, type ii, modifier of
albinism, oculocutaneous, type iii
albinism, oculocutaneous, type ii
albinism, oculocutaneous, type iv
albinism, oculocutaneous, type v
albinism, oculocutaneous, type vii
albinism, oculocutaneous, type vi
albinism-deafness syndrome
alcohol dependence, protection against
alcohol dependence, susceptibility to
alcohol dependence
alcohol sensitivity, acute
aldosterone to renin ratio raised
aldosteronism, glucocorticoid-remediable
alexander disease
alkaline phosphatase, plasma level of, qtl 2
alkaline phosphatase, plasma level of, qtl1
alkaline phosphatase, plasma level of, qtl3
alkaline phosphatase, plasma level of, qtl4
alkaptonuria
allan-herndon-dudley syndrome
allergic rhinitis, susceptibility to
allergy and asthma susceptibility
alopecia areata 1
alopecia areata 2
alopecia universalis
alopecia, androgenetic
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alpha-1-antichymotrypsin deficiency
alpha-2-macroglobulin deficiency
alpha-2-plasmin inhibitor 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 1
alpha-thalassemia/mental retardation syndrome
alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity
alport syndrome, autosomal dominant
alport syndrome, autosomal recessive
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
alport syndrome
alstrom syndrome
alternating hemiplegia of childhood 2
alternating hemiplegia of childhood
alveolar capillary dysplasia with misalignment of pulmonary veins
alveolar soft-part sarcoma
alzheimer disease 1, familial
alzheimer disease 12
alzheimer disease 16
alzheimer disease 17
alzheimer disease 18, susceptibility to
alzheimer disease 6
alzheimer disease 8
alzheimer disease 9, late onset, susceptibility to
alzheimer disease, late-onset, susceptibility to
alzheimer disease, late-onset
alzheimer disease, pathogenesis, association with
alzheimer disease, susceptibility to
alzheimer disease, type 3, with spastic paraparesis and apraxia
alzheimer disease, type 3, with spastic paraparesis and unusual plaques
alzheimer disease, type 3
alzheimer disease-10
alzheimer disease-11
alzheimer disease-13
alzheimer disease-14
alzheimer disease-15
alzheimer disease-2
alzheimer disease-4
alzheimer disease-5
alzheimer disease-7
amelogenesis imperfecta and gingival fibromatosis syndrome
amelogenesis imperfecta, hypomaturation type, iia3
amelogenesis imperfecta, hypomaturation type, iia4
amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism
amelogenesis imperfecta, hypoplastic/hypomaturation type 1e
amelogenesis imperfecta, type 3
amelogenesis imperfecta, type ib
amelogenesis imperfecta, type ic
amelogenesis imperfecta, type iia1
amelogenesis imperfecta, type iia2
amelogenesis imperfecta-3, hypoplastic type
aminoacylase 1 deficiency
amish infantile epilepsy syndrome
amp deaminase deficiency, erythrocytic
amyloidosis, 3 or more types
amyloidosis, finnish type
amyloidosis, hereditary renal
amyloidosis, hereditary, transthyretin-related
amyloidosis, primary localized cutaneous, 1
amyloidosis, primary localized cutaneous, 2
amyloidosis, renal
amyloidosis, secondary, susceptibility to
amyotrophic lateral sclerosis 10, with or without ftd
amyotrophic lateral sclerosis 11
amyotrophic lateral sclerosis 12
amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
amyotrophic lateral sclerosis 16, juvenile
amyotrophic lateral sclerosis 17
amyotrophic lateral sclerosis 18
amyotrophic lateral sclerosis 19
amyotrophic lateral sclerosis 1
amyotrophic lateral sclerosis 2, juvenile
amyotrophic lateral sclerosis 20
amyotrophic lateral sclerosis 3
amyotrophic lateral sclerosis 4, juvenile
amyotrophic lateral sclerosis 5, juvenile recessive
amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia
amyotrophic lateral sclerosis 7
amyotrophic lateral sclerosis 8
amyotrophic lateral sclerosis 9
amyotrophic lateral sclerosis and/or frontotemporal dementia
amyotrophic lateral sclerosis, susceptibility to, 13
amyotrophic lateral sclerosis, susceptibility to
amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to
amyotrophy, hereditary neuralgic
anal canal carcinoma
analbuminemia
analgesia from kappa-opioid receptor agonist, female-specific
anauxetic dysplasia
andersen syndrome
androgen insensitivity, partial, with or without breast cancer
androgen insensitivity
anemia, hemolytic, due to umph1 deficiency
anemia, hemolytic, rh-null, regulator type
anemia, hypochromic microcytic, with iron overload 2
anemia, hypochromic microcytic
anemia, neonatal hemolytic, fatal and near-fatal
anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
anemia, sideroblastic, with ataxia
anemia, sideroblastic, x-linked
anemia, x-linked, with/without neutropenia and/or platelet abnormalities
aneurysm, familial abdominal 3
aneurysm, intracranial berry, 10
aneurysm, intracranial berry, 6
aneurysm, intracranial berry, 9
aneurysm, intracranial berry
aneurysmal bone cysts
angelman syndrome-like
angelman syndrome
angio serpiginosum
angioedema induced by ace inhibitors, susceptibility to
angioedema, hereditary, type iii
angioedema, hereditary, types i and ii
angiofibroma, somatic
angiopathy, hereditary, with nephropathy, aneurysms, and muscle
angiotensin i-converting enzyme, benign serum increase
anhaptoglobinemia
aniridia
anisomastia
anonychia congenita
anorexia nervosa, susceptibility to, 1
anorexia nervosa, susceptibility to
anosmia, isolated congenital
anterior segment anomalies with or without cataract
anterior segment mesenchymal dysgenesis
antiphospholipid syndrome, familial
antley-bixler syndrome with genital anomalies and disordered steroidogenesis
antley-bixler syndrome without genital anomalies or disordered steroidogenesis
anxiety-related personality traits
aortic aneurysm, ascending, and dissection
aortic aneurysm, familial abdominal 1
aortic aneurysm, familial abdominal 2
aortic aneurysm, familial abdominal
aortic aneurysm, familial thoracic 1
aortic aneurysm, familial thoracic 2
aortic aneurysm, familial thoracic 4
aortic aneurysm, familial thoracic 6
aortic aneurysm, familial thoracic 7
aortic aneurysm, familial thoracic 8
aortic valve disease 2
aortic valve disease
apert syndrome
aphakia, congenital primary
aphasia, primary progressive
aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies
aplasia of lacrimal and salivary glands
aplastic anemia
apnea, postanesthetic
apoa-i and apoc-iii deficiency, combined
apolipoprotein a-ii deficiency
apparent mineralocorticoid excess
aquaporin-1 deficiency
argininemia
argininosuccinic aciduria
aromatase deficiency
aromatase excess syndrome
aromatic l-amino acid decarboxylase deficiency
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
arrhythmogenic right ventricular dysplasia 11
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 2
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 6
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
arrhythmogenic right ventricular dysplasia, familial, 13
arterial calcification, generalized, of infancy, 1
arterial calcification, generalized, of infancy, 2
arterial tortuosity syndrome
arthrogryposis multiplex congenita, distal, type 1
arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis multiplex congenita, neurogenic
arthrogryposis, distal, type 10
arthrogryposis, distal, type 1b
arthrogryposis, distal, type 2a
arthrogryposis, distal, type 2b
arthrogryposis, distal, type 5d
arthrogryposis, distal, type 5
arthrogryposis, lethal, with anterior horn cell disease
arthrogryposis, mental retardation, and seizures
arthrogryposis, renal dysfunction, and cholestasis 1
arthrogryposis, renal dysfunction, and cholestasis 2
arthropathy, progressive pseudorheumatoid, of childhood
arthyrgryposis, distal, type 2b
arts syndrome
asparagine synthetase deficiency
aspartate aminotransferase, serum level of, qtl1
aspartylglucosaminuria
asperger syndrome susceptibility 1
asperger syndrome susceptibility 2
asperger syndrome susceptibility 3
asperger syndrome susceptibility 4
asperger syndrome susceptibility, x-linked 1
asperger syndrome susceptibility, x-linked 2
aspergillosis, susceptibility to
asplenia, isolated congenital
asthma and nasal polyps
asthma susceptibility 5
asthma, aspirin-induced, susceptibility to
asthma, diminished response to antileukotriene treatment in
asthma, nocturnal, susceptibility to
asthma, protection against
asthma, susceptibility to, 1
asthma, susceptibility to, 2
asthma, susceptibility to
asthma-related traits, susceptibility to, 3
asthma-related traits, susceptibility to, 4
asthma-related traits, susceptibility to, 6
asthma-related traits, susceptibility to, 7
asthma-related traits, susceptibility to, 8
asthma
ataxia with isolated vitamin e deficiency
ataxia, cerebellar, cayman type
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ataxia, posterior column, with retinitis pigmentosa
ataxia, sensory, 1, autosomal dominant
ataxia, spastic, 4
ataxia, spastic, 5, autosomal recessive
ataxia-ocular apraxia-2
ataxia-oculomotor apraxia 3
ataxia-telangiectasia-like disorder
ataxia-telangiectasia
atelosteogenesis ii
atelosteogenesis, type iii
atelosteogenesis, type i
athabaskan brainstem dysgenesis syndrome
atherosclerosis, susceptibility to
atopy, resistance to
atopy, susceptibility to
atopy
atransferrinemia
atrial fibrillation, familial, 10
atrial fibrillation, familial, 11
atrial fibrillation, familial, 12
atrial fibrillation, familial, 13
atrial fibrillation, familial, 14
atrial fibrillation, familial, 3
atrial fibrillation, familial, 4
atrial fibrillation, familial, 5
atrial fibrillation, familial, 6
atrial fibrillation, familial, 7
atrial fibrillation, familial, 9
atrial fibrillation, familial
atrial septal defect 1
atrial septal defect 2
atrial septal defect 3
atrial septal defect 4
atrial septal defect 5
atrial septal defect 6
atrial septal defect 7, with or without av conduction defects
atrial septal defect 8
atrial septal defect 9
atrial standstill, digenic
atrichia with papular lesions
atrioventricular septal defect 3
atrioventricular septal defect 4
atrioventricular septal defect 5
atrioventricular septal defect, partial, with heterotaxy syndrome
atrioventricular septal defect, susceptibility to, 1
atrioventricular septal defect, susceptibility to, 2
attention deficit-hyperactivity disorder, susceptibility to, 5
attention deficit-hyperactivity disorder, susceptibility to, 6
attention deficit-hyperactivity disorder, susceptibility to, 7
attention deficit-hyperactivity disorder, susceptibility to
attention deficit-hyperactivity disorder
atypical mycobacteriosis, familial, x-linked 2
atypical mycobacteriosis, familial
auditory neuropathy, autosomal dominant, 1
auditory neuropathy, autosomal recessive, 1
aural atresia, congenital
auriculocondylar syndrome 1
auriculocondylar syndrome 2
autism susceptibility 1
autism susceptibility 11
autism susceptibility 12
autism susceptibility 13
autism susceptibility 14a
autism susceptibility 15
autism susceptibility 16
autism susceptibility 17
autism susceptibility 3
autism susceptibility 4
autism susceptibility 5
autism susceptibility 6
autism susceptibility 7
autism susceptibility 8
autism susceptibility, x-linked 1
autism susceptibility, x-linked 2
autism susceptibility, x-linked 3
autism susceptibility, x-linked 4
autism, susceptibility to, 10
autism, susceptibility to, 14b
autism, susceptibility to, 18
autism, susceptibility to, 19
autism, susceptibility to, 9
autism, susceptibility to, x-linked 5
autoimmune disease, susceptibility to, 1
autoimmune disease, susceptibility to, 2
autoimmune disease, susceptibility to, 3
autoimmune disease, susceptibility to, 4
autoimmune disease, susceptibility to, 5
autoimmune disease, susceptibility to, 6
autoimmune disease, syndromic multisystem
autoimmune lymphoproliferative syndrome type iv
autoimmune lymphoproliferative syndrome, type ia
autoimmune lymphoproliferative syndrome, type ib
autoimmune lymphoproliferative syndrome, type ii
autoimmune lymphoproliferative syndrome
autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia
autoimmune thyroid disease, susceptibility to, 1
autoimmune thyroid disease, susceptibility to, 2
autoimmune thyroid disease, susceptibility to, 3
autoimmune thyroid disease, susceptibility to, 4
autoinflammation, antibody deficiency, and immune dysregulation syndrome
autoinflammation, lipodystrophy, and dermatosis syndrome
autonomic nervous system dysfunction
avascular necrosis of the femoral head
axenfeld-rieger syndrome, type 1
axenfeld-rieger syndrome, type 3
axillary odor, variation in
b-cell non-hodgkin lymphoma, high-grade
bacteremia, protection against
bacteremia, susceptibility to
bainbridge-ropers syndrome
baller-gerold syndrome
bamforth-lazarus syndrome
band-like calcification with simplified gyration and polymicrogyria
bannayan-riley-ruvalcaba syndrome
baraitser-winter syndrome 1
baraitser-winter syndrome 2
bardet-biedl syndrome 1, modifier of
bardet-biedl syndrome 10
bardet-biedl syndrome 11
bardet-biedl syndrome 12
bardet-biedl syndrome 13
bardet-biedl syndrome 14, modifier of
bardet-biedl syndrome 14
bardet-biedl syndrome 15
bardet-biedl syndrome 17
bardet-biedl syndrome 1
bardet-biedl syndrome 2
bardet-biedl syndrome 3
bardet-biedl syndrome 4
bardet-biedl syndrome 5
bardet-biedl syndrome 6
bardet-biedl syndrome 7
bardet-biedl syndrome 8
bardet-biedl syndrome 9
bardet-biedl syndrome, modifier of
bare lymphocyte syndrome, type i, due to tap2 deficiency
bare lymphocyte syndrome, type ii, complementation group a
bare lymphocyte syndrome, type ii, complementation group c
bare lymphocyte syndrome, type ii, complementation group d
bare lymphocyte syndrome, type ii, complementation group e
bare lymphocyte syndrome, type i
barrett esophagus/esophageal adenocarcinoma
bart-pumphrey syndrome
barth syndrome
bartter syndrome, type 1
bartter syndrome, type 2
bartter syndrome, type 3
bartter syndrome, type 4a
bartter syndrome, type 4b, digenic
basal cell carcinoma 7
basal cell carcinoma, somatic
basal cell carcinoma, susceptibility to, 1
basal cell carcinoma, susceptibility to, 2
basal cell carcinoma, susceptibility to, 3
basal cell carcinoma, susceptibility to, 4
basal cell carcinoma, susceptibility to, 5
basal cell carcinoma, susceptibility to, 6
basal cell nevus syndrome
basal ganglia calcification, idiopathic, 4
basal ganglia calcification, idiopathic, 5
basal ganglia calcification, idiopathic
basal ganglia cancification, idiopathic, 1
basal laminar drusen
bazex syndrome
bcg and salmonella infection, disseminated
bcg infection, generalized familial
beare-stevenson cutis gyrata syndrome
beaulieu-boycott-innes syndrome
becker muscular dystrophy
beckwith-wiedemann syndrome
bent bone dysplasia syndrome
benzene toxicity, susceptibility to
bernard-soulier syndrome, type a1 (recessive)
bernard-soulier syndrome, type a2 (dominant)
bernard-soulier syndrome, type b
bernard-soulier syndrome, type c
beryllium disease, chronic, susceptibility to
best macular dystrophy
bestrophinopathy
beta-2-adrenoreceptor agonist, reduced response to
beta-glycopyranoside tasting
beta-ureidopropionase deficiency
bethlem myopathy
bietti crystalline corneoretinal dystrophy
bifid nose with or without anorectal and renal anomalies
bile acid malabsorption, primary
bile acid synthesis defect, congenital, 1
bile acid synthesis defect, congenital, 2
bile acid synthesis defect, congenital, 3
bile acid synthesis defect, congenital, 4
biliary cirrhosis, primary, 2
biliary cirrhosis, primary, 3
biliary cirrhosis, primary
bilirubin, serum level of, qtl1
biotinidase deficiency
birbeck granule deficiency
birk-barel mental retardation dysmorphism syndrome
birt-hogg-dube syndrome
birth weight qtl 1
birth weight qtl 2
birth weight qtl 3
birth weight qtl4
bjornstad syndrome
bladder cancer susceptibility
bladder cancer, somatic
blau syndrome
bleeding disorder due to p2rx1 defect
bleeding disorder, east texas type
bleeding disorder, platelet-type, 11
bleeding disorder, platelet-type, 13, susceptibility to
bleeding disorder, platelet-type, 15
bleeding disorder, platelet-type, 16, autosomal dominant
bleeding disorder, platelet-type, 17
bleeding disorder, platelet-type, 8
blepharophimosis, epicanthus inversus, and ptosis, type 1
blepharophimosis, epicanthus inversus, and ptosis, type 2
blepharophimosis-ptosis-intellectual disability syndrome
blepharospasm, primary benign
blood group cromer
blood group gil
blood group, abo system
blood group, auberger system
blood group, colton
blood group, diego
blood group, dombrock
blood group, duffy system
blood group, froese
blood group, gerbich
blood group, globoside system
blood group, ii
blood group, indian system
blood group, john-milton-hagen system
blood group, kell
blood group, kidd
blood group, knops system
blood group, landsteiner-wiener
blood group, langereis system
blood group, lewis
blood group, lutheran null
blood group, lutheran system
blood group, mn
blood group, ok
blood group, p1pk system, p phenotype
blood group, p1pk system, p(2) phenotype
blood group, p1pk system, p(k) phenotype
blood group, radin
blood group, raph
blood group, rhesus
blood group, rodgers
blood group, scianna system
blood group, ss
blood group, stoltzfus system
blood group, swann
blood group, vel system
blood group, waldner
blood group, wright
blood group, xg system
blood group, yt system
blood group--lutheran inhibitor
blood pressure regulation qtl
bloom syndrome
blue cone monochromacy
body mass index qtl 15
body mass index qtl1
body mass index qtl13
body mass index qtl14
body mass index qtl16
body mass index qtl2
body mass index qtl3
body mass index qtl5
body mass index qtl6
bohring-opitz syndrome
bombay phenotype
bone marrow failure, familial
bone marrow failure, telomere-related, 1
bone mineral density qtl 10
bone mineral density qtl 11
bone mineral density qtl 12, osteoporosis
bone mineral density qtl 13
bone mineral density qtl 14
bone mineral density qtl 15
bone mineral density qtl 2
bone mineral density qtl 3
bone mineral density qtl 4
bone mineral density qtl 5
bone mineral density qtl 6
bone mineral density qtl 9
bone mineral density qtl18, osteoporosis
bone mineral density variability 1
bone mineral density variation qtl
bone mineral density, low, susceptibility to
bone size qtl
bone size quantitative trait locus 3
boomerang dysplasia
bor-duane hydrocephalus contiguous gene syndrome
borjeson-forssman-lehmann syndrome
bornholm eye disease
bosley-salih-alorainy syndrome
bothnia retinal dystrophy
bowen-conradi syndrome
brachiootic syndrome 3
brachydactyly, type a1, c
brachydactyly, type a1
brachydactyly, type a2
brachydactyly, type b1
brachydactyly, type b2
brachydactyly, type c
brachydactyly, type d
brachydactyly, type e2
brachydactyly, type e
brachydactyly-mental retardation syndrome
brachydactyly-syndactyly syndrome
brachyolmia 4 with mild epiphyseal and metaphyseal changes
brachyolmia type 3
bradyopsia
brain small vessel disease with axenfeld-rieger anomaly
brain small vessel disease with hemorrhage
brain tumor-polyposis syndrome 2
branched-chain ketoacid dehydrogenase kinase deficiency
branchiooculofacial syndrome
branchiootic syndrome 1
branchiootic syndrome 2
branchiootorenal syndrome 1, with or without cataracts
branchiootorenal syndrome 2
breast and colorectal cancer, susceptibility to
breast cancer susceptibility
breast cancer
breast cancer, 11:22 translocation associated
breast cancer, early-onset
breast cancer, invasive ductal
breast cancer, lobular
breast cancer, male, susceptibility to
breast cancer, poor survival after chemotherapy for
breast cancer, protection against
breast cancer, somatic
breast cancer, susceptibility to
breast cancer, type 3
breast-ovarian cancer, familial, 1
breast-ovarian cancer, familial, 2
breast-ovarian cancer, familial, susceptibility to, 3
breast-ovarian cancer, familial, susceptibility to, 4
brittle cornea syndrome 2
brittle cornea syndrome
brody myopathy
bronchiectasis with or without elevated sweat chloride 1, modifier of
bronchiectasis with or without elevated sweat chloride 1
bronchiectasis with or without elevated sweat chloride 2
bronchiectasis with or without elevated sweat chloride 3
brooke-spiegler syndrome
brown-vialetto-van laere syndrome 1
brown-vialetto-van laere syndrome 2
bruck syndrome 1
bruck syndrome 2
brugada syndrome 1
brugada syndrome 2
brugada syndrome 3
brugada syndrome 4
brugada syndrome 5
brugada syndrome 6
brugada syndrome 7
brugada syndrome 8
brunner syndrome
budd-chiari syndrome
bulimia nervosa, age of onset of weight loss in
bulimia nervosa, susceptibility to
burkitt lymphoma
buruli ulcer, susceptibility to
buschke-ollendorff syndrome
c syndrome
c-reactive protein qtl
c1q deficiency
c1r/c1s deficiency, combined
c1s deficiency
c2 deficiency
c3 deficiency
c3hex, ability to smell
c4a deficiency
c4b deficiency
c5 deficiency
c6 deficiency
c7 deficiency
c8 deficiency, type ii
c8 deficiency, type i
c9 deficiency
caffey disease
calcification of joints and arteries
calcium, serum level of
campomelic dysplasia with autosomal sex reversal
campomelic dysplasia
camptodactyly 1
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camurati-engelmann disease
canavan disease
cancer progression/metastasis
candidiasis, familial, 1, autosomal dominant
candidiasis, familial, 2, autosomal recessive
candidiasis, familial, 4, autosomal recessive
candidiasis, familial, 5, autosomal recessive
candidiasis, familial, 6, autosomal dominant
candidiasis, familial, 7
candidiasis, familial, 8
candidiasis, familial
cap myopathy 1
cap myopathy 2
capillary malformation-arteriovenous malformation
capillary malformations, congenital, 1, somatic, mosaic
capillary malformations, hereditary
carasil syndrome
carbamoylphosphate synthetase i deficiency
carboxylesterase 1 deficiency
carboxypeptidase n deficiency
carcinoid tumor of lung
carcinoid tumors, intestinal
cardiac arrhythmia, ankyrin-b-related
cardiac conduction defect, nonspecific
cardiac conduction defect, susceptibility to
cardiac valvular dysplasia, x-linked
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
cardiofaciocutaneous syndrome
cardiomyopathy, dilated 1b
cardiomyopathy, dilated 1c
cardiomyopathy, dilated, 1aa
cardiomyopathy, dilated, 1a
cardiomyopathy, dilated, 1bb
cardiomyopathy, dilated, 1cc
cardiomyopathy, dilated, 1dd
cardiomyopathy, dilated, 1d
cardiomyopathy, dilated, 1ee
cardiomyopathy, dilated, 1e
cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d
cardiomyopathy, dilated, 1ff
cardiomyopathy, dilated, 1gg
cardiomyopathy, dilated, 1g
cardiomyopathy, dilated, 1h
cardiomyopathy, dilated, 1hh
cardiomyopathy, dilated, 1ii
cardiomyopathy, dilated, 1i
cardiomyopathy, dilated, 1jj
cardiomyopathy, dilated, 1j
cardiomyopathy, dilated, 1k
cardiomyopathy, dilated, 1kk
cardiomyopathy, dilated, 1ll
cardiomyopathy, dilated, 1l
cardiomyopathy, dilated, 1mm
cardiomyopathy, dilated, 1m
cardiomyopathy, dilated, 1n
cardiomyopathy, dilated, 1o
cardiomyopathy, dilated, 1p
cardiomyopathy, dilated, 1q
cardiomyopathy, dilated, 1r
cardiomyopathy, dilated, 1s
cardiomyopathy, dilated, 1t
cardiomyopathy, dilated, 1u
cardiomyopathy, dilated, 1v
cardiomyopathy, dilated, 1w
cardiomyopathy, dilated, 1x
cardiomyopathy, dilated, 1y
cardiomyopathy, dilated, 1z
cardiomyopathy, dilated, 2a
cardiomyopathy, dilated, 2b
cardiomyopathy, dilated, 3b
cardiomyopathy, familial hypertrophic 17
cardiomyopathy, familial hypertrophic 6
cardiomyopathy, familial hypertrophic, 10
cardiomyopathy, familial hypertrophic, 11
cardiomyopathy, familial hypertrophic, 12
cardiomyopathy, familial hypertrophic, 13
cardiomyopathy, familial hypertrophic, 14
cardiomyopathy, familial hypertrophic, 15
cardiomyopathy, familial hypertrophic, 16
cardiomyopathy, familial hypertrophic, 18
cardiomyopathy, familial hypertrophic, 19
cardiomyopathy, familial hypertrophic, 1
cardiomyopathy, familial hypertrophic, 20
cardiomyopathy, familial hypertrophic, 2
cardiomyopathy, familial hypertrophic, 3
cardiomyopathy, familial hypertrophic, 4
cardiomyopathy, familial hypertrophic, 7
cardiomyopathy, familial hypertrophic, 8
cardiomyopathy, familial hypertrophic, 9
cardiomyopathy, familial hypertrophic
cardiomyopathy, familial restrictive, 3
cardiomyopathy, familial restrictive
cardiomyopathy, hypertrophic, midventricular, digenic
cardiomyopaty, familial restrictive 4
cardiomypathy, familial hypertrophic, 22
carney complex variant
carney complex, type 1
carney complex, type ii
carnitine acetyltransferase deficiency
carnitine deficiency, systemic primary
carnitine-acylcarnitine translocase deficiency
carnosinemia
carotid intimal medial thickness 1
carotid intimal medial thickness
carotid stenosis, susceptibility to
carpal tunnel syndrome, familial
carpenter syndrome 2
carpenter syndrome
cartilage-hair hypoplasia
cat eye syndrome
cataract 1, multiple types
cataract 10, multiple types
cataract 11, multiple types
cataract 11, syndromic
cataract 12, multiple types
cataract 13 with adult i phenotype
cataract 14, multiple types
cataract 15, multiple types
cataract 16, multiple types
cataract 17, multiple types
cataract 18, autosomal recessive
cataract 19
cataract 2, multiple types
cataract 20, multiple types
cataract 22, autosomal recessive
cataract 23
cataract 24, anterior polar
cataract 25
cataract 26, multiple types
cataract 27, nuclear progressive
cataract 28, age-related cortical, susceptibility to
cataract 29, coralliform
cataract 3, multiple types
cataract 30, pulverulent
cataract 31, multiple types
cataract 32, multiple types
cataract 33
cataract 34, multiple types
cataract 35, congenital nuclear
cataract 36
cataract 37, autosomal dominant
cataract 38, autosomal recessive
cataract 39, multiple types, autosomal dominant
cataract 4, multiple types
cataract 40, x-linked
cataract 41
cataract 5, multiple types
cataract 6, multiple types
cataract 7
cataract 8, multiple types
cataract 9, multiple types
cataract with late-onset corneal dystrophy
cataract, congenital
cataract, juvenile, with microcornea and glucosuria
cataract, pulverulent or cerulean, with or without microcornea
catel-manzke syndrome
catshl syndrome
caudal duplication anomaly
caudal regression syndrome
cavernous malformations of cns and retina
cavitary optic disc anomalies
cayler cardiofacial syndrome
cd11c+/cd1c+ dendritic cell deficiency, dominant
cd8 deficiency, familial
cdags syndrome
celiac disease, susceptibility to, 10
celiac disease, susceptibility to, 11
celiac disease, susceptibility to, 12
celiac disease, susceptibility to, 13
celiac disease, susceptibility to, 2
celiac disease, susceptibility to, 3
celiac disease, susceptibility to, 4
celiac disease, susceptibility to, 5
celiac disease, susceptibility to, 6
celiac disease, susceptibility to, 7
celiac disease, susceptibility to, 8
celiac disease, susceptibility to, 9
celiac disease, susceptibility to
cenani-lenz syndactyly syndrome
central core disease
central hypoventilation syndrome, congenital, with or without hirschsprung disease
central hypoventilation syndrome, congenital
central hypoventilation syndrome
centronuclear myopathy, autosomal, modifier of
centrotemporal epilepsy
cerebellar ataxia and hypogonadotropic hypogonadism
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
cerebellar ataxia, nonprogressive, with mental retardation
cerebellar ataxia
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants
cerebral amyloid angiopathy, prnp-related
cerebral amyloid angiopathy
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
cerebral cavernous malformations 3
cerebral cavernous malformations-1
cerebral cavernous malformations-2
cerebral creatine deficiency syndrome 1
cerebral creatine deficiency syndrome 2
cerebral creatine deficiency syndrome 3
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
cerebral infarction, susceptibility to
cerebral palsy, ataxic, autosomal recessive
cerebral palsy, spastic quadriplegic, 1
cerebral palsy, spastic quadriplegic, 2
cerebral-cerebellar-coloboma syndrome, x-linked
cerebrooculofacioskeletal syndrome 1
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
cerebroretinal microangiopathy with calcifications and cysts
cerebrotendinous xanthomatosis
cerebrovascular disease, occlusive
ceroid lipofuscinosis, neuronal, 10
ceroid lipofuscinosis, neuronal, 11
ceroid lipofuscinosis, neuronal, 12
ceroid lipofuscinosis, neuronal, 13, kufs type
ceroid lipofuscinosis, neuronal, 1
ceroid lipofuscinosis, neuronal, 2
ceroid lipofuscinosis, neuronal, 3
ceroid lipofuscinosis, neuronal, 4, parry type
ceroid lipofuscinosis, neuronal, 5
ceroid lipofuscinosis, neuronal, 6
ceroid lipofuscinosis, neuronal, 7
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
ceroid lipofuscinosis, neuronal, 8
ceroid lipofuscinosis, neuronal, kufs type, adult onset
cervical cancer, somatic
cervical carcinoma
chanarin-dorfman syndrome
char syndrome
charcot-marie-tooth disease, axonal, type 20
charcot-marie-tooth disease, axonal, type 2f
charcot-marie-tooth disease, axonal, type 2g
charcot-marie-tooth disease, axonal, type 2k
charcot-marie-tooth disease, axonal, type 2l
charcot-marie-tooth disease, axonal, type 2m
charcot-marie-tooth disease, axonal, type 2n
charcot-marie-tooth disease, axonal, type 2q
charcot-marie-tooth disease, axonal, with vocal cord paresis
charcot-marie-tooth disease, dominant intermediate a
charcot-marie-tooth disease, dominant intermediate b
charcot-marie-tooth disease, dominant intermediate c
charcot-marie-tooth disease, dominant intermediate d
charcot-marie-tooth disease, dominant intermediate e
charcot-marie-tooth disease, dominant intermediate f
charcot-marie-tooth disease, foot deformity of
charcot-marie-tooth disease, recessive intermediate c
charcot-marie-tooth disease, recessive intermediate, a
charcot-marie-tooth disease, recessive intermediate, b
charcot-marie-tooth disease, type 1a
charcot-marie-tooth disease, type 1b
charcot-marie-tooth disease, type 1c
charcot-marie-tooth disease, type 1d
charcot-marie-tooth disease, type 1e
charcot-marie-tooth disease, type 1f
charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2
charcot-marie-tooth disease, type 2b1
charcot-marie-tooth disease, type 2b2
charcot-marie-tooth disease, type 2b
charcot-marie-tooth disease, type 2d
charcot-marie-tooth disease, type 2e
charcot-marie-tooth disease, type 2i
charcot-marie-tooth disease, type 2j
charcot-marie-tooth disease, type 2r
charcot-marie-tooth disease, type 4a
charcot-marie-tooth disease, type 4b1
charcot-marie-tooth disease, type 4b2
charcot-marie-tooth disease, type 4b3
charcot-marie-tooth disease, type 4c
charcot-marie-tooth disease, type 4d
charcot-marie-tooth disease, type 4f
charcot-marie-tooth disease, type 4h
charcot-marie-tooth disease, type 4j
charcot-marie-tooth disease, x-linked dominant, 6
charcot-marie-tooth disease, x-linked recessive, 5
charcot-marie-tooth neuropathy, x-linked dominant, 1
charcot-marie-tooth neuropathy, x-linked recessive
charcot-marie-toothe disease, axonal, type 2p
charge syndrome
chediak-higashi syndrome
cherubism
chilblain lupus 2
chilblain lupus
child syndrome
chime syndrome
chitotriosidase deficiency
chloride diarrhea, congenital, finnish type
choanal atresia and lymphedema
cholangitis, primary sclerosing
cholestasis, benign recurrent intrahepatic, 2
cholestasis, benign recurrent intrahepatic
cholestasis, intrahepatic, of pregnancy, 1
cholestasis, intrahepatic, of pregnancy, 3
cholestasis, progressive canalicular
cholestasis, progressive familial intrahepatic 1
cholestasis, progressive familial intrahepatic 2
cholestasis, progressive familial intrahepatic 3
cholestasis-lymphedema syndrome
cholesterol level qtl 1
cholesterol level qtl 2
cholesteryl ester storage disease
chondrocalcinosis 2
chondrocalcinosis with early-onset osteoarthritis
chondrodysplasia punctata, rhizomelic, type 2
chondrodysplasia punctata, x-linked dominant
chondrodysplasia punctata, x-linked recessive
chondrodysplasia with joint dislocations, grapp type
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
chondrodysplasia, blomstrand type
chondrodysplasia, grebe type
chondrosarcoma, extraskeletal myxoid
chondrosarcoma
chordoma, susceptibility to
chorea, hereditary benign
choreoacanthocytosis
choreoathetosis, hypothyroidism, and neonatal respiratory distress
choreoathetosis/spasticity, episodic
choriodal dystrophy, central areolar 2
chorioretinal atrophy, progressive bifocal
choroid plexus papilloma
choroidal dystrophy, central areolar 1
choroideremia, deafness, and mental retardation
choroideremia
chromosome 10q23 deletion syndrome
chromosome 10q26 deletion syndrome
chromosome 11p15-p14 deletion syndrome
chromosome 13q14 deletion syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220kb
chromosome 16p11.2 deletion syndrome, 593kb
chromosome 16p11.2 duplication syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16p13.3 deletion syndrome
chromosome 16p13.3 duplication syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 17q11.2 deletion syndrome, 1.4mb
chromosome 17q12 deletion syndrome
chromosome 17q12 duplication syndrome
chromosome 17q21.31 duplication syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 17q23.1-q23.2 duplication syndrome
chromosome 18 pericentric inversion
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19p13.13 duplication syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p32-p31 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 1q21.1 duplication syndrome
chromosome 1q41-q42 deletion syndrome
chromosome 1q43-q44 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 22q11.2 microduplication syndrome
chromosome 22q13 duplication syndrome
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.1 duplication syndrome
chromosome 2q31.2 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 3q29 microduplication syndrome
chromosome 4q21 deletion syndrome
chromosome 4q32.1-q32.2 triplication syndrome
chromosome 5p13 duplication syndrome
chromosome 5q14.3 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q25-q25 deletion syndrome
chromosome 7q11.23 deletion syndrome, distal, 1.2mb
chromosome 7q11.23 duplication syndrome
chromosome 8p11 myeloproliferative syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome xp11.23-p11.22 duplication syndrome
chromosome xp11.3 deletion syndrome
chromosome xp21 deletion syndrome
chromosome xq27.3-q28 duplication syndrome
chromosome xq28 duplication syndrome
chrondrodysplasia, acromesomelic, with genital anomalies
chronic granulomatous disease due to deficiency of ncf-1
chronic granulomatous disease due to deficiency of ncf-2
chronic granulomatous disease, autosomal, due to deficiency of cyba
chronic granulomatous disease, x-linked
chronic infections, due to mbl deficiency
chudley-mccullough syndrome
chylomicron retention disease
ciliary dyskinesia, primary, 1, with or without situs inversus
ciliary dyskinesia, primary, 10
ciliary dyskinesia, primary, 11
ciliary dyskinesia, primary, 12
ciliary dyskinesia, primary, 13
ciliary dyskinesia, primary, 14
ciliary dyskinesia, primary, 15
ciliary dyskinesia, primary, 16
ciliary dyskinesia, primary, 17
ciliary dyskinesia, primary, 18
ciliary dyskinesia, primary, 19
ciliary dyskinesia, primary, 20
ciliary dyskinesia, primary, 21
ciliary dyskinesia, primary, 22
ciliary dyskinesia, primary, 23
ciliary dyskinesia, primary, 24
ciliary dyskinesia, primary, 25
ciliary dyskinesia, primary, 26
ciliary dyskinesia, primary, 27
ciliary dyskinesia, primary, 28
ciliary dyskinesia, primary, 2
ciliary dyskinesia, primary, 3, with or without situs inversus
ciliary dyskinesia, primary, 5
ciliary dyskinesia, primary, 6
ciliary dyskinesia, primary, 7, with or without situs inversus
ciliary dyskinesia, primary, 9, with or without situs inversus
ciliary dyskinesia, primary
cinca syndrome
cinnamon odor, pleasantness of
cirrhosis due to liver phosphorylase kinase deficiency
cirrhosis, cryptogenic
cirrhosis, noncryptogenic, susceptibility to
cirrhosis, north american indian childhood type
citrullinemia, adult-onset type ii
citrullinemia, type ii, neonatal-onset
citrullinemia
ck syndrome
cleft lip/palate-ectodermal dysplasia syndrome
cleft palate with ankyloglossia
cleft palate, isolated
cleidocranial dysplasia, forme fruste, dental anomalies only
cleidocranial dysplasia, forme fruste, with brachydactyly
cleidocranial dysplasia
clopidogrel, impaired responsiveness to
clove syndrome, somatic
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
coach syndrome
cockayne syndrome, type a
cockayne syndrome, type b
cocoon syndrome
codeine sensitivity
coenzyme q10 deficiency, primary, 1
coenzyme q10 deficiency, primary, 2
coenzyme q10 deficiency, primary, 3
coenzyme q10 deficiency, primary, 4
coenzyme q10 deficiency, primary, 5
coenzyme q10 deficiency, primary, 6
coffin-lowry syndrome
coffin-siris syndrome
cognitive impairment with or without cerebellar ataxia
cohen syndrome
colchicine resistance
cold-induced autoinflammatory syndrome, familial
cold-induced sweating syndrome 1
cold-induced sweating syndrome
cole disease
coloboma of optic nerve
coloboma, ocular
colon cancer
colon cancer, advanced
colon cancer, somatic
colon cancer, susceptibility to
colonic adenoma recurrence, reduced risk of
colorblindness, deutan
colorblindness, protan
colorblindness, tritan
colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
colorectal cancer with chromosomal instability
colorectal cancer, hereditary nonpolyposis, type 1
colorectal cancer, hereditary nonpolyposis, type 2
colorectal cancer, hereditary nonpolyposis, type 4
colorectal cancer, hereditary nonpolyposis, type 5
colorectal cancer, hereditary nonpolyposis, type 6
colorectal cancer, hereditary nonpolyposis, type 7
colorectal cancer, hereditary nonpolyposis, type 8
colorectal cancer, somatic
colorectal cancer, susceptibility to, 10
colorectal cancer, susceptibility to, 11
colorectal cancer, susceptibility to, 12
colorectal cancer, susceptibility to, 1
colorectal cancer, susceptibility to, 2
colorectal cancer, susceptibility to, 3
colorectal cancer, susceptibility to, 4
colorectal cancer, susceptibility to, 5
colorectal cancer, susceptibility to, 6
colorectal cancer, susceptibility to, 7
colorectal cancer, susceptibility to, 8
colorectal cancer, susceptibility to, 9
colorectal cancer, susceptibility to
colorectal cancer
colostrum secretion, variation in
combined c6/c7 deficiency
combined cellular and humoral immune defects with granulomas
combined d-2- and l-2-hydroxyglutaric aciduria
combined factor v and viii deficiency
combined hyperlipidemia, familial
combined immunodeficiency, x-linked, moderate
combined malonic and methylmalonic aciduria
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
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 oxidative phosphorylation deficiency 6
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
combined sap deficiency
complement component 4, partial deficiency of
complement factor b deficiency
complement factor d deficiency
complement factor h deficiency
complement factor i deficiency
complex i, mitochondrial respiratory chain, deficiency of
cone dystrophy 4
cone dystrophy, progressive x-linked
cone dystrophy-3
cone-rod dystrophy 10
cone-rod dystrophy 11
cone-rod dystrophy 12
cone-rod dystrophy 13
cone-rod dystrophy 14
cone-rod dystrophy 15
cone-rod dystrophy 16
cone-rod dystrophy 17
cone-rod dystrophy 18
cone-rod dystrophy 3
cone-rod dystrophy 5
cone-rod dystrophy 6, 601777
cone-rod dystrophy 7
cone-rod dystrophy 8
cone-rod dystrophy 9
cone-rod dystrophy
cone-rod dystrophy, x-linked, 1
cone-rod dystropy, x-linked, 3
cone-rod retinal dystrophy-1
cone-rod retinal dystrophy-2
congenital anomalies of kidney and urinary tract, susceptibility to
congenital bilateral absence of vas deferens
congenital cataracts, facial dysmorphism, and neuropathy
congenital cataracts, hearing loss, and neurodegeneration
congenital disorder of glycosylation, type ia
congenital disorder of glycosylation, type ib
congenital disorder of glycosylation, type ic
congenital disorder of glycosylation, type id
congenital disorder of glycosylation, type ie
congenital disorder of glycosylation, type if
congenital disorder of glycosylation, type ig
congenital disorder of glycosylation, type ih
congenital disorder of glycosylation, type iia
congenital disorder of glycosylation, type iib
congenital disorder of glycosylation, type iic
congenital disorder of glycosylation, type iid
congenital disorder of glycosylation, type iie
congenital disorder of glycosylation, type iif
congenital disorder of glycosylation, type iig
congenital disorder of glycosylation, type iih
congenital disorder of glycosylation, type iii
congenital disorder of glycosylation, type iij
congenital disorder of glycosylation, type iik
congenital disorder of glycosylation, type iil
congenital disorder of glycosylation, type iim
congenital disorder of glycosylation, type ii
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 disorder of glycosylation, type io
congenital disorder of glycosylation, type ip
congenital disorder of glycosylation, type iq
congenital disorder of glycosylation, type ir
congenital disorder of glycosylation, type is
congenital disorder of glycosylation, type it
congenital disorder of glycosylation, type iu
congenital disorder of glycosylation, type iv
congenital disorder of glycosylation, type iw
congenital disorder of glycosylation, type ix
congenital heart defects, multiple types
congenital heart defects, nonsyndromic, 1, x-linked
congenital heart defects, nonsyndromic, 2
congenital myopathy with excess of muscle spindles
congenital short bowel syndrome
congestive heart failure and beta-blocker response, modifier of
conjunctivitis, ligneous
conotruncal anomaly face syndrome
conotruncal heart malformations, variable
contractural arachnodactyly, congenital
convulsions, familial infantile, with paroxysmal choreoathetosis
copd, rate of decline of lung function in
coproporphyria
cornea plana congenita, recessive
corneal clouding, autosomal recessive
corneal dystrophy polymorphous posterior, 2
corneal dystrophy, avellino type
corneal dystrophy, congenital stromal
corneal dystrophy, endothelial, x-linked
corneal dystrophy, epithelial basement membrane
corneal dystrophy, fuchs endothelial, 1
corneal dystrophy, fuchs endothelial, 4
corneal dystrophy, fuchs endothelial, 6
corneal dystrophy, fuchs endothelial, 8
corneal dystrophy, fuchs endothelial
corneal dystrophy, gelatinous drop-like
corneal dystrophy, groenouw type i
corneal dystrophy, hereditary polymorphous posterior
corneal dystrophy, lattice type iiia
corneal dystrophy, lattice type i
corneal dystrophy, lisch epithelial
corneal dystrophy, posterior polymorphous, 3
corneal dystrophy, reis-bucklers type
corneal dystrophy, schnyder type
corneal dystrophy, thiel-behnke type
corneal endothelial dystrophy 1, autosomal dominant
corneal endothelial dystrophy 2, autosomal recessive
corneal endothelial dystrophy and perceptive deafness
corneal fleck dystrophy
corneal intraepithelial dyskeratosis and ectodermal dysplasia
cornelia de lange syndrome 1
cornelia de lange syndrome 2
cornelia de lange syndrome 3
cornelia de lange syndrome 4
cornelia de lange syndrome 5
coronary artery disease in familial hypercholesterolemia, protection against
coronary artery disease
coronary artery disease, autosomal dominant, 1
coronary artery disease, autosomal dominant, 2
coronary artery disease, modifier of
coronary artery disease, resistance to
coronary artery disease, susceptibility to
coronary artery spasm 1, susceptibility to
coronary artery spasm 2, susceptibility to
coronary heart disease, susceptibility to
coronary heart disease, susceptibility to, 2
coronary heart disease, susceptibility to, 3
coronary heart disease, susceptibility to, 4
coronary heart disease, susceptibility to, 5
coronary heart disease, susceptibility to, 6
coronary heart disease, susceptibility to, 7
coronary heart disease, susceptibility to, 8
coronary heart disease, susceptibility to, 9
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
corpus callosum, partial agenesis of
cortical dysplasia, complex, with other brain malformations 1
cortical dysplasia, complex, with other brain malformations 2
cortical dysplasia, complex, with other brain malformations 3
cortical dysplasia, complex, with other brain malformations 4
cortical dysplasia-focal epilepsy syndrome
cortical malformations, occipital
corticosteroid-binding globulin deficiency
cortisol resistance
cortisone reductase deficiency 1
cortisone reductase deficiency 2
costello syndrome
coumarin resistance
cousin syndrome
cowchock syndrome
cowden syndrome 1
cowden syndrome 2
cowden syndrome 3
cowden syndrome 4
cowden syndrome 5
cowden syndrome 6
cpt deficiency, hepatic, type ia
cpt deficiency, hepatic, type ii
cpt ii deficiency, lethal neonatal
cr1 deficiency
craniodiaphyseal dysplasia, autosomal dominant
cranioectodermal dysplasia 1
cranioectodermal dysplasia 2
cranioectodermal dysplasia 3
cranioectodermal dysplasia 4
craniofacial anomalies and anterior segment dysgenesis syndrome
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
craniofacial-deafness-hand syndrome
craniofacial-skeletal-dermatologic dysplasia
craniofacioskeletal syndrome
craniofrontonasal dysplasia
craniolenticulosutural dysplasia
craniometaphyseal dysplasia, autosomal recessive
craniometaphyseal dysplasia
cranioosteoarthropathy
craniosynostosis 3
craniosynostosis 4
craniosynostosis 5, susceptibility to
craniosynostosis and dental anomalies
craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
craniosynostosis, adelaide type
craniosynostosis, nonspecific
craniosynostosis, philadelphia type
craniosynostosis, type 1
craniosynostosis, type 2
crash syndrome
creatine kinase, brain type, ectopic expression of
creatine phosphokinase, elevated serum
creatinine clearance qtl
creutzfeldt-jakob disease, variant, resistance to
creutzfeldt-jakob disease
crigler-najjar syndrome, type ii
crigler-najjar syndrome, type i
crohn disease-associated growth failure
crouzon syndrome with acanthosis nigricans
crouzon syndrome
cryptorchidism
cubitus valgus with mental retardation and unusual facies
currarino syndrome
cutaneous telangiectasia and cancer syndrome, familial
cutis laxa, ad
cutis laxa, autosomal dominant 2
cutis laxa, autosomal recessive, type ia
cutis laxa, autosomal recessive, type ib
cutis laxa, autosomal recessive, type ic
cutis laxa, autosomal recessive, type iia
cutis laxa, autosomal recessive, type iib
cutis laxa, autosomal recessive, type iiia
cutis laxa, autosomal recessive, type iiib
cyanosis, transient neonatal
cylindromatosis, familial
cystathioninuria
cystic fibrosis lung disease, modifier of
cystic fibrosis
cystinosis, atypical nephropathic
cystinosis, late-onset juvenile or adolescent nephropathic
cystinosis, nephropathic
cystinosis, ocular nonnephropathic
cystinuria
cytochrome c oxidase deficiency
czech dysplasia
d-2-hydroxyglutaric aciduria 2
d-2-hydroxyglutaric aciduria
d-bifunctional protein deficiency
d-glyceric aciduria
dandy-walker syndrome
danon disease
darier disease
de la chapelle dysplasia
de sanctis-cacchione syndrome
deafness and male infertility
deafness and myopia
deafness, autosomal dominant 10
deafness, autosomal dominant 11
deafness, autosomal dominant 13
deafness, autosomal dominant 15
deafness, autosomal dominant 16
deafness, autosomal dominant 17
deafness, autosomal dominant 18
deafness, autosomal dominant 1
deafness, autosomal dominant 20/26
deafness, autosomal dominant 21
deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
deafness, autosomal dominant 22
deafness, autosomal dominant 23
deafness, autosomal dominant 24
deafness, autosomal dominant 25
deafness, autosomal dominant 27
deafness, autosomal dominant 28
deafness, autosomal dominant 2a
deafness, autosomal dominant 2b
deafness, autosomal dominant 30
deafness, autosomal dominant 31
deafness, autosomal dominant 33
deafness, autosomal dominant 36, with dentinogenesis
deafness, autosomal dominant 36
deafness, autosomal dominant 3a
deafness, autosomal dominant 3b
deafness, autosomal dominant 40
deafness, autosomal dominant 41
deafness, autosomal dominant 43
deafness, autosomal dominant 44
deafness, autosomal dominant 47
deafness, autosomal dominant 48
deafness, autosomal dominant 49
deafness, autosomal dominant 4a
deafness, autosomal dominant 4b
deafness, autosomal dominant 50
deafness, autosomal dominant 51
deafness, autosomal dominant 52
deafness, autosomal dominant 53
deafness, autosomal dominant 54
deafness, autosomal dominant 56
deafness, autosomal dominant 59
deafness, autosomal dominant 5
deafness, autosomal dominant 6/14/38
deafness, autosomal dominant 64
deafness, autosomal dominant 7
deafness, autosomal dominant 8/12
deafness, autosomal dominant 9
deafness, autosomal dominant, with peripheral neuropathy
deafness, autosomal recessive 12, modifier of
deafness, autosomal recessive 12
deafness, autosomal recessive 13
deafness, autosomal recessive 14
deafness, autosomal recessive 15
deafness, autosomal recessive 16
deafness, autosomal recessive 17
deafness, autosomal recessive 18a
deafness, autosomal recessive 18b
deafness, autosomal recessive 1a
deafness, autosomal recessive 1b
deafness, autosomal recessive 20
deafness, autosomal recessive 21
deafness, autosomal recessive 22
deafness, autosomal recessive 23
deafness, autosomal recessive 24
deafness, autosomal recessive 25
deafness, autosomal recessive 26
deafness, autosomal recessive 27
deafness, autosomal recessive 28
deafness, autosomal recessive 29
deafness, autosomal recessive 2
deafness, autosomal recessive 30
deafness, autosomal recessive 31
deafness, autosomal recessive 32
deafness, autosomal recessive 33
deafness, autosomal recessive 35
deafness, autosomal recessive 36
deafness, autosomal recessive 37
deafness, autosomal recessive 38
deafness, autosomal recessive 39
deafness, autosomal recessive 3
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
deafness, autosomal recessive 40
deafness, autosomal recessive 42
deafness, autosomal recessive 44
deafness, autosomal recessive 45
deafness, autosomal recessive 46
deafness, autosomal recessive 48
deafness, autosomal recessive 49
deafness, autosomal recessive 5
deafness, autosomal recessive 51
deafness, autosomal recessive 53
deafness, autosomal recessive 55
deafness, autosomal recessive 59
deafness, autosomal recessive 61
deafness, autosomal recessive 62
deafness, autosomal recessive 63
deafness, autosomal recessive 65
deafness, autosomal recessive 66
deafness, autosomal recessive 67
deafness, autosomal recessive 68
deafness, autosomal recessive 6
deafness, autosomal recessive 70
deafness, autosomal recessive 71
deafness, autosomal recessive 74
deafness, autosomal recessive 76
deafness, autosomal recessive 77
deafness, autosomal recessive 79
deafness, autosomal recessive 7
deafness, autosomal recessive 8/10
deafness, autosomal recessive 81
deafness, autosomal recessive 83
deafness, autosomal recessive 84a
deafness, autosomal recessive 84b
deafness, autosomal recessive 85
deafness, autosomal recessive 86
deafness, autosomal recessive 88
deafness, autosomal recessive 89
deafness, autosomal recessive 91
deafness, autosomal recessive 93
deafness, autosomal recessive 96
deafness, autosomal recessive 98
deafness, autosomal recessive 9
deafness, autosomal recessive
deafness, cataract, retinitis pigmentosa, and sperm abnormalities
deafness, congenital heart defects, and posterior embryotoxon
deafness, congenital with inner ear agenesis, microtia, and microdontia
deafness, digenic gjb2/gjb6
deafness, digenic, gjb2/gjb3
deafness, dystonia, and cerebral hypomyelination
deafness, mitochondrial, modifier of
deafness, neurosensory, autosomal recessive 47
deafness, neurosensory, without vestibular involvement, autosomal dominant
deafness, nonsyndromic
deafness, nonsyndromic, modifier 1
deafness, x-linked 1, progressive
deafness, x-linked 1
deafness, x-linked 2
deafness, x-linked 3
deafness, x-linked 4
deafness, x-linked 5
deafness, x-linked 6
deafness, y-linked 1
debrisoquine sensitivity
decr deficiency
deep venous thrombosis, protection against
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
dejerine-sottas disease, autosomal recessive
dejerine-sottas disease
delayed sleep phase syndrome, susceptibility to
delta-beta thalassemia
dementia, familial british
dementia, familial danish
dementia, familial, nonspecific
dementia, frontotemporal, with or without parkinsonism
dementia, frontotemporal
dementia, lewy body
dementia, vascular, susceptibility to
dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency
dengue fever, protection against
dent disease 2
dent disease
dentatorubro-pallidoluysian atrophy
dentin dysplasia, type i, with microdontia and misshapen teeth
dentin dysplasia, type ii
dentinogenesis imperfecta, shields type iii
dentinogenesis imperfecta, shields type ii
denys-drash syndrome
dermatitis, atopic, susceptibility to, 1
dermatitis, atopic, susceptibility to, 2
dermatitis, atopic, susceptibility to, 3
dermatitis, atopic, susceptibility to, 4
dermatitis, atopic, susceptibility to, 5
dermatitis, atopic, susceptibility to, 6
dermatitis, atopic, susceptibility to, 7
dermatofibrosarcoma protuberans
dermatopathia pigmentosa reticularis
dermoids of cornea
desbuquois dysplasia
desmoid disease, hereditary
desmosterolosis
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
diabetes insipidus, nephrogenic
diabetes insipidus, neurohypophyseal
diabetes mellitus, gestational
diabetes mellitus, insulin-dependent, 11
diabetes mellitus, insulin-dependent, 13
diabetes mellitus, insulin-dependent, 15
diabetes mellitus, insulin-dependent, 17
diabetes mellitus, insulin-dependent, 18
diabetes mellitus, insulin-dependent, 19
diabetes mellitus, insulin-dependent, 20
diabetes mellitus, insulin-dependent, 21
diabetes mellitus, insulin-dependent, 22
diabetes mellitus, insulin-dependent, 23
diabetes mellitus, insulin-dependent, 24
diabetes mellitus, insulin-dependent, 2
diabetes mellitus, insulin-dependent, 3
diabetes mellitus, insulin-dependent, 4
diabetes mellitus, insulin-dependent, 5
diabetes mellitus, insulin-dependent, 6
diabetes mellitus, insulin-dependent, 7
diabetes mellitus, insulin-dependent, 8
diabetes mellitus, insulin-dependent, neonatal
diabetes mellitus, insulin-dependent, susceptibility to
diabetes mellitus, insulin-dependent, x-linked
diabetes mellitus, insulin-dependent-1
diabetes mellitus, insulin-dependent
diabetes mellitus, insulin-resistant, with acanthosis nigricans
diabetes mellitus, ketosis-prone
diabetes mellitus, neonatal, with congenital hypothyroidism
diabetes mellitus, non-insulin-dependent, susceptibility to
diabetes mellitus, noninsulin-dependent 1
diabetes mellitus, noninsulin-dependent, 2
diabetes mellitus, noninsulin-dependent, association with
diabetes mellitus, noninsulin-dependent, late onset
diabetes mellitus, noninsulin-dependent, susceptibility to
diabetes mellitus, noninsulin-dependent
diabetes mellitus, permanent neonatal, with cerebellar agenesis
diabetes mellitus, permanent neonatal, with neurologic features
diabetes mellitus, permanent neonatal
diabetes mellitus, transient neonatal 2
diabetes mellitus, transient neonatal, 1
diabetes mellitus, transient neonatal, 3
diabetes mellitus, transient neonatal
diabetes mellitus, type 1, susceptibility to
diabetes mellitus, type 1
diabetes mellitus, type 2, susceptibility to
diabetes mellitus, type 2, susceptiblity to
diabetes mellitus, type 2
diabetes mellitus, type i, susceptibility to
diabetes mellitus, type ii, susceptibility to
diabetes mellitus, type ii
diabetes, mellitus, insulin-dependent, susceptibility to, 10
diabetes, permanent neonatal
diabetes, susceptibility to, 222100
diabetes, type 1, susceptibility to
diabetes, type 2, susceptibility to
diabetes, type 2
diamond-blackfan anemia 10
diamond-blackfan anemia 11
diamond-blackfan anemia 12
diamond-blackfan anemia 1
diamond-blackfan anemia 2
diamond-blackfan anemia 3
diamond-blackfan anemia 4
diamond-blackfan anemia 5
diamond-blackfan anemia 6
diamond-blackfan anemia 7
diamond-blackfan anemia 8
diamond-blackfan anemia 9
diaphanospondylodysostosis
diaphragmatic hernia 3
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diarrhea 3, secretory sodium, congenital, syndromic
diarrhea 4, malabsorptive, congenital
diarrhea 5, with tufting enteropathy, congenital
diarrhea 6
diastrophic dysplasia, broad bone-platyspondylic variant
diastrophic dysplasia
digeorge syndrome/velocardiofacial syndrome complex-2
digeorge syndrome
digital arthropathy-brachydactyly, familial
digital clubbing, isolated congenital
dihydrolipoamide dehydrogenase deficiency
dihydropyrimidine dehydrogenase deficiency
dihydropyrimidinuria
dilated cardiomyopathy with woolly hair and keratoderma
dimethylglycine dehydrogenase deficiency
diphenylhydantoin toxicity
diphtheria, susceptibility to
disordered steroidogenesis due to cytochrome p450 oxidoreductase
dna ligase i deficiency
dna topoisomerase i, camptothecin-resistant
dna topoisomerase ii, resistance to inhibition of, by amsacrine
donnai-barrow syndrome
door syndrome
dopamine beta-hydroxylase deficiency
dopamine receptor d2, reduced brain density of
dopamine-beta-hydroxylase activity levels, plasma
double-outlet right ventricle
dowling-degos disease 1
dowling-degos disease 2
down syndrome
doyne honeycomb degeneration of retina
dravet syndrome, modifier of
dravet syndrome
drug addiction, susceptibility to
drug-induced liver injury due to flucloxacillin
du pan syndrome
duane retraction syndrome 1
duane retraction syndrome 2
duane-radial ray syndrome
dubin-johnson syndrome
duchenne muscular dystrophy
dupuytren contracture 1
dursun syndrome
dyggve-melchior-clausen disease
dysalbuminemic hyperthyroxinemia
dysalbuminemic hyperzincemia
dysautonomia, familial
dyschromatosis symmetrica hereditaria
dyschromatosis universalis hereditaria 1
dyschromatosis universalis hereditaria 2
dyschromatosis universalis hereditaria 3
dyserythropoietic anemia, congenital, type ia
dyserythropoietic anemia, congenital, type ib
dyserythropoietic anemia, congenital, type iii
dyserythropoietic anemia, congenital, type ii
dyserythropoietic anemia, congenital, type iv
dysfibrinogenemia, alpha type, causing bleeding diathesis
dysfibrinogenemia, alpha type, causing recurrent thrombosis
dysfibrinogenemia, beta type
dysfibrinogenemia, gamma type
dyskeratosis congenita, autosomal dominant 1
dyskeratosis congenita, autosomal dominant 2
dyskeratosis congenita, autosomal dominant 3
dyskeratosis congenita, autosomal dominant 4
dyskeratosis congenita, autosomal recessive 1
dyskeratosis congenita, autosomal recessive 2
dyskeratosis congenita, autosomal recessive 3
dyskeratosis congenita, autosomal recessive 4
dyskeratosis congenita, autosomal recessive 5
dyskeratosis congenita, x-linked
dyskeratosis, hereditary benign intraepithelial
dyskinesia, familial, with facial myokymia
dyslexia, susceptibility to, 1
dyslexia, susceptibility to, 2
dyslexia, susceptibility to, 3
dyslexia, susceptibility to, 5
dyslexia, susceptibility to, 6
dyslexia, susceptibility to, 8
dyslexia, susceptibility to, 9
dysprothrombinemia
dyssegmental dysplasia, silverman-handmaker type
dystonia 13, torsion
dystonia 16
dystonia 21
dystonia 23
dystonia 24
dystonia 25
dystonia 4, torsion, autosomal dominant
dystonia 6, torsion
dystonia 9
dystonia, dopa-responsive, due to sepiapterin reductase deficiency
dystonia, dopa-responsive, with or without hyperphenylalaninemia
dystonia, early-onset atypical, with myoclonic features
dystonia, juvenile-onset
dystonia, myoclonic
dystonia, primary cervical
dystonia-1, modifier of
dystonia-1, torsion
dystonia-11, myoclonic
dystonia-12
dystonia-15, myoclonic
dystonia-17, primary torsion
dystonia-7, torsion
dystonia-parkinsonism, x-linked
dystransthyretinemic hyperthyroxinemia
eagle-barrett syndrome
earwax, wet/dry
ebd inversa
ebd, bart type
ebd, localisata variant
ectodermal dysplasia 1, hypohidrotic, x-linked
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive
ectodermal dysplasia 2, clouston type
ectodermal dysplasia 3, witkop type
ectodermal dysplasia 4, hair/nail type
ectodermal dysplasia 5, hair/nail type
ectodermal dysplasia 6, hair/nail type
ectodermal dysplasia 7, hair/nail type
ectodermal dysplasia 8, hair/tooth/nail type
ectodermal dysplasia 9, hair/nail type
ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency
ectodermal dysplasia, ectrodactyly, and macular dystrophy
ectodermal dysplasia, hypohidrotic, with immune deficiency
ectodermal dysplasia-syndactyly syndrome 1
ectodermal dysplasia-syndactyly syndrome 2
ectodermal dysplasia/skin fragility syndrome
ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency
ectopia lentis et pupillae
ectopia lentis, familial
ectopia lentis, isolated, autosomal recessive
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
edict syndrome
eec syndrome-1
efavirenz central nervous system toxicity, susceptibility to
efavirenz, poor metabolism of
ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ehlers-danlos syndrome, autosomal dominant, hypermobility type
ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency
ehlers-danlos syndrome, cardiac valvular form
ehlers-danlos syndrome, musculocontractural type 1
ehlers-danlos syndrome, musculocontractural type 2
ehlers-danlos syndrome, progeroid type, 1
ehlers-danlos syndrome, progeroid type, 2
ehlers-danlos syndrome, type iii
ehlers-danlos syndrome, type ii
ehlers-danlos syndrome, type iv
ehlers-danlos syndrome, type i
ehlers-danlos syndrome, type viia
ehlers-danlos syndrome, type viib
ehlers-danlos syndrome, type viic
ehlers-danlos syndrome, type viii
ehlers-danlos syndrome, type vi
eiken syndrome
elliptocytosis-1
elliptocytosis-2
elliptocytosis-3
ellis-van creveld syndrome
emanuel syndrome
emberger syndrome
emery-dreifuss muscular dystrophy 1, x-linked
emery-dreifuss muscular dystrophy 2, ad
emery-dreifuss muscular dystrophy 3, ar
emery-dreifuss muscular dystrophy 4, autosomal dominant
emery-dreifuss muscular dystrophy 5, autosomal dominant
emery-dreifuss muscular dystrophy 6, x-linked
emery-dreifuss muscular dystrophy 7, ad
emphysema due to aat deficiency
emphysema-cirrhosis, due to aat deficiency
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
encephalopathy, acute, infection-induced, 3, susceptibility to
encephalopathy, acute, infection-induced, 4, susceptibility to
encephalopathy, acute, infection-induced, susceptibility to, 6
encephalopathy, familial, with neuroserpin inclusion bodies
encephalopathy, neonatal severe
end-stage renal disease, nondiabetic, susceptibility to
endocrine-cerebroosteodysplasia
endometrial cancer, familial
endometrial cancer
endometrial carcinoma
endometrial carcinoma, somatic
endometrial stromal tumors
endometriosis, susceptibility to, 1
endotoxin hyporesponsiveness
endplate acetylcholinesterase deficiency
enhanced s-cone syndrome
enlarged vestibular aqueduct, digenic
enlarged vestibular aqueduct
enolase deficiency
enterokinase deficiency
enuresis, nocturnal
eosinophil peroxidase deficiency
eosinophilia, familial
epidermal nevus, somatic
epidermodysplasia verruciformis
epidermolysis bullosa dystrophica, ad
epidermolysis bullosa dystrophica, ar
epidermolysis bullosa dystrophica, autosomal recessive, modifier of
epidermolysis bullosa of hands and feet
epidermolysis bullosa pruriginosa
epidermolysis bullosa simplex with pyloric atresia
epidermolysis bullosa simplex, dowling-meara type
epidermolysis bullosa simplex, koebner type
epidermolysis bullosa simplex, ogna type
epidermolysis bullosa simplex, recessive 1
epidermolysis bullosa simplex, sutosomal recessive 2
epidermolysis bullosa simplex, weber-cockayne type
epidermolysis bullosa simplex-mp
epidermolysis bullosa, generalized atrophic benign
epidermolysis bullosa, junctional, herlitz type
epidermolysis bullosa, junctional, non-herlitz type
epidermolysis bullosa, junctional, with pyloric atresia
epidermolysis bullosa, junctional, with pyloric stenosis
epidermolysis bullosa, lethal acantholytic
epidermolysis bullosa, nonspecific, autosomal recessive
epidermolysis bullosa, pretibial
epidermolytic hyperkeratosis
epidermylysis bullosa simplex-mcr
epilepsy idiopathic generalized, susceptibility to, 8
epilepsy, childhood absence, susceptibility to, 2
epilepsy, childhood absence, susceptibility to, 4
epilepsy, childhood absence, susceptibility to, 5
epilepsy, childhood absence, susceptibility to, 6
epilepsy, childhood absence
epilepsy, familial adult myoclonic, 5
epilepsy, familial adult myoclonic
epilepsy, familial focal, with variable foci
epilepsy, familial mesial temporal lobe
epilepsy, familial temporal lobe, 1
epilepsy, familial temporal lobe, 5
epilepsy, familial temporal lobe
epilepsy, focal, with speech disorder and with or without mental retardation
epilepsy, generalized, with febrile seizures plus, type 1
epilepsy, generalized, with febrile seizures plus, type 2
epilepsy, generalized, with febrile seizures plus, type 3
epilepsy, generalized, with febrile seizures plus, type 4
epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to
epilepsy, generalized, with febrile seizures plus, type 6
epilepsy, generalized, with febrile seizures plus, type 7
epilepsy, hot water
epilepsy, idiopathic generalized, 10
epilepsy, idiopathic generalized, susceptibility to 4
epilepsy, idiopathic generalized, susceptibility to, 1
epilepsy, idiopathic generalized, susceptibility to, 11
epilepsy, idiopathic generalized, susceptibility to, 2
epilepsy, idiopathic generalized, susceptibility to, 3
epilepsy, idiopathic generalized, susceptibility to, 6
epilepsy, idiopathic generalized, susceptibility to, 7
epilepsy, idiopathic generalized, susceptibility to, 9
epilepsy, idiopathic generalized, susceptibility to
epilepsy, idiopathic generalized, suscpetibility to, 12
epilepsy, juvenile absence, susceptibility to, 1
epilepsy, juvenile absence, susceptibility to, 2
epilepsy, juvenile myoclonic 3
epilepsy, juvenile myoclonic
epilepsy, juvenile myoclonic, susceptibility to, 5
epilepsy, juvenile myoclonic, susceptibility to, 6
epilepsy, juvenile myoclonic, susceptibility to, 8
epilepsy, juvenile myoclonic, susceptibility to
epilepsy, juvenile myoclonic, susceptiblity to, 9
epilepsy, myoclonic, adult familial
epilepsy, myoclonic, familial adult
epilepsy, nocturnal frontal lobe, 1
epilepsy, nocturnal frontal lobe, 3
epilepsy, nocturnal frontal lobe, 5
epilepsy, nocturnal frontal lobe, type 2
epilepsy, nocturnal frontal lobe, type 4
epilepsy, partial, with pericentral spikes
epilepsy, progressive myoclonic 1a (unverricht and lundborg)
epilepsy, progressive myoclonic 1b
epilepsy, progressive myoclonic 2a (lafora)
epilepsy, progressive myoclonic 2b (lafora)
epilepsy, progressive myoclonic 3, with or without intracellular inclusions
epilepsy, progressive myoclonic 4, with or without renal failure
epilepsy, progressive myoclonic 5
epilepsy, progressive myoclonic 6
epilepsy, pyridoxine-dependent
epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp
epilepsy, x-linked, with variable learning disabilities and behavior disorders
epileptic encephalopathy, childhood-onset
epileptic encephalopathy, early infantile, 10
epileptic encephalopathy, early infantile, 11
epileptic encephalopathy, early infantile, 12
epileptic encephalopathy, early infantile, 13
epileptic encephalopathy, early infantile, 14
epileptic encephalopathy, early infantile, 15
epileptic encephalopathy, early infantile, 16
epileptic encephalopathy, early infantile, 17
epileptic encephalopathy, early infantile, 18
epileptic encephalopathy, early infantile, 1
epileptic encephalopathy, early infantile, 2
epileptic encephalopathy, early infantile, 3
epileptic encephalopathy, early infantile, 4
epileptic encephalopathy, early infantile, 5
epileptic encephalopathy, early infantile, 7
epileptic encephalopathy, early infantile, 8
epileptic encephalopathy, early infantile, 9
epilespy, generalized, with febrile seizures plus, type 8
epiphyseal dysplasia, multiple 1
epiphyseal dysplasia, multiple, 2
epiphyseal dysplasia, multiple, 3
epiphyseal dysplasia, multiple, 4
epiphyseal dysplasia, multiple, 5
epiphyseal dysplasia, multiple, 6
epiphyseal dysplasia, multiple, with myopathy
epiphyseal dysplasia, multiple, with myopia and deafness
episodic ataxia, type 2
episodic ataxia, type 3
episodic ataxia, type 5
episodic ataxia, type 6
episodic ataxia, type 7
episodic ataxia/myokymia syndrome
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic muscle weakness, x-linked
episodic pain syndrome, familial, 2
episodic pain syndrome, familial, 3
episodic pain syndrome, familial
epsilon-trimethyllysine hydroxylase deficiency
epstein syndrome
erythermalgia, primary
erythremias, alpha-
erythremias, beta-
erythrocyte lactate transporter defect
erythrocytosis due to bisphosphoglycerate mutase deficiency
erythrocytosis
erythrocytosis, familial, 1
erythrocytosis, familial, 2
erythrocytosis, familial, 3
erythrocytosis, familial, 4
erythrocytosis, somatic
erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige
erythrokeratodermia variabilis et progressiva
erythrokeratodermia variabilis with erythema gyratum repens
escobar syndrome
esophageal cancer, alcohol-related, susceptibility to
esophageal cancer, somatic
esophageal cancer
esophageal carcinoma, somatic 133239
esophageal carcinoma, somatic
esophageal squamous cell carcinoma
esophagitis, eosinophilic, 1
esophagitis, eosinophilic, 2
essential tremor, susceptibility to
estrogen resistance
ethylmalonic encephalopathy
ewing sarcoma
exfoliation syndrome, susceptibility to
exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like
exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
exostoses, multiple, type 1
exostoses, multiple, type 2
exostoses, multiple, type 3
exudative vitreoretinopathy 4
exudative vitreoretinopathy 5
exudative vitreoretinopathy, x-linked
exudative vitreoretinopathy-3
exudative vitreoretinopathy
ezetimibe, nonresponse to
fabry disease, cardiac variant
fabry disease
facial clefting, oblique, 1
facial paresis, hereditary congenital, 3
facial paresis, hereditary congenital
facioscapulohumeral muscular dystrophy 1
factor v and factor viii, combined deficiency of
factor v deficiency
factor vii deficiency
factor x deficiency
factor xi deficiency, autosomal dominant
factor xi deficiency, autosomal recessive
factor xii deficiency
factor xiiia deficiency
factor xiiib deficiency
failure of tooth eruption, primary
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial mediterranean fever, ad
familial mediterranean fever, ar
fanconi anemia, complementation group a
fanconi anemia, complementation group b
fanconi anemia, complementation group c
fanconi anemia, complementation group d1
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 j
fanconi anemia, complementation group l
fanconi anemia, complementation group m
fanconi anemia, complementation group n
fanconi anemia, complementation group o
fanconi anemia, complementation group p
fanconi anemia, complementation group q
fanconi renotubular syndrome 1
fanconi renotubular syndrome 2
fanconi renotubular syndrome 3
fanconi-bickel syndrome
farber lipogranulomatosis
fascioscapulohumeral muscular dystrophy 2, digenic
fasting insulin level quantitative trait locus 1
fasting plasma glucose level qtl 1
fasting plasma glucose level qtl 2
fasting plasma glucose level qtl 3
fasting plasma glucose level qtl 4
fasting plasma glucose level qtl 5
fasting plasma glucose level qtl 6
fatty liver disease, nonalcoholic, susceptibility to, 1
fatty liver disease, nonalcoholic, susceptibility to, 2
fatty liver, acute, of pregnancy
favism
fazio-londe disease
febrile seizures, familial, 11
febrile seizures, familial, 3a
febrile seizures, familial, 3b
febrile seizures, familial, 4
febrile seizures, familial, 8
febrile seizures, familial
fechtner syndrome
feingold syndrome 2
feingold syndrome
fertile eunuch syndrome
fetal akinesia deformation sequence
fetal hemoglobin qtl5
fetal hemoglobin quantitative trait locus 1
fetal hemoglobin quantitative trait locus 2
fetal hemoglobin quantitative trait locus 3
fetal hemoglobin quantitative trait locus 4
fetal hydantoin syndrome
fg syndrome 2
fg syndrome 3
fg syndrome 4
fg syndrome 5
fibrocalculous pancreatic diabetes, susceptibility to
fibrochondrogenesis 2
fibrochondrogenesis
fibrodysplasia ossificans progressiva
fibromatosis, gingival
fibrosis of extraocular muscles, congenital, 1
fibrosis of extraocular muscles, congenital, 2
fibrosis of extraocular muscles, congenital, 3a
fibrosis of extraocular muscles, congenital, 3b
fibrosis of extraocular muscles, congenital, 3c
fils syndrome
fish-eye disease
fleck retina, familial benign
fletcher factor deficiency
floating-harbor syndrome
focal cortical dysplasia, taylor balloon cell type
focal dermal hypoplasia
focal facial dermal dysplasia 3, setleis type
focal facial dermal dysplasia 4
folate malabsorption, hereditary
follicle-stimulating hormone deficiency, isolated
follicular lymphoma, susceptibility to, 1
forebrain defects
forsythe-wakeling syndrome
foveal hyperplasia
foveal hypoplasia and anterior segment dysgenesis
foveomacular dystrophy, adult-onset, with choroidal neovascularization
fragile x syndrome
fragile x tremor/ataxia syndrome
frank-ter haar syndrome
fraser syndrome
frasier syndrome
friedreich ataxia 2
friedreich ataxia with retained reflexes
friedreich ataxia
frontometaphyseal dysplasia
frontonasal dysplasia 1
frontonasal dysplasia 2
frontonasal dysplasia 3
frontotemporal lobar degeneration with ubiquitin-positive inclusions
frontotemporal lobar degeneration, tardbp-related
fructose intolerance
fructose-1,6-bidphosphatase deficiency
fructosuria
fucosidosis
fucosyltransferase 6 deficiency
fuhrmann syndrome
fumarase deficiency
fundus albipunctatus
fundus flavimaculatus
gaba-transaminase deficiency
galactokinase deficiency with cataracts
galactose epimerase deficiency
galactosemia
galactosialidosis
gallbladder disease 1
gallbladder disease 2
gallbladder disease 3
gallbladder disease 4
gamma-glutamyltransferase, familial high serum
gapo syndrome
gardner syndrome
gastric cancer risk after h. pylori infection
gastric cancer, familial diffuse, with or without cleft lip and/or palate
gastric cancer, somatic
gastroesophageal reflux
gastrointestinal stromal tumor, familial
gastrointestinal stromal tumor, somatic
gastrointestinal stromal tumor
gaucher disease, atypical
gaucher disease, perinatal lethal
gaucher disease, type i, 230800
gaucher disease, type iiic
gaucher disease, type iii
gaucher disease, type ii
gaze palsy, horizontal, with progressive scoliosis
geleophysic dysplasia 1
geleophysic dysplasia 2
gene expression, variation in, qtl
generalized epilepsy and paroxysmal dyskinesia
geniospasm
genitopatellar syndrome
germ cell tumors
geroderma osteodysplasticum
gerstmann-straussler disease
ghosal hematodiaphyseal syndrome
giant axonal neuropathy-1
giant platelet disorder, isolated
gigantism due to ghrf hypersecretion
gilbert syndrome
gilles de la tourette syndrome, susceptibility to
gillespie syndrome
gitelman syndrome
glanzmann thrombasthenia
glass syndrome
glaucoma 1, open angle, 1o
glaucoma 1, open angle, e
glaucoma 1, open angle, f
glaucoma 1, open angle, g
glaucoma 1, open angle, h
glaucoma 1, open angle, i
glaucoma 1, open angle, m
glaucoma 1, open angle, p
glaucoma 1a, primary open angle
glaucoma 1b, primary open angle, adult onset,
glaucoma 1c, primary open angle
glaucoma 1d, primary open angle
glaucoma 1k, primary open angle, juvenile-onset
glaucoma 3, primary congenital, c
glaucoma 3, primary congenital, d
glaucoma 3, primary infantile, b
glaucoma 3a, primary open angle, congenital, juvenile, or adult onset
glaucoma, normal tension, susceptibility to
glaucoma, primary open angle, juvenile-onset
glioblastoma 3
glioblastoma, somatic
glioma susceptibility 1
glioma susceptibility 2
glioma susceptibility 4
glioma susceptibility 5
glioma susceptibility 6
glioma susceptibility 7
glioma susceptibility 8
glioma, susceptibility to, somatic
globozoospermia
glomerulocystic kidney disease with hyperuricemia and isosthenuria
glomerulopathy with fibronectin deposits 1
glomerulopathy with fibronectin deposits 2
glomerulosclerosis, focal segmental, 1
glomerulosclerosis, focal segmental, 2
glomerulosclerosis, focal segmental, 3
glomerulosclerosis, focal segmental, 4, susceptibility to
glomerulosclerosis, focal segmental, 5
glomerulosclerosis, focal segmental, 6
glomuvenous malformations
glucocorticoid deficiency 2
glucocorticoid deficiency 3
glucocorticoid deficiency 4
glucocorticoid deficiency, due to acth unresponsiveness
glucocorticoid therapy, response to
glucose/galactose malabsorption
glut1 deficiency syndrome 1
glut1 deficiency syndrome 2
glutamate formiminotransferase deficiency
glutamine deficiency, congenital
glutaric acidemia iia
glutaric acidemia iib
glutaric acidemia iic
glutaric aciduria iii
glutaricaciduria, type i
glutathione synthetase deficiency
glutathioninuria
glycerol kinase deficiency
glycerol quantitative trait locus
glycine encephalopathy
glycine n-methyltransferase deficiency
glycogen storage disease 0, muscle
glycogen storage disease ia
glycogen storage disease ib
glycogen storage disease ic
glycogen storage disease iiia
glycogen storage disease iiib
glycogen storage disease ii
glycogen storage disease iv
glycogen storage disease ixc
glycogen storage disease of heart, lethal congenital
glycogen storage disease vii
glycogen storage disease vi
glycogen storage disease xiii
glycogen storage disease xii
glycogen storage disease xiv
glycogen storage disease xi
glycogen storage disease xv
glycogen storage disease x
glycogen storage disease, type 0
glycogen storage disease, type ixa1
glycogen storage disease, type ixa2
glycoprotein ia deficiency
glycosylphosphatidylinositol deficiency
glyoxalase ii deficiency
gm1-gangliosidosis, type iii
gm1-gangliosidosis, type ii
gm1-gangliosidosis, type i
gm2-gangliosidosis, ab variant
gm2-gangliosidosis, several forms
gnathodiaphyseal dysplasia
goeminne tkcr syndrome
goiter, familial, due to ttf-1 defect
goiter, multinodular 1, with or without sertoli-leydig cell tumors
goiter, multinodular
goldberg-shprintzen megacolon syndrome
gonadal dysgenesis, xy female type
gout susceptibility 4
gout, prps-related
gracile bone dysplasia
gracile syndrome
graft-versus-host disease, protection against
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii
graves disease, susceptibility to, 1
graves disease, susceptibility to, 2
graves disease, susceptibility to, 3
graves disease, susceptibility to, 4
graves disease, susceptibility to, x-linked
gray platelet syndrome
greig cephalopolysyndactyly syndrome
griscelli syndrome, type 1
griscelli syndrome, type 2
griscelli syndrome, type 3
growth hormone deficiency with pituitary anomalies
growth hormone deficiency, isolated, type ia
growth hormone deficiency, isolated, type ib
growth hormone deficiency, isolated, type ii
growth hormone insensitivity with immunodeficiency
growth retardation with deafness and mental retardation due to igf1 deficiency
growth retardation, developmental delay, coarse facies, and early death
gustavson syndrome
guttmacher syndrome
gyrate atrophy of choroid and retina with or without ornithinemia
h. pylori infection, susceptibility to
haddad syndrome
hailey-hailey disease
haim-munk syndrome
hair morphology 1, hair thickness
hair, curly
hairy ears, y-linked
hajdu-cheney syndrome
hamamy syndrome
hand-foot-uterus syndrome
handedness
hangover, susceptibility to
harderoporphyria
harp syndrome
hartnup disorder
hartsfield syndrome
hashimoto thyroiditis
hawkinsinuria
hay-wells syndrome
hdl deficiency, type 2
hdl response to hormone replacement, augmented
hearing loss, cisplatin-induced, susceptibility to
heart block, nonprogressive
heart block, progressive, type ia
heart-hand syndrome, slovenian type
heinz body anemias, alpha-
heinz body anemias, beta-
heinz body anemia
hellp syndrome, maternal, of pregnancy
hem skeletal dysplasia
hemangioblastoma, cerebellar, somatic
hemangioma, capillary infantile, somatic
hemangioma, capillary infantile, susceptibility to
hematocrit/hemoglobin quantitative trait locus 1
hematocrit/hemoglobin quantitative trait locus 2
hematocrit/hemoglobin quantitative trait locus 3
hematuria, benign familial
hematuria, familial benign
heme oxygenase-1 deficiency
hemifacial microsomia
hemihypertrophy
hemochromatosis, type 2a
hemochromatosis, type 2b
hemochromatosis, type 3
hemochromatosis, type 4
hemochromatosis, type 5
hemochromatosis
hemoglobin h disease, nondeletional
hemolytic anemia due to adenylate kinase deficiency
hemolytic anemia due to g6pd deficiency
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
hemolytic anemia due to glutathione peroxidase deficiency
hemolytic anemia due to glutathione reductase deficiency
hemolytic anemia due to glutathione synthetase deficiency
hemolytic anemia due to hexokinase deficiency
hemolytic anemia due to phosphofructokinase deficiency
hemolytic anemia due to triosephosphate isomerase deficiency
hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
hemolytic uremic syndrome, atypical, susceptibility to, 1
hemolytic uremic syndrome, atypical, susceptibility to, 2
hemolytic uremic syndrome, atypical, susceptibility to, 3
hemolytic uremic syndrome, atypical, susceptibility to, 4
hemolytic uremic syndrome, atypical, susceptibility to, 5
hemolytic uremic syndrome, atypical, susceptibility to, 6
hemolytic uremic syndrome, atypical, susceptibility to
hemophagocytic lymphohistiocytosis, familial, 2
hemophagocytic lymphohistiocytosis, familial, 3
hemophagocytic lymphohistiocytosis, familial, 4
hemophagocytic lymphohistiocytosis, familial, 5
hemophagocytic lymphohistiocytosis, familial
hemophilia a
hemophilia b
hemorrhage, intracerebral, susceptibility to
hemorrhagic destruction of the brain, subependymal calcification, and cataracts
hemorrhagic diathesis due to \'antithrombin\' pittsburgh
hemosiderosis, systemic, due to aceruloplasminemia
hennekam lymphangiectasia-lymphedema syndrome
hepatic adenoma, somatic
hepatic failure, early onset, and neurologic disorder
hepatic fibrosis susceptibility due to schistosoma mansoni infection
hepatic lipase deficiency
hepatic venoocclusive disease with immunodeficiency
hepatitic c virus, susceptibility to
hepatitis b virus infection, susceptibility to
hepatitis b virus, susceptibility to
hepatitis c virus infection, response to therapy of
hepatitis c virus, resistance to
hepatitis c virus, response to therapy of
hepatoblastoma, somatic
hepatocellular cancer, somatic
hepatocellular carcinoma
hepatocellular carcinoma, childhood type
hepatocellular carcinoma, somatic
hereditary motor and sensory neuropathy v
hereditary motor and sensory neuropathy vi
hereditary motor and sensory neuropathy, proximal type
hereditary motor and sensory neuropathy, type iic
hereditary persistence of alpha-fetoprotein
hereditary persistence of fetal hemoglobin
hermansky-pudlak syndrome 1
hermansky-pudlak syndrome 2
hermansky-pudlak syndrome 3
hermansky-pudlak syndrome 4
hermansky-pudlak syndrome 5
hermansky-pudlak syndrome 6
hermansky-pudlak syndrome 7
hermansky-pudlak syndrome 8
hermansky-pudlak syndrome 9
hernia, congenital diaphragmatic 1
hernia, congenital diaphragmatic 2
herpes simplex encephalitis, susceptibility to, 1
herpes simplex encephalitis, susceptibility to, 2 613002
herpes simplex encephalitis, susceptibility to, 3
heterotaxy, visceral, 1, x-linked 306955
heterotaxy, visceral, 2, autosomal
heterotaxy, visceral, 3, autosomal
heterotaxy, visceral, 4, autosomal
heterotaxy, visceral, 5
heterotaxy, visceral, 6, autosomal recessive
heterotopia, periventricular, ed variant
heterotopia, periventricular
hex a pseudodeficiency
hfe hemochromatosis, modifier of
high density lipoprotein cholesterol level qtl 1
high density lipoprotein cholesterol level qtl 10
high density lipoprotein cholesterol level qtl 11
high density lipoprotein cholesterol level qtl 12
high density lipoprotein cholesterol level qtl 2
high density lipoprotein cholesterol level qtl 4
high density lipoprotein cholesterol level qtl 5
high density lipoprotein cholesterol level qtl 8
high density lipoprotein cholesterol level qtl 9
high density lipoprotein cholesterol level qtl14
high density lipoprotein cholesterol, low serum, 3
high density lipoprotien cholesterol level qtl6
high molecular weight kininogen deficiency
hip dysplasia, beukes type
hirschsprung disease, cardiac defects, and autonomic dysfunction
hirschsprung disease, susceptibility to, 1
hirschsprung disease, susceptibility to, 2
hirschsprung disease, susceptibility to, 3
hirschsprung disease, susceptibility to, 4
hirschsprung disease, susceptibility to, 5
hirschsprung disease, susceptibility to, 6
hirschsprung disease, susceptibility to, 7
hirschsprung disease, susceptibility to, 8
hirschsprung disease, susceptibility to, 9
histidinemia
histiocytoma, angiomatoid fibrous, somatic
histiocytosis-lymphadenopathy plus syndrome
hiv infection, resistance to
hiv infection, susceptibility/resistance to
hiv type 1, susceptibility to
hiv-1 disease, delayed progression of
hiv-1 disease, rapid progression of
hiv-1 viremia, susceptibility to
hiv-1, resistance to
hiv-1, susceptibility to
hiv/aids, susceptibility to
hiv1 infection, resistance to
hiv1, resistance to
hmg-coa lyase deficiency
hmg-coa synthase-2 deficiency
hodgkin disease susceptibility, pseudoautosomal
hodgkin lymphoma
holocarboxylase synthetase deficiency
holoprosencephaly 11
holoprosencephaly-1
holoprosencephaly-2
holoprosencephaly-3
holoprosencephaly-4
holoprosencephaly-5
holoprosencephaly-6
holoprosencephaly-7
holoprosencephaly-8
holoprosencephaly-9
holt-oram syndrome
homocysteine plasma level
homocysteine, total plasma, elevated
homocystinuria due to mthfr deficiency
homocystinuria, b6-responsive and nonresponsive types
homocystinuria, cbld type, variant 1
homocystinuria-megaloblastic anemia, cbl e type
homocystinuria-megaloblastic anemia, cblg complementation type
homosexuality, male
hprt-related gout
human herpesvirus 8, susceptibility to
humoral hypercalcemia of malignancy
huntington disease-like 1
huntington disease-like 2
huntington disease-like 3
huntington disease
huriez syndrome
hutchinson-gilford progeria
hyaline fibromatosis syndrome
hydatidiform mole, recurrent, 2
hydatidiform mole
hydranencephaly with abnormal genitalia
hydrocephalus due to aqueductal stenosis
hydrocephalus with congenital idiopathic intestinal pseudoobstruction
hydrocephalus with hirschsprung disease
hydrocephalus, autosomal dominant
hydrocephalus, nonsyndromic, autosomal recessive 2
hydrocephalus, nonsyndromic, autosomal recessive
hydrolethalus syndrome 2
hydrolethalus syndrome
hyper-igd syndrome
hyper-ige recurrent infection syndrome, autosomal recessive
hyper-ige recurrent infection syndrome
hyperaldosteronism, familial, type ii
hyperaldosteronism, familial, type iii
hyperalphalipoproteinemia 2
hyperalphalipoproteinemia
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
hyperapobetalipoproteinemia, susceptibility to
hyperbilirubinemia, familial transcient neonatal
hyperbilirubinemia, rotor type, digenic
hyperbiliverdinemia
hypercalcemia, infantile
hypercalciuria, absorptive
hypercalciuria, absorptive, susceptibility to
hypercalciuric hypercalcemia
hypercarotenemia and vitamin a deficiency, autosomal dominant
hyperchlorhidrosis, isolated
hypercholanemia, familial
hypercholesterolemia, due to ligand-defective apo b
hypercholesterolemia, familial, 3
hypercholesterolemia, familial, autosomal recessive
hypercholesterolemia, familial, due to ldlr defect, modifier of
hypercholesterolemia, familial, modification of
hypercholesterolemia, familial
hypercholesterolemia, susceptibility to
hyperchylomicronemia, late-onset
hyperekplexia 2, autosomal recessive
hyperekplexia 3
hyperekplexia, hereditary 1, autosomal dominant or recessive
hypereosinophilic syndrome, idiopathic, resistant to imatinib
hyperferritinemia-cataract syndrome
hyperfibrinolysis, familial, due to increased release of plat
hyperglycinuria
hyperhidrosis palmaris et plantaris
hyperimmunoglobulin g1 syndrome
hyperinsulinemic hypoglycemia, familial, 1
hyperinsulinemic hypoglycemia, familial, 2
hyperinsulinemic hypoglycemia, familial, 3
hyperinsulinemic hypoglycemia, familial, 4
hyperinsulinemic hypoglycemia, familial, 5
hyperinsulinemic hypoglycemia, familial, 7
hyperinsulinism-hyperammonemia syndrome
hyperkalemic periodic paralysis, type 2
hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
hyperleucinemia-isoleucinemia or hypervalinemia
hyperlipidemia, combined
hyperlipidemia, familial combined, susceptibility to
hyperlipoproteinemia, type ib
hyperlipoproteinemia, type iii
hyperlysinemia
hypermanganesemia with dystonia, polycythemia, and cirrhosis
hypermethioninemia due to adenosine kinase deficiency
hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
hyperostosis, endosteal
hyperoxaluria, primary, type 1
hyperoxaluria, primary, type iii
hyperoxaluria, primary, type ii
hyperparathyroidism 3
hyperparathyroidism, familial primary
hyperparathyroidism, neonatal
hyperparathyroidism-jaw tumor syndrome
hyperphenylalaninemia, bh4-deficient, a
hyperphenylalaninemia, bh4-deficient, b
hyperphenylalaninemia, bh4-deficient, c
hyperphenylalaninemia, bh4-deficient, d
hyperphenylalaninemia, non-pku mild
hyperphosphatasia with mental retardation syndrome 1
hyperphosphatasia with mental retardation syndrome 2
hyperphosphatasia with mental retardation syndrome 3
hyperpigmentation, familial progressive, 2
hyperpigmentation, familial progressive
hyperproglucagonemia
hyperproinsulinemia, familial, with or without diabetes
hyperprolactinemia
hyperprolinemia, type ii
hyperprolinemia, type i
hyperproreninemia
hypersensitivity syndrome, carbamazepine-induced, susceptibility to
hypertelorism, preauricular sinus, punctal pits, and deafness
hypertension with brachydactyly
hypertension, diastolic, resistance to
hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
hypertension, essential
hypertension, essential, salt-sensitive
hypertension, essential, susceptibility to, 1
hypertension, essential, susceptibility to, 2
hypertension, essential, susceptibility to, 3
hypertension, essential, susceptibility to, 4
hypertension, essential, susceptibility to, 5
hypertension, essential, susceptibility to, 6
hypertension, essential, susceptibility to, 7
hypertension, essential, susceptibility to, 8
hypertension, essential, susceptibility to
hypertension, insulin resistance-related, susceptibility to
hypertension, pregnancy-induced
hypertension, salt-resistant
hypertension, salt-sensitive essential, susceptibility to
hypertension, susceptibility to
hypertensive nephropathy
hyperthyroidism, familial gestational
hyperthyroidism, nonautoimmune
hypertrichosis terminalis, generalized, with or without gingival hyperplasia
hypertrichosis universalis congenita, ambras type
hypertrichosis, congenital generalized
hypertrichotic osteochondrodysplasia
hypertriglyceridemia, susceptibility to
hypertriglyceridemia, transient infantile
hypertrophic osteoarthropathy, primary, autosomal recessive 1
hypertrophic osteoarthropathy, primary, autosomal recessive 2
hypertrypsinemia, neonatal
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
hyperuricemic nephropathy, familial juvenile 1
hyperuricemic nephropathy, familial juvenile 2
hyperuricemic nephropathy, familial juvenile
hypervalinemia or hyperleucine-isoleucinemia
hypoaldosteronism, congenital, due to cmo i deficiency
hypoaldosteronism, congenital, due to cmo ii deficiency
hypoalphalipoproteinemia
hypobetalipoproteinemia, familial, 2
hypobetalipoproteinemia
hypocalcemia, autosomal dominant 2
hypocalcemia, autosomal dominant, with bartter syndrome
hypocalcemia, autosomal dominant
hypocalciuric hypercalcemia, familial, type iii
hypocalciuric hypercalcemia, type ii
hypocalciuric hypercalcemia, type i
hypoceruloplasminemia, hereditary
hypochondroplasia
hypochromic microcytic anemia
hypofibrinogenemia, gamma type
hypoglycemia of infancy, leucine-sensitive
hypogonadism, hypergonadotropic
hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1)
hypogonadotropic hypogonadism 10 with or without anosmia
hypogonadotropic hypogonadism 11 with or without anosmia
hypogonadotropic hypogonadism 12 with or without anosmia
hypogonadotropic hypogonadism 13 with or without anosmia
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
hypogonadotropic hypogonadism 8 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypohaptoglobinemia
hypoinsulinemic hypoglycemia with hemihypertrophy
hypokalemic periodic paralysis, type 1
hypokalemic periodic paralysis, type 2
hypomagnesemia 1, intestinal
hypomagnesemia 3, renal
hypomagnesemia 4, renal
hypomagnesemia 5, renal, with ocular involvement
hypomagnesemia 6, renal
hypomagnesemia-2, renal
hypomyelination with brainstem and spinal cord involvement and leg spasticity
hypomyelination, global cerebral
hypoparathyroidism, autosomal dominant
hypoparathyroidism, autosomal recessive
hypoparathyroidism, familial isolated
hypoparathyroidism, sensorineural deafness, and renal dysplasia
hypoparathyroidism, x-linked
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatasia, adult
hypophosphatasia, childhood
hypophosphatasia, infantile
hypophosphatemic rickets and hyperparathyroidism
hypophosphatemic rickets with hypercalciuria
hypophosphatemic rickets, ar
hypophosphatemic rickets, autosomal dominant
hypophosphatemic rickets, autosomal recessive, 2
hypophosphatemic rickets, x-linked dominant
hypophosphatemic rickets
hypoplastic left heart syndrome 1
hypoplastic left heart syndrome 2
hypoproteinemia, hypercatabolic
hypoprothrombinemia
hypospadias 1, x-linked
hypospadias 2, x-linked
hypospadias 3, autosomal
hypospadias 4, x-linked, susceptibilty to
hypothalamic hamartomas, somatic
hypothryoidism, congenital, nongoitrous 4
hypothyroidism, autoimmune
hypothyroidism, central, and testicular enlargement
hypothyroidism, congenital nongoitrous, 5
hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
hypothyroidism, congenital, nongoitrous, 1 275200
hypothyroidism, congenital, nongoitrous, 6
hypothyroidism, congenital, nongoitrous
hypotonia-cystinuria syndrome
hypotrichosis 10
hypotrichosis 11
hypotrichosis 8
hypotrichosis 9
hypotrichosis and recurrent skin vesicles
hypotrichosis simplex of scalp 1
hypotrichosis simplex of the scalp 2
hypotrichosis simplex
hypotrichosis, congenital, with juvenile macular dystrophy
hypotrichosis, hereditary, marie unna type, 1
hypotrichosis, hereditary, marie unna type
hypotrichosis, localized, autosomal recessive 2
hypotrichosis, localized, autosomal recessive
hypotrichosis-lymphedema-telangiectasia syndrome
hypouricemia, renal, 2
hypouricemia, renal
hystrix-like ichthyosis with deafness
ichthyosis bullosa of siemens
ichthyosis histrix, curth-macklin type
ichthyosis prematurity syndrome
ichthyosis vulgaris
ichthyosis with confetti
ichthyosis with hypotrichosis
ichthyosis, autosomal recessive 4b (harlequin)
ichthyosis, congenital, autosomal recessive 10
ichthyosis, congenital, autosomal recessive 1
ichthyosis, congenital, autosomal recessive 2
ichthyosis, congenital, autosomal recessive 3
ichthyosis, congenital, autosomal recessive 4a
ichthyosis, congenital, autosomal recessive 5
ichthyosis, congenital, autosomal recessive 6
ichthyosis, congenital, autosomal recessive 7
ichthyosis, congenital, autosomal recessive 8
ichthyosis, congenital, autosomal recessive 9
ichthyosis, cyclic, with epidermolytic hyperkeratosis
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
ichthyosis, spastic quadriplegia, and mental retardation
ichthyosis, x-linked
ifap syndrome with or without bresheck syndrome
iga nephropathy, susceptibility to, 2
iga nephropathy, susceptibility to
ige levels qtl
ige, elevated level of
igg receptor i, phagocytic, familial deficiency of
igg2 deficiency, selective
image syndrome
iminoglycinuria, digenic
immunodeficiency 10
immunodeficiency 11
immunodeficiency 12
immunodeficiency 13
immunodeficiency 15
immunodeficiency 16
immunodeficiency 17, cd3 gamma deficient
immunodeficiency 18, scid variant
immunodeficiency 18
immunodeficiency 19
immunodeficiency 7, tcr-alpha/beta deficient
immunodeficiency 8
immunodeficiency 9
immunodeficiency due to casp8 deficiency
immunodeficiency due to defect in cd3-zeta
immunodeficiency due to defect in mapbp-interacting protein
immunodeficiency due to ficolin 3 deficiency
immunodeficiency due to purine nucleoside phosphorylase deficiency
immunodeficiency with hyper igm, type 5
immunodeficiency with hyper-igm, type 2
immunodeficiency with hyper-igm, type 3
immunodeficiency, common variable, 10
immunodeficiency, common variable, 1
immunodeficiency, common variable, 2
immunodeficiency, common variable, 3
immunodeficiency, common variable, 4
immunodeficiency, common variable, 5
immunodeficiency, common variable, 6
immunodeficiency, common variable, 7
immunodeficiency, common variable, 8, with autoimmunity
immunodeficiency, common variable, 9
immunodeficiency, isolated
immunodeficiency, primary, autosomal recessive, il21r-related
immunodeficiency, x-linked, with hyper-igm
immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia
immunodeficiency-centromeric instability-facial anomalies syndrome 1
immunodeficiency-centromeric instability-facial anomalies syndrome-2
immunodysregulation, polyendocrinopathy, and enteropathy, x-linked
immunoglobulin a deficiency 2
immunoglobulin a deficiency
impdh2 enzyme activity, variation in
inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2
inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 3
inclusion body myopathy, autosomal recessive
inclusion body myopathy-3
incontinentia pigmenti, type ii
increased responsiveness to growth hormone
infantile cerebellar-retinal degeneration
infantile liver failure syndrome 2
infantile neuroaxonal dystrophy 1
infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17, protection against
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 1
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 21
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 25, early onset, autosomal recessive
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 28, early onset, autosomal recessive
inflammatory bowel disease 3
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
inflammatory skin and bowel disease, neonatal
influenza, severe, susceptibility to
inosine triphosphatase deficiency
insensitivity to pain, channelopathy-associated
insensitivity to pain, congenital, with anhidrosis
insomnia
insomnia, fatal familial
insulin resistance, severe, digenic
insulin resistance, susceptibility to
insulin-like growth factor i, resistance to
insulinoma
intelligence qtl1
intelligence qtl3
interferon, alpha, deficiency
interleukin 1 receptor antagonist deficiency
interleukin 6, serum level of, qtl
interleukin-2 receptor, alpha chain, deficiency of
interleukin-6 receptor, soluble, serum level of, qtl
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
interstitial nephritis, karyomegalic
intervertebral disc disease, susceptibility to
intestinal atresia, multiple
intestinal pseudoobstruction, neuronal
intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to
intrinsic factor deficiency
invasive pneumococcal disease, recurrent isolated, 1
invasive pneumococcal disease, recurrent isolated, 2
irak4 deficiency
iridogoniodysgenesis, type 1
iridogoniodysgenesis, type 2
iris hypoplasia and glaucoma
iron-refractory iron deficiency anemia
ischemic stroke, susceptibility to
isobutyryl-coa dehydrogenase deficiency
isolated growth hormone deficiency due to defect in ghrf
isovaleric acidemia
ivic syndrome
jackson-weiss syndrome
jacobsen syndrome
jalili syndrome
jawad syndrome
jensen syndrome
jervell and lange-nielsen syndrome 2
jervell and lange-nielsen syndrome
johanson-blizzard syndrome
joubert syndrome 10
joubert syndrome 12
joubert syndrome 13
joubert syndrome 14
joubert syndrome 15
joubert syndrome 16
joubert syndrome 17
joubert syndrome 18
joubert syndrome 19
joubert syndrome 1
joubert syndrome 20
joubert syndrome 21
joubert syndrome 2
joubert syndrome 4
joubert syndrome 5
joubert syndrome 6
joubert syndrome 7
joubert syndrome 8
joubert syndrome 9
joubert syndrome-3
junior blood group system
juvenile polyposis syndrome, infantile form
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
kabuki syndrome 1
kabuki syndrome 2
kahrizi syndrome
kala-azar, susceptibility to, 1
kala-azar, susceptibility to, 2
kala-azar, susceptibility to, 3
kallikrein, decreased urinary activity of
kanzaki disease
kaposi sarcoma, susceptibility to
kappa light chain deficiency
kawasaki disease, susceptibility to
kbg syndrome
kenny-caffey syndrome, type 2
kenny-caffey syndrome-1
keratitis-ichthyosis-deafness syndrome
keratitis
keratoconus 1
keratoconus 2
keratoconus 3
keratoconus 4
keratoconus 5
keratoconus 6
keratoconus 7
keratoconus 8
keratoderma, palmoplantar, punctate type 3
keratoderma, palmoplantar, punctate type ia
keratoderma, palmoplantar, punctate type ib
keratoderma, palmoplantar, with deafness
keratolytic winter erythema
keratosis follicularis spinulosa decalvans, x-linked
keratosis follicularis spinulosa decalvans
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
keratosis palmoplantaris striata i, ad
keratosis palmoplantaris striata iii
keratosis palmoplantaris striata ii
keratosis, seborrheic, somatic
keutel syndrome
kindler syndrome
king-denborough syndrome
kininogen deficiency
kleefstra syndrome
klippel-feil syndrome 1, autosomal dominant
klippel-feil syndrome 2, autosomal recessive
klippel-feil syndrome 2
klippel-feil syndrome 3, autosomal dominant
klippel-trenaunay-weber syndrome
kniest dysplasia
knobloch syndrome, type 1
kohlschutter-tonz syndrome
kondoh syndrome
koolen-de vries syndrome
kowarski syndrome
krabbe disease, atypical
krabbe disease
kufor-rakeb syndrome
kuru, susceptibility to
kyphoscoliosis 1
l-2-hydroxyglutaric aciduria
l-ferritin deficiency, dominant and recessive
lactase deficiency, congenital
lactase persistance/nonpersistance
lactate dehydrogenase-b deficiency
lacticacidemia due to pdx1 deficiency
ladd syndrome
laing distal myopathy
langer mesomelic dysplasia
laron dwarfism
larsen syndrome
larsen-like syndrome
laryngeal adductor paralysis
laryngoonychocutaneous syndrome
lathosterolosis
lchad deficiency
ldl cholesterol level qtl2
lead poisoning, susceptibility to
lean body mass qtl 1
leanness, inherited
leber congenital amaurosis 10
leber congenital amaurosis 11
leber congenital amaurosis 12
leber congenital amaurosis 13
leber congenital amaurosis 14
leber congenital amaurosis 15
leber congenital amaurosis 16
leber congenital amaurosis 17
leber congenital amaurosis 1
leber congenital amaurosis 2
leber congenital amaurosis 3
leber congenital amaurosis 4
leber congenital amaurosis 5
leber congenital amaurosis 6
leber congenital amaurosis 7
leber congenital amaurosis 8
leber congenital amaurosis 9
leber optic atrophy, susceptibility to
left ventricular noncompaction 1, with or without congenital heart defects
left ventricular noncompaction 10
left ventricular noncompaction 2
left ventricular noncompaction 3, with or without dilated cardiomyopathy
left ventricular noncompaction 4
left ventricular noncompaction 5
left ventricular noncompaction 6
left ventricular noncompaction 7
left ventricular noncompaction 8
left ventricular noncompaction 9
left-right axis malformations
legg-calve-perthes disease
legionaire disease, susceptibility to
legius syndrome
leigh syndrome due to cytochrome c oxidase deficiency
leigh syndrome due to mitochondrial complex 1 deficiency
leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome due to mitochondrial cox4 deficiency
leigh syndrome, due to cox deficiency
leigh syndrome, french-canadian type
leigh syndrome, x-linked
leigh syndrome
leiomyoma, uterine, somatic
leiomyomatosis and renal cell cancer
lenz-majewski hyperostotic dwarfism
leopard syndrome 1
leopard syndrome 2
leopard syndrome 3
leprechaunism
leprosy, paucibacillary type, susceptibility to
leprosy, protection against
leprosy, susceptibility to, 4
leprosy, susceptibility to, 5
leprosy, susceptibility to
leprosy, susceptiblity to, 6
leptin serum levels qtl1
leri-weill dyschondrosteosis
lesch-nyhan syndrome
lethal congenital contractural syndrome 2
lethal congenital contractural syndrome 3
lethal congenital contracture syndrome 1
lethal congenital contracture syndrome 4
lethal congenital contracture syndrome 5
leukemia, acute lymphoblastic
leukemia, acute lymphoblastic, somatic
leukemia, acute lymphoblastic, susceptibility to
leukemia, acute lymphoblastic, susceptibility to, 2
leukemia, acute lymphoblastic, susceptibility to, 3
leukemia, acute lymphocytic, susceptibility to, 1
leukemia, acute lymphocytic
leukemia, acute myeloblastic
leukemia, acute myelogenous
leukemia, acute myeloid, reduced survival in
leukemia, acute myeloid, somatic
leukemia, acute myeloid, susceptibility to
leukemia, acute myeloid, therapy-related
leukemia, acute myeloid, with eosinophilia
leukemia, acute myeloid
leukemia, acute myelomonocytic
leukemia, acute nonlymphocytic
leukemia, acute pre-b-cell
leukemia, acute promyelocytic, npm/rara type
leukemia, acute promyelocytic, numa/rara type
leukemia, acute promyelocytic, pl2f/rara type
leukemia, acute promyelocytic, pml/rara type
leukemia, acute promyelocytic, stat5b/rara type
leukemia, acute promyelocytic
leukemia, acute t-cell lymphoblastic
leukemia, acute t-cell
leukemia, chronic lymphocytic susceptibility to, 4
leukemia, chronic lymphocytic susceptibility to, 5
leukemia, chronic lymphocytic, susceptibility to, 1
leukemia, chronic lymphocytic, susceptibility to, 2
leukemia, chronic lymphocytic, susceptibility to, 3
leukemia, chronic myeloid
leukemia, juvenile myelomonocytic
leukemia, megakaryoblastic, with or without down syndrome, somatic
leukemia, myeloid/lymphoid or mixed-lineage
leukemia, philadelphia chromosome-positive, resistant to imatinib
leukemia, post-chemotherapy, susceptibility to
leukemia, t-cell acute lymphoblastic
leukemia, t-cell acute lymphoblastoid
leukemia, transient, of down syndrome
leukemia-1, t-cell acute lymphocytic
leukemia-2, t-cell acute lymphoblastic
leukemia/lymphoma, b-cell
leukemia/lymphoma, t-cell
leukocyte adhesion deficiency, type iii
leukocyte adhesion deficiency
leukodystrophy, adult-onset, autosomal dominant
leukodystrophy, hypomyelinating, 2
leukodystrophy, hypomyelinating, 3
leukodystrophy, hypomyelinating, 4
leukodystrophy, hypomyelinating, 5
leukodystrophy, hypomyelinating, 6
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
leukoencephalopathy with dystonia and motor neuropathy
leukoencephalopathy with metaphyseal chondrodysplasia
leukoencephalopathy with vanishing white matter
leukoencephalopathy, cystic, without megalencephaly
leukoencephalopathy, diffuse hereditary, with spheroids
leukoencephaly with vanishing white matter
leukotriene c4 synthase deficiency
levy-shanske syndrome
lewy body dementia, susceptibility to
leydig cell adenoma, somatic, with precocious puberty
leydig cell hypoplasia with hypergonadotropic hypogonadism
leydig cell hypoplasia with pseudohermaphroditism
lhermitte-duclos syndrome
li-fraumeni syndrome 3
li-fraumeni syndrome
liddle syndrome
liebenberg syndrome
lig4 syndrome
limb-girdle muscular dystrophy, type 1g
limb-mammary syndrome
lipase deficiency, combined
lipodystrophy, congenital generalized, type 1
lipodystrophy, congenital generalized, type 2
lipodystrophy, congenital generalized, type 3
lipodystrophy, congenital generalized, type 4
lipodystrophy, familial partial, 2
lipodystrophy, familial partial, type 3
lipodystrophy, familial partial, type 4
lipodystrophy, familial partial, type 5
lipodystrophy, partial, acquired, susceptibility to
lipoid adrenal hyperplasia
lipoma
lipoma, somatic
lipoprotein glomerulopathy
lipoprotein lipase deficiency
liposarcoma
lissencephaly 1
lissencephaly 2 (norman-roberts type)
lissencephaly 3
lissencephaly 4 (with microcephaly)
lissencephaly 5
lissencephaly, x-linked 2
lissencephaly, x-linked
liver failure, infantile, syndromic
liver failure, transient infantile
loeys-dietz syndrome, type 1a
loeys-dietz syndrome, type 1b
loeys-dietz syndrome, type 2a
loeys-dietz syndrome, type 2b
loeys-dietz syndrome, type 3
loeys-dietz syndrome, type 4
long qt syndrome 1, acquired, susceptibility to
long qt syndrome 12
long qt syndrome 13
long qt syndrome 1
long qt syndrome 2, acquired, susceptibility to
long qt syndrome 2
long qt syndrome 4
long qt syndrome 5
long qt syndrome 6
long qt syndrome 9
long qt syndrome, acquired, reduced susceptibility to
long qt syndrome-10
long qt syndrome-11
long qt syndrome-3
longevity 1
longevity 2
low density lipoprotein cholesterol level qtl 1
low density lipoprotein cholesterol level qtl 3
low density lipoprotein cholesterol level qtl6
low renin hypertension, susceptibility to
lowe syndrome
lpa deficiency, congenital
lujan-fryns syndrome
lumbar disc degeneration
lumbar disc disease, susceptibility to
lumbar disc herniation, susceptibility to
lung cancer susceptibility 2
lung cancer susceptibility 3
lung cancer susceptibility 4
lung cancer susceptibility 5
lung cancer susceptibility
lung cancer, protection against, in smokers
lung cancer, protection against
lung cancer, resistance to
lung cancer, somatic
lung cancer, susceptibility to
lung cancer
lupus nephritis, susceptibility to
luteinizing hormone resistance, female
lymphangioleiomyomatosis, somatic
lymphangioleiomyomatosis
lymphedema, hereditary i
lymphedema, hereditary, ib
lymphedema, hereditary, ic
lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
lymphedema-distichiasis syndrome
lymphocytic leukemia, acute t-cell
lymphoma, b-cell non-hodgkin, somatic
lymphoma, b-cell
lymphoma, diffuse large cell
lymphoma, follicular, somatic
lymphoma, malt, somatic
lymphoma, mantle cell
lymphoma, non-hodgkin, somatic
lymphoma, non-hodgkin
lymphoma, somatic
lymphoma/leukemia, b-cell, variant
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
lymphoproliferative syndrome, x-linked, 1
lymphoproliferative syndrome, x-linked, 2
lysinuric protein intolerance
lysosomal acid phosphatase deficiency
lysyl hydroxylase 3 deficiency
machado-joseph disease
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
macrocephaly, alopecia, cutis laxa, and scoliosis
macrocephaly, macrosomia, facial dysmorphism syndrome
macrocephaly/autism syndrome
macrocytic anemia, refractory, due to 5q deletion, somatic
macroglobulinemia, waldenstrom, somatic
macroglobulinemia, waldenstrom, susceptibility to, 1
macroglobulinemia, waldenstrom, susceptibility to, 2
macrostomia
macrothrombocytopenia and progressive sensorineural deafness
macrothrombocytopenia
macrothrombocytopenia, autosomal dominant, tubb1-related
macular corneal dystrophy
macular degeneration, age-related, 10
macular degeneration, age-related, 11
macular degeneration, age-related, 12
macular degeneration, age-related, 13, susceptibility to
macular degeneration, age-related, 14, reduced risk of
macular degeneration, age-related, 15, suscepbitility to
macular degeneration, age-related, 1
macular degeneration, age-related, 2
macular degeneration, age-related, 3
macular degeneration, age-related, 4
macular degeneration, age-related, 6
macular degeneration, age-related, 7
macular degeneration, age-related, 8
macular degeneration, age-related, 9
macular degeneration, age-related, neovascular type
macular degeneration, age-related, reduced risk of
macular degeneration, age-related, susceptibility to 5
macular degeneration, age-related
macular degeneration, juvenile
macular degeneration, x-linked atrophic
macular dystrophy
macular dystrophy, autosomal dominant, chromosome 6-linked
macular dystrophy, dominant cystoid
macular dystrophy, north carolina type
macular dystrophy, patterned
macular dystrophy, retinal, 2
macular dystrophy, retinal
macular dystrophy, vitelliform
maculopathy, bull's-eye
maculopathy, impg2-related
majeed syndrome
major affective disorder 1
major affective disorder 2
major affective disorder 3, early onset
major affective disorder 4
major affective disorder 5
major affective disorder 6
major affective disorder-7, susceptibility to
major affective disorder-8, susceptibility to
major affective disorder-9, susceptibility to
major depressive disorder 1
major depressive disorder 2
major depressive disorder and accelerated response to antidepressant drug treatment
major depressive disorder, response to citalopram therapy in
malaria, cerebral, reduced risk of
malaria, cerebral, susceptibility to
malaria, intensity of infection
malaria, mild, susceptibility to
malaria, protection against
malaria, resistance to
malaria, severe, resistance to
malaria, severe, susceptibility to
malaria, susceptibility to
malaria, vivax, protection against
male germ cell tumor
male germ cell tumor, somatic, 273300,
male infertility due to acrosin deficiency
male infertility
male pseudohermaphroditism due to defective lh
malignant fibrous histiocytoma
malignant hyperthermia susceptibility 1
malignant hyperthermia susceptibility 2
malignant hyperthermia susceptibility 3
malignant hyperthermia susceptibility 4
malignant hyperthermia susceptibility 5
malignant hyperthermia susceptibility 6
malignant melanoma, somatic
malignant mesothelioma, susceptibility to
malonyl-coa decarboxylase deficiency
malouf syndrome
mammary-digital-nail syndrome
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
mandibuloacral dysplasia with type b lipodystrophy
mandibuloacral dysplasia
mandibulofacial dysostosis, guion-almeida type
manitoba oculotrichoanal syndrome
mannosidosis, alpha-, types i and ii
mannosidosis, beta
maple syrup urine disease, mild variant
maple syrup urine disease, type ia
maple syrup urine disease, type ib
maple syrup urine disease, type ii
marfan syndrome
marinesco-sjogren syndrome
marshall syndrome
marshall-smith syndrome
martinez-frias syndrome
martsolf syndrome
masa syndrome
masp2 deficiency
mass syndrome
mast cell disease
mast syndrome
maturity-onset diabetes of the young 6
maturity-onset diabetes of the young, type 10
maturity-onset diabetes of the young, type 11
maturity-onset diabetes of the young, type ix
maturity-onset diabetes of the young, type viii
maturity-onset diabetes of the young, type vii
may-hegglin anomaly
mcardle disease
mccune-albright syndrome
mckusick-kaufman syndrome
mcleod syndrome with or without chronic granulomatous disease
meacham syndrome
mean platelet volume qtl1
mean platelet volume qtl2
mean platelet volume qtl3
mean platelet volume qtl4
mean platelet volume qtl5
mean platelet volume qtl6
meckel syndrome 10
meckel syndrome 1
meckel syndrome 2
meckel syndrome 3
meckel syndrome 4
meckel syndrome 5
meckel syndrome 6
meckel syndrome 7
meckel syndrome 8
meckel syndrome 9
meckel syndrome, type 11
meconium ileus in cystic fibrosis, susceptibility to
meconium ileus
mednik syndrome
medullary cystic kidney disease 1
medullary cystic kidney disease 2
medullary thyroid carcinoma, familial
medullary thyroid carcinoma
medulloblastoma, desmoplastic
medulloblastoma
meesmann corneal dystrophy
megakaryoblastic leukemia, acute
megalencephalic leukoencephalopathy with subcortical cysts 2a
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
megalencephalic leukoencephalopathy with subcortical cysts
megalencephaly, autosomal recessive
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
megaloblastic anemia due to dihydrofolate reductase deficiency
megaloblastic anemia-1, finnish type
megaloblastic anemia-1, norwegian type
megalocornea 1, x-linked 309300
mehmo syndrome
meier-gorlin syndrome 1
meier-gorlin syndrome 2
meier-gorlin syndrome 3
meier-gorlin syndrome 4
meier-gorlin syndrome 5
melanoma and neural system tumor syndrome
melanoma, cutaneous malignant, 1
melanoma, cutaneous malignant, 2
melanoma, cutaneous malignant, 3
melanoma, cutaneous malignant, 4
melanoma, cutaneous malignant, 5
melanoma, cutaneous malignant, 6
melanoma, cutaneous malignant, 7
melanoma, cutaneous malignant, 9
melanoma, cutaneous malignant, susceptibility to, 8
melanoma, desmoplastic neurotrophic
melanoma, malignant, somatic
melanoma, uveal, susceptibility to, 1
melanoma, uveal, susceptibility to, 2
meleda disease
melioidosis, susceptibilty to
melkersson-rosenthal syndrome
melnick-needles syndrome
melorheostosis with osteopoikilosis
membranous glomerulonephritis, antenatal
membranous nephropathy, susceptibility to
memory impairment, susceptibility to
memory, enhanced, qtl
menarche, age at, qtl
menarche, age at, qtl2
menarche, age at, qtl3
meningioma, familial, susceptibility to
meningioma, nf2-related, somatic
meningioma, radiation-induced
meningioma, sis-related
meningioma
menkes disease
menopause, natural, age at, qtl1
menopause, natural, age at, qtl2
menopause, natural, age at, qtl3
menopause, natural, age at, qtl4
mental health wellness-1
mental health wellness-2
mental retardation and microcephaly with pontine and cerebellar hypoplasia
mental retardation syndrome, x-linked, armfield type
mental retardation syndrome, x-linked, siderius type
mental retardation with language impairment and autistic features
mental retardation, anterior maxillary protrusion, and strabismus
mental retardation, autosomal dominant 10
mental retardation, autosomal dominant 11
mental retardation, autosomal dominant 12
mental retardation, autosomal dominant 13
mental retardation, autosomal dominant 14
mental retardation, autosomal dominant 15
mental retardation, autosomal dominant 16
mental retardation, autosomal dominant 17
mental retardation, autosomal dominant 18
mental retardation, autosomal dominant 19
mental retardation, autosomal dominant 1
mental retardation, autosomal dominant 21
mental retardation, autosomal dominant 22
mental retardation, autosomal dominant 2
mental retardation, autosomal dominant 3
mental retardation, autosomal dominant 4
mental retardation, autosomal dominant 5
mental retardation, autosomal dominant 6
mental retardation, autosomal dominant 7
mental retardation, autosomal dominant 8
mental retardation, autosomal dominant 9
mental retardation, autosomal recessive 10/20
mental retardation, autosomal recessive 12
mental retardation, autosomal recessive 13
mental retardation, autosomal recessive 14
mental retardation, autosomal recessive 15
mental retardation, autosomal recessive 16
mental retardation, autosomal recessive 18
mental retardation, autosomal recessive 19
mental retardation, autosomal recessive 1
mental retardation, autosomal recessive 23
mental retardation, autosomal recessive 24
mental retardation, autosomal recessive 25
mental retardation, autosomal recessive 27
mental retardation, autosomal recessive 28
mental retardation, autosomal recessive 29
mental retardation, autosomal recessive 2
mental retardation, autosomal recessive 30
mental retardation, autosomal recessive 31
mental retardation, autosomal recessive 32
mental retardation, autosomal recessive 33
mental retardation, autosomal recessive 34
mental retardation, autosomal recessive 35
mental retardation, autosomal recessive 36
mental retardation, autosomal recessive 38
mental retardation, autosomal recessive 39
mental retardation, autosomal recessive 3
mental retardation, autosomal recessive 40
mental retardation, autosomal recessive 41
mental retardation, autosomal recessive 5
mental retardation, autosomal recessive 7
mental retardation, autosomal recessive, 37
mental retardation, autosomal recessive, 6
mental retardation, autosomal recessive, 9/26
mental retardation, autosomal recessive
mental retardation, fra12a type
mental retardation, severe, with spasticity and tapetoretinal degeneration
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
mental retardation, truncal obesity, retinal dystrophy, and micropenis
mental retardation, with or without nystagmus
mental retardation, x-linked 14
mental retardation, x-linked 17/31, microduplication
mental retardation, x-linked 19
mental retardation, x-linked 1
mental retardation, x-linked 2
mental retardation, x-linked 20
mental retardation, x-linked 21/34
mental retardation, x-linked 23
mental retardation, x-linked 29 and others
mental retardation, x-linked 29
mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type )
mental retardation, x-linked 30/47
mental retardation, x-linked 41
mental retardation, x-linked 42
mental retardation, x-linked 45
mental retardation, x-linked 46
mental retardation, x-linked 49
mental retardation, x-linked 50
mental retardation, x-linked 52
mental retardation, x-linked 53
mental retardation, x-linked 58
mental retardation, x-linked 63
mental retardation, x-linked 72
mental retardation, x-linked 77
mental retardation, x-linked 78
mental retardation, x-linked 81
mental retardation, x-linked 82
mental retardation, x-linked 84
mental retardation, x-linked 89
mental retardation, x-linked 90
mental retardation, x-linked 91
mental retardation, x-linked 92
mental retardation, x-linked 93
mental retardation, x-linked 94
mental retardation, x-linked 95
mental retardation, x-linked 96
mental retardation, x-linked 97
mental retardation, x-linked 98
mental retardation, x-linked 9
mental retardation, x-linked syndromic 10
mental retardation, x-linked syndromic 16
mental retardation, x-linked syndromic 7
mental retardation, x-linked syndromic, abidi type
mental retardation, x-linked syndromic, christianson type
mental retardation, x-linked syndromic, fried type
mental retardation, x-linked syndromic, lubs type
mental retardation, x-linked syndromic, nascimento-type
mental retardation, x-linked syndromic, raymond type
mental retardation, x-linked syndromic, shashi type
mental retardation, x-linked syndromic, turner type
mental retardation, x-linked, fraxe type
mental retardation, x-linked, snyder-robinson type
mental retardation, x-linked, syndromic 12
mental retardation, x-linked, syndromic 13
mental retardation, x-linked, syndromic 14
mental retardation, x-linked, syndromic 15 (cabezas type)
mental retardation, x-linked, syndromic 17
mental retardation, x-linked, syndromic 32
mental retardation, x-linked, syndromic 9
mental retardation, x-linked, syndromic, chudley-schwartz type,
mental retardation, x-linked, syndromic, claes-jensen type
mental retardation, x-linked, syndromic, hedera type
mental retardation, x-linked, syndromic, martin-probst type
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
mental retardation, x-linked, with isolated growth hormone deficiency
mental retardation, x-linked, with short stature
mental retardation, x-linked
mental retardation-hypotonic facies syndrome, x-linked
mental retardation-skeletal dysplasia
mephenytoin poor metabolizer
merkel cell carcinoma, somatic
mesomelia-synostoses syndrome
mesomelic dysplasia, kantaputra type
mesothelioma, somatic
metabolic syndrome, protection against
metacarpal 4-5 fusion
metachondromatosis
metachromatic leukodystrophy due to sap-b deficiency
metachromatic leukodystrophy
metaphyseal anadysplasia 1
metaphyseal anadysplasia 2
metaphyseal chondrodysplasia, murk jansen type
metaphyseal chondrodysplasia, schmid type
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
metaphyseal dysplasia without hypotrichosis
metastasis efficiency, modification of
metatropic dysplasia
methemoglobinemia, type ii
methemoglobinemia, type iv
methemoglobinemia, type i
methemoglobinemias, alpha-
methemoglobinemias, beta-
methionine adenosyltransferase deficiency, autosomal recessive
methylmalonate semialdehyde dehydrogenase deficiency
methylmalonic aciduria and homocystinuria, cblc type
methylmalonic aciduria and homocystinuria, cbld type
methylmalonic aciduria and homocystinuria, cblf type
methylmalonic aciduria and homocystinuria, cblj type
methylmalonic aciduria due to transcobalamin receptor defect
methylmalonic aciduria, cbld type, variant 2
methylmalonic aciduria, mut(0) type
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type
methylmalonic aciduria, vitamin b12-responsive
methylmalonyl-coa epimerase deficiency
mevalonic aciduria
mhc class ii deficiency, complementation group b
microcephalic osteodysplastic primordial dwarfism, type ii
microcephalic osteodysplastic primordial dwarfism, type i
microcephaly 1, primary, autosomal recessive
microcephaly 10, primary, autosomal recessive
microcephaly 11, primary, autosomal recessive
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
microcephaly 3, primary, autosomal recessive
microcephaly 4, primary, autosomal recessive
microcephaly 5, primary, autosomal recessive
microcephaly 6, primary, autosomal recessive
microcephaly 7, primary, autosomal recessive
microcephaly 8, primary, autosomal recessive
microcephaly 9, primary, autosomal recessive
microcephaly and chorioretinopathy with or without mental retardation
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly, amish type
microcephaly, epilepsy, and diabetes syndrome
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
microcephaly, postnatal progressive, with seizures and brain atrophy
microcephaly-capillary malformation syndrome
microcoria, congenital
microcornea, myopic chorioretinal atrophy, and telecanthus
microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
microhydranencephaly
microphthalmia with cataract 1
microphthalmia with cataract 2
microphthalmia with coloboma 1
microphthalmia with coloboma 2
microphthalmia with coloboma 3
microphthalmia with coloboma 5
microphthalmia with coloboma 6, digenic
microphthalmia with coloboma 6
microphthalmia with limb anomalies
microphthalmia, isolated 1
microphthalmia, isolated 2
microphthalmia, isolated 3
microphthalmia, isolated 4
microphthalmia, isolated 5
microphthalmia, isolated 6
microphthalmia, isolated 7
microphthalmia, isolated 8
microphthalmia, isolated, with coloboma 7
microphthalmia, isolated, with coloboma 8
microphthalmia, isolated, with coloboma 9
microphthalmia, syndrome 1
microphthalmia, syndromic 1
microphthalmia, syndromic 11
microphthalmia, syndromic 12
microphthalmia, syndromic 13
microphthalmia, syndromic 2
microphthalmia, syndromic 3
microphthalmia, syndromic 4
microphthalmia, syndromic 5
microphthalmia, syndromic 6
microphthalmia, syndromic 7
microphthalmia, syndromic 8
microphthalmia, syndromic 9
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
microtia with nasolacrimal duct imperforation and eye coloboma
microtia with or without hearing impairment (ad)
microtia, hearing impairment, and cleft palate (ar)
microvascular complications of diabetes 1
microvascular complications of diabetes 2
microvascular complications of diabetes 3
microvascular complications of diabetes 4
microvascular complications of diabetes 5
microvascular complications of diabetes 6
microvascular complications of diabetes 7
microvillus inclusion disease
migraine with aura, susceptibility to, 7
migraine with aura, susceptibility to, 9
migraine with or without aura, susceptibility to
migraine with or without aura, susceptibility to, 1
migraine with or without aura, susceptibility to, 3
migraine with or without aura, susceptibility to, 5
migraine without aura, susceptibility to, 4
migraine without aura, susceptibility to
migraine, familial basilar
migraine, familial hemiplegic
migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
migraine, familial hemiplegic, 1
migraine, familial hemiplegic, 2
migraine, familial hemiplegic, 3
migraine, familial typical, susceptibility to, 2
migraine, resistance to
migraine, susceptibility to, 8
migraine, susceptibility to
migraine, with or without aura, susceptibility to, 12
migraine, with or without aura, susceptibility to, 13
miles-carpenter syndrome
miller syndrome
miller-dieker lissencephaly syndrome
minicore myopathy with external ophthalmoplegia
mirror movements 1
mirror movements 2
mirror-image polydactyly
mismatch repair cancer syndrome
mitochondrial complex (atp synthase) deficiency, nuclear type 4
mitochondrial complex 1 deficiency
mitochondrial complex i deficiency
mitochondrial complex ii deficiency
mitochondrial complex iii deficiency, nuclear type 1
mitochondrial complex iii deficiency, nuclear type 2
mitochondrial complex iii deficiency, nuclear type 3
mitochondrial complex iii deficiency, nuclear type 4
mitochondrial complex iii deficiency, nuclear type 5
mitochondrial complex iii deficiency, nuclear type 6
mitochondrial complex iv deficiency
mitochondrial complex v (atp synthase) deficiency, nuclear type 1
mitochondrial complex v (atp synthase) deficiency, nuclear type 2
mitochondrial complex v (atp synthase) deficiency, nuclear type 3
mitochondrial dna depletion syndrome 1 (mngie type)
mitochondrial dna depletion syndrome 11
mitochondrial dna depletion syndrome 12 (cardiomyopathic type)
mitochondrial dna depletion syndrome 13 (encephalomyopathic type)
mitochondrial dna depletion syndrome 2 (myopathic type)
mitochondrial dna depletion syndrome 3 (hepatocerebral type)
mitochondrial dna depletion syndrome 4a (alpers type)
mitochondrial dna depletion syndrome 4b (mngie type)
mitochondrial dna depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
mitochondrial dna depletion syndrome 6 (hepatocerebral type)
mitochondrial dna depletion syndrome 7 (hepatocerebral type)
mitochondrial dna depletion syndrome 8a (encephalomyopathic type with renal tubulopathy)
mitochondrial dna depletion syndrome 8b (mngie type)
mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
mitochondrial myopathy and sideroblastic anemia 1
mitochondrial phosphate carrier deficiency
mitochondrial pyruvate carrier deficiency
mitochondrial recessive ataxia syndrome (includes sando and scae)
mitochondrial respiratory chain complex ii deficiency
mitral valve prolapse, myxomatous 1
mitral valve prolapse, myxomatous 2
mitral valve prolapse, myxomatous 3
miyoshi muscular dystrophy 1
miyoshi muscular dystrophy 2
miyoshi muscular dystrophy 3
mody, type iii
mody, type ii
mody, type iv
mody, type i
moebius syndrome
moebius syndrome-3
mohr-tranebjaerg syndrome
molybdenum cofactor deficiency a
molybdenum cofactor deficiency b
molybdenum cofactor deficiency c
monilethrix
monocyte and dendritic cell deficiency, recessive
mononeuropathy of the median nerve, mild
morning glory disc anomaly
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mowat-wilson syndrome
moyamoya disease 2, susceptibility to
moyamoya disease 3
moyamoya disease 4
moyamoya disease 5
moyamoya disease
muckle-wells syndrome
mucoepidermoid salivary gland carcinoma
mucolipidosis ii alpha/beta
mucolipidosis iii alpha/beta
mucolipidosis iii gamma
mucolipidosis iv
mucopolysaccharidisis type iiia (sanfilippo a)
mucopolysaccharidosis ih/s
mucopolysaccharidosis ih
mucopolysaccharidosis ii
mucopolysaccharidosis is
mucopolysaccharidosis iva
mucopolysaccharidosis type iiib (sanfilippo b)
mucopolysaccharidosis type iiic (sanfilippo c)
mucopolysaccharidosis type iiid
mucopolysaccharidosis type ivb (morquio)
mucopolysaccharidosis type ix
mucopolysaccharidosis type vi (maroteaux-lamy)
mucopolysaccharidosis vii
muenke syndrome
muir-torre syndrome
mulibrey nanism
mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multicentric osteolysis, nodulosis, and arthropathy
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 2
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple endocrine neoplasia 1
multiple endocrine neoplasia iia
multiple endocrine neoplasia iib
multiple endocrine neoplasia, type iv
multiple fibroadenomas of the breast
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple myeloma, resistance to
multiple myeloma, susceptibility to
multiple myeloma
multiple pterygium syndrome, lethal type
multiple sclerosis, disease progression, modifier of
multiple sclerosis, susceptibility to, 1
multiple sclerosis, susceptibility to, 2
multiple sclerosis, susceptibility to, 3
multiple sclerosis, susceptibility to, 4
multiple sclerosis, susceptibility to, 5
multiple self-healing squamous epithelioma, susceptiblity to
multiple sulfatase deficiency
multiple synostoses syndrome 2
multiple synostoses syndrome 3
multiple synostosis syndrome 1
multiple system atrophy, susceptibility to
multisystemic smooth muscle dysfunction syndrome
mungan syndrome
muscle glycogenosis
muscle hypertrophy
muscle strength quantitative trait locus 1
muscular dystrophy with epidermolysis bullosa simplex
muscular dystrophy with rimmed vacuoles
muscular dystrophy, congenital merosin-deficient
muscular dystrophy, congenital, 1b
muscular dystrophy, congenital, due to itga7 deficiency
muscular dystrophy, congenital, due to partial lama2 deficiency
muscular dystrophy, congenital, megaconial type
muscular dystrophy, congenital, merosin-positive
muscular dystrophy, congenital
muscular dystrophy, limb-girdle, type 1a
muscular dystrophy, limb-girdle, type 1b
muscular dystrophy, limb-girdle, type 1e
muscular dystrophy, limb-girdle, type 1f
muscular dystrophy, limb-girdle, type 1h
muscular dystrophy, limb-girdle, type 2a
muscular dystrophy, limb-girdle, type 2b
muscular dystrophy, limb-girdle, type 2c
muscular dystrophy, limb-girdle, type 2d
muscular dystrophy, limb-girdle, type 2e
muscular dystrophy, limb-girdle, type 2f
muscular dystrophy, limb-girdle, type 2g
muscular dystrophy, limb-girdle, type 2h
muscular dystrophy, limb-girdle, type 2j
muscular dystrophy, limb-girdle, type 2l
muscular dystrophy, limb-girdle, type 2q
muscular dystrophy, limb-girdle, type 2r
muscular dystrophy, limb-girdle, type 2s
muscular dystrophy, limb-girdle, type ic
muscular dystrophy, rigid spine, 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 2
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 3
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 6
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 8
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 2
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 3
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 5
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 9
musical aptitude qtl 1
myasthenia gravis with thymus hyperplasia
myasthenia gravis, neonatal transient
myasthenia, congenital, with tubular aggregates 1
myasthenia, familial infantile
myasthenia, limb-girdle, familial
myasthenic syndrome, acetazolamide-responsive
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
myasthenic syndrome, congenital, associated with episodic apnea
myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
myasthenic syndrome, congenital, with tubular aggregates 2
myasthenic syndrome, fast-channel congenital
myasthenic syndrome, slow-channel congenital
mycobacerium tuberculosis, susceptibility, x-linked
mycobacterial and salmonella infections, susceptibility to
mycobacterial and viral infections, susceptibility to, autosomal recessive
mycobacterial infection, atypical, familial disseminated
mycobacterium tuberculosis infection, protection against
mycobacterium tuberculosis, protection against
mycobacterium tuberculosis, susceptibility to infection by
mycobacterium tuberculosis, susceptibility to, 2
mycobacterium tuberculosis, susceptibility to, 3
mycobacterium tuberculosis, susceptibility to
myelodysplasia and leukemia syndrome with monosomy 7
myelodysplasia syndrome-1
myelodysplastic syndrome
myelodysplastic syndrome, preleukemic
myelodysplastic syndrome, somatic
myelodysplastic syndrome, susceptibility to
myelofibrosis with myeloid metaplasia, somatic
myelofibrosis, somatic
myelogenous leukemia, acute
myeloid leukemia, acute, m4/m4eo subtype, somatic
myelokathexis, isolated
myeloperoxidase deficiency
myeloproliferative disorder with eosinophilia
myeloproliferative disorder
myhre syndrome
myocardial infarcation, susceptibility to
myocardial infarction susceptibility
myocardial infarction, decreased susceptibility to
myocardial infarction, protection against
myocardial infarction, susceptibility to
myocardial infarction, susceptibility to, 2
myoclonic epilepsy, infantile, familial
myoclonic epilepsy, juvenile, susceptibility to, 1
myoclonic epilepsy, juvenile
myoclonus, familial cortical
myofibromatosis, infantile 2
myofibromatosis, infantile, 1
myoglobinuria, acute recurrent, autosomal recessive
myokymia
myopathy congenital, with fiber-type disproportion
myopathy due to cpt ii deficiency
myopathy due to myoadenylate deaminase deficiency
myopathy with lactic acidosis, hereditary
myopathy, actin, congenital, with cores
myopathy, actin, congenital, with excess of thin myofilaments
myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
myopathy, areflexia, respiratory distress, and dysphagia, early-onset
myopathy, centronuclear, 3
myopathy, centronuclear, 4
myopathy, centronuclear, autosomal recessive
myopathy, centronuclear
myopathy, congenital, compton-north
myopathy, congenital, with fiber-type disproportion 1
myopathy, congenital, with fiber-type disproportion, x-linked
myopathy, congenital, with fiber-type disproportion
myopathy, distal 2
myopathy, distal 3
myopathy, distal, 4
myopathy, distal, tateyama type
myopathy, distal, with anterior tibial onset
myopathy, early-onset, with fatal cardiomyopathy
myopathy, hyaline body
myopathy, lactic acidosis, and sideroblastic anemia 2
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
myopathy, myofibrillar, 1
myopathy, myofibrillar, 2
myopathy, myofibrillar, 3
myopathy, myofibrillar, 4
myopathy, myofibrillar, 5
myopathy, myofibrillar, 6
myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related
myopathy, myosin storage
myopathy, proximal, with early respiratory muscle involvement
myopathy, reducing body, x-linked, childhood-onset
myopathy, reducing body, x-linked, severe early-onset
myopathy, spheroid body
myopathy, tubular aggregate
myopathy, x-linked, with excessive autophagy
myopathy, x-linked, with postural muscle atrophy
myopia 10
myopia 11
myopia 12
myopia 13
myopia 14
myopia 15
myopia 16
myopia 17
myopia 18
myopia 19
myopia 20, autosomal dominant
myopia 21, autosomal dominant
myopia 22, autosomal dominant
myopia 23, autosomal recessive
myopia 5
myopia 6
myopia 7
myopia 8
myopia 9
myopia, high, with cataract and vitreoretinal degeneration
myopia-1
myopia-2
myopia-3
myopia-6
myosclerosis, congenital
myotonia congenita, atypical, acetazolamide-responsive
myotonia congenita, dominant
myotonia congenita, recessive
myotonia levior, recessive
myotonic dystrophy 1
myotonic dystrophy 2
myotubular myopathy, x-linked
myxoid liposarcoma
myxoma, intracardiac
n syndrome
n-acetylaspartate deficiency
n-acetylglutamate synthase deficiency
n-terminal acetyltransferase deficiency
nablus mask-like facial syndrome
naegeli-franceschetti-jadassohn syndrome
nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)
nail disorder, nonsyndromic congenital, 3, (leukonychia)
nail disorder, nonsyndromic congenital
nail dysplasia, isolated congenital
nail-patella syndrome
nance-horan syndrome
nanophthalmos 2
nanophthalmos 3
nanophthalmos-1
narcolepsy 1
narcolepsy 2
narcolepsy 3
narcolepsy 4
narcolepsy 5
narcolepsy 6
narcolepsy 7
nasopharyngeal carcinoma 1
nasopharyngeal carcinoma, susceptibility to, 2
nasopharyngeal carcinoma
nasu-hakola disease
native american myopathy
natural killer cell and glucocorticoid deficiency with dna repair defect
natural teeth remaining intact
naxos disease
nemaline myopathy 1, autosomal dominant or recessive
nemaline myopathy 2, autosomal recessive
nemaline myopathy 3, autosomal dominant or recessive
nemaline myopathy 4, autosomal dominant
nemaline myopathy 5, amish type
nemaline myopathy 6, autosomal dominant
nemaline myopathy 7, autosomal recessive
nemaline myopathy 8, autosomal recessive
nephrogenic syndrome of inappropriate antidiuresis
nephrolithiasis, type i
nephrolithiasis, uric acid, susceptibility to
nephrolithiasis/osteoporosis, hypophosphatemic, 1
nephrolithiasis/osteoporosis, hypophosphatemic, 2
nephronophthisis 1, juvenile
nephronophthisis 11
nephronophthisis 12
nephronophthisis 13
nephronophthisis 14
nephronophthisis 15
nephronophthisis 16
nephronophthisis 2, infantile
nephronophthisis 3
nephronophthisis 4
nephronophthisis 7
nephronophthisis 9
nephronophthisis-like nephropathy 1
nephropathy due to cfhr5 deficiency
nephropathy with pretibial epidermolysis bullosa and deafness
nephropathy, progressive, with deafness
nephropathy-hypertension
nephrotic syndrome, type 1
nephrotic syndrome, type 2
nephrotic syndrome, type 3
nephrotic syndrome, type 4
nephrotic syndrome, type 5, with or without ocular abnormalities
nephrotic syndrome, type 6
nephrotic syndrome, type 7
nephrotic syndrome, type 8
nephrotic syndrome, type 9
nestor-guillermo progeria syndrome
netherton syndrome
neural tube defects, folate-sensitive, susceptibility to
neural tube defects, susceptibility to
neural tube defects
neuroaxonal neurodegeneration, infantile, with facial dysmophism
neuroblastoma with hirschsprung disease
neuroblastoma
neuroblastoma, susceptibility to, 1
neuroblastoma, susceptibility to, 2
neuroblastoma, susceptibility to, 3
neuroblastoma, susceptibility to, 4
neuroblastoma, susceptibility to, 5
neuroblastoma, susceptibility to, 6
neurodegeneration due to cerebral folate transport deficiency
neurodegeneration with brain iron accululation 5
neurodegeneration with brain iron accumulation 1
neurodegeneration with brain iron accumulation 2b
neurodegeneration with brain iron accumulation 3
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodegeneration with optic atrophy, childhood onset
neuroepithelioma
neurofibromatosis, familial spinal
neurofibromatosis, type 1
neurofibromatosis, type 2
neurofibromatosis-noonan syndrome
neurofibrosarcoma
neuromuscular disease, congenital, with uniform type 1 fiber
neuromyotonia and axonal neuropathy, autosomal recessive
neuronopathy, distal hereditary motor, type i
neuronopathy, distal hereditary motor, type iic
neuronopathy, distal hereditary motor, type iid
neuronopathy, distal hereditary motor, type vb
neuronopathy, distal hereditary motor, type viia
neuronopathy, distal hereditary motor, type vi
neuropathy, congenital hypomyelinating, 1
neuropathy, congenital hypomyelinating
neuropathy, distal hereditary motor, jerash type
neuropathy, distal hereditary motor, type iia
neuropathy, distal hereditary motor, type iib
neuropathy, distal hereditary motor, type va
neuropathy, distal hereditary motor, type viib
neuropathy, hereditary motor and sensory, russe type
neuropathy, hereditary sensory and autonomic, type ia
neuropathy, hereditary sensory and autonomic, type ic
neuropathy, hereditary sensory and autonomic, type iib
neuropathy, hereditary sensory and autonomic, type ii
neuropathy, hereditary sensory and autonomic, type vii
neuropathy, hereditary sensory and autonomic, type vi
neuropathy, hereditary sensory and autonomic, type v
neuropathy, hereditary sensory, type ib
neuropathy, hereditary sensory, type id
neuropathy, hereditary sensory, type ie
neuropathy, hereditary sensory, type if
neuropathy, hereditary sensory, type iic
neuropathy, hereditary sensory, with spastic paraplegia
neuropathy, inflammatory demyelinating
neuropathy, motor and sensory, russe type
neuropathy, paraneoplastic sensory
neuropathy, recurrent, with pressure palsies
neutral endopeptidase deficiency
neutral lipid storage disease with myopathy
neutropenia, alloimmune neonatal
neutropenia, cyclic
neutropenia, neonatal alloimmune
neutropenia, nonimmune chronic idiopathic, of adults
neutropenia, severe congenital 1, autosomal dominant
neutropenia, severe congenital 2, autosomal dominant
neutropenia, severe congenital 3, autosomal recessive
neutropenia, severe congenital 4, autosomal recessive
neutropenia, severe congenital, 5, autosomal recessive
neutropenia, severe congenital, x-linked
neutrophil chemotactic repsonse, abnormal
neutrophil immunodeficiency syndrome
neutrophilia, hereditary
nevus sebaceous, somatic
nevus, epidermal, somatic
newfoundland rod-cone dystrophy
nicolaides-baraitser syndrome
nicotine addiction, protection from
nicotine addiction, susceptibility to
nicotine dependence, protection against
nicotine dependence, susceptibility to
niemann-pick disease, type a
niemann-pick disease, type b
niemann-pick disease, type c1
niemann-pick disease, type c2
niemann-pick disease, type d
night blindness, congenital stationary (complete), 1a, x-linked
night blindness, congenital stationary (complete), 1b, autosomal recessive
night blindness, congenital stationary (complete), 1c, autosomal recessive
night blindness, congenital stationary (complete), 1d, autosomal recessive
night blindness, congenital stationary (complete), 1e, autosomal recessive
night blindness, congenital stationary (complete), 1f, autosomal recessive
night blindness, congenital stationary (incomplete), 2a, x-linked
night blindness, congenital stationary (incomplete), 2b, autosomal recessive
night blindness, congenital stationary, autosomal dominant 1
night blindness, congenital stationary, autosomal dominant 2
night blindness, congenital stationary, autosomal dominant 3
nijmegen breakage syndrome-like disorder
nijmegen breakage syndrome
non-hodgkin lymphoma, somatic
nonaka myopathy
nonarteritic anterior ischemic optic neuropathy, susceptibility to
nonsmall cell lung cancer
nonsmall cell lung cancer, response to tyrosine kinase inhibitor in
nonsmall cell lung cancer, somatic
nonsmall cell lung cancer, susceptibility to
noonan syndrome 1
noonan syndrome 3
noonan syndrome 4
noonan syndrome 5
noonan syndrome 6
noonan syndrome 7
noonan syndrome 8
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
noonan-like syndrome with loose anagen hair
nor polyagglutination syndrome
norrie disease
norum disease
norwalk virus infection, resistance to
novelty seeking personality
nystagmus 1, congenital, x-linked
nystagmus 3, congenital
nystagmus 4, congenital
nystagmus 5, congenital, x-linked
nystagmus 6, congenital, x-linked
nystagmus 7, congenital
nystagmus, infantile periodic alternating, x-linked
nystagmus-2, autosomal dominant
obesity with impaired prohormone processing
obesity, adrenal insufficiency, and red hair due to pomc deficiency
obesity, association with
obesity, autosomal dominant
obesity, early-onset, susceptibility to
obesity, hyperphagia, and developmental delay
obesity, late-onset
obesity, mild, early-onset
obesity, morbid, due to leptin deficiency
obesity, morbid, due to leptin receptor deficiency
obesity, resistance to
obesity, severe, and type ii diabetes
obesity, severe, susceptibility to, bmiq9
obesity, severe
obesity, susceptibility to, bmiq10
obesity, susceptibility to, bmiq11
obesity, susceptibility to, bmiq12
obesity, susceptibility to, bmiq18
obesity, susceptibility to, bmiq4
obesity, susceptibility to, bmiq7
obesity, susceptibility to, bmiq8
obesity, susceptibility to
obesity, variation in
obesity
obsessive-compulsive disorder, protection against
obsessive-compulsive disorder, susceptibility to
obsessive-compulsive disorder
occipital horn syndrome
occult macular dystrophy
ocular albinism with sensorineural deafness
ocular albinism, type i, nettleship-falls type
oculoauricular syndrome
oculodentodigital dysplasia, autosomal recessive
oculodentodigital dysplasia
oculomotor apraxia, congenital, cogan-type
oculopharyngeal muscular dystrophy
odontohypophosphatasia
odontoonychodermal dysplasia
oguchi disease-1
oguchi disease-2
ohdo syndrome, x-linked
oi type iii
oi type ii
oi type iv
okt4 epitope deficiency
oligodontia-colorectal cancer syndrome
olmsted syndrome
omenn syndrome
omodysplasia 1
omphalocele due to duplication of 1p31.3
opioid dependence, susceptibility to, 1
opioid dependence, susceptibility to
opitz gbbb syndrome, type ii
opitz gbbb syndrome, type i
opitz-kaveggia syndrome
opremazole poor metabolizer
opsismodysplasia
optic atrophy 1
optic atrophy 2, x-linked
optic atrophy 3 with cataract
optic atrophy 5
optic atrophy 6
optic atrophy plus syndrome
optic atrophy-4
optic atrophy-7
optic nerve hypoplasia and abnormalities of the central nervous system
optic nerve hypoplasia
oral-facial-digital syndrome 1
organophosphate poisoning, sensitivity to
ornithine transcarbamylase deficiency
orofacial cleft 10
orofacial cleft 11
orofacial cleft 12
orofacial cleft 13
orofacial cleft 4
orofacial cleft 5
orofacial cleft 6
orofacial cleft 7
orofacial cleft 8
orofacial cleft 9
orofacial cleft-1
orofacial cleft-2
orofacial cleft-3
orofaciodigital syndrome iv
orofaciodigital syndrome v
orolaryngeal cancer, multiple,
orotic aciduria
orthostatic hypotensive disorder of streeten
orthostatic intolerance
osseous heteroplasia, progressive
ossification of posterior longitudinal ligament of spine
ossification of the posterior longitudinal spinal ligaments
osteoarthritis susceptibility 1
osteoarthritis susceptibility 2
osteoarthritis susceptibility 3
osteoarthritis susceptibility 4
osteoarthritis susceptibility 6
osteoarthritis with mild chondrodysplasia
osteoarthritis-5
osteochondritis dissecans, short stature, and early-onset osteoarthritis
osteogenesis imperfecta, type iii
osteogenesis imperfecta, type ii
osteogenesis imperfecta, type iv
osteogenesis imperfecta, type ix
osteogenesis imperfecta, type i
osteogenesis imperfecta, type viii
osteogenesis imperfecta, type vii
osteogenesis imperfecta, type vi
osteogenesis imperfecta, type v
osteogenesis imperfecta, type xiii
osteogenesis imperfecta, type xii
osteogenesis imperfecta, type xiv
osteogenesis imperfecta, type xi
osteogenesis imperfecta, type xv
osteogenesis imperfecta, type x
osteoglophonic dysplasia
osteolysis, familial expansile
osteomalacia, tumor-induced
osteopathia striata with cranial sclerosis
osteopetrosis, autosomal dominant 1
osteopetrosis, autosomal dominant 2
osteopetrosis, autosomal recessive 1
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, autosomal recessive 7
osteopetrosis, autosomal recessive 8
osteopoikilosis
osteoporosis, early-onset, susceptibility to, autosomal dominant
osteoporosis, involutional
osteoporosis, postmenopausal, susceptibility
osteoporosis, postmenopausal
osteoporosis, susceptibility to
osteoporosis-pseudoglioma syndrome
osteoporosis
osteosarcoma, somatic
osteosarcoma
osteosclerosis
otitis media, susceptibility to
otodental dysplasia chromsome deletion syndrome
otofaciocervical syndrome 2
otofaciocervical syndrome
otopalatodigital syndrome, type ii
otopalatodigital syndrome, type i
otosclerosis 1
otosclerosis 10
otosclerosis 2
otosclerosis 3
otosclerosis 4
otosclerosis 5
otosclerosis 7
otosclerosis 8
otospondylomegaepiphyseal dysplasia
ovalocytosis
ovarian cancer, somatic,
ovarian cancer, somatic
ovarian cancer, susceptibility to
ovarian carcinoma
ovarian carcinoma, somatic
ovarian dysgenesis 1
ovarian dysgenesis 2
ovarian dysgenesis 3
ovarian hyperstimulation syndrome
ovarian response to fsh stimulation
ovarioleukodystrophy
pachyonychia congenita, jackson-lawler type
pachyonychia congenita, jadassohn-lewandowsky type
paget disease of bone
paget disease, juvenile
pallister-hall syndrome
pallister-killian syndrome
palmoplantar hyperkeratosis and true hermaphroditism
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
palmoplantar keratoderma, bothnia type
palmoplantar keratoderma, bothnian type
palmoplantar keratoderma, epidermolytic
palmoplantar keratoderma, nagashima type
palmoplantar keratoderma, nonepidermolytic, focal
palmoplantar keratoderma, nonepidermolytic
panbronchiolitis, diffuse
pancreatic agenesis and congenital heart defects
pancreatic agenesis
pancreatic cancer, somatic
pancreatic cancer, susceptibility to, 1
pancreatic cancer, susceptibility to, 3
pancreatic cancer, susceptibility to, 4
pancreatic cancer/melanoma syndrome
pancreatic cancer
pancreatic carcinoma, somatic
pancreatic endocrine tumors
pancreatic lipase deficiency
pancreatitis, chronic, protection against
pancreatitis, chronic, susceptibility to
pancreatitis, hereditary
pancreatitis, idiopathic
panhypopituitarism, x-linked
panic disorder 2
panic disorder 3
panic disorder syndrome 1
panic disorder, susceptibility to
papillon-lefevre syndrome
papillorenal syndrome
paraganglioma and gastric stromal sarcoma
paragangliomas 1, with or without deafness
paragangliomas 2
paragangliomas 3
paragangliomas 4
paragangliomas 5
paramyotonia congenita
parasomnia, sleepwalking type
parastremmatic dwarfism
parathyroid adenoma with cystic changes
parathyroid adenoma, somatic
parathyroid carcinoma
parietal foramina 1
parietal foramina 2
parietal foramina with cleidocranial dysplasia
parkes weber syndrome
parkinson disease 10
parkinson disease 11
parkinson disease 12
parkinson disease 13
parkinson disease 14
parkinson disease 15, autosomal recessive
parkinson disease 16
parkinson disease 17
parkinson disease 18
parkinson disease 19, juvenile-onset
parkinson disease 1
parkinson disease 20, early-onset
parkinson disease 3
parkinson disease 4
parkinson disease 5, susceptibility to
parkinson disease 6, early onset
parkinson disease 7, autosomal recessive early-onset
parkinson disease 8
parkinson disease, juvenile, type 2
parkinson disease, late-onset, susceptibility to
parkinson disease, susceptibility to
parkinsonism with spasticity, x-linked
parkinsonism-dystonia, infantile
paroxysmal extreme pain disorder
paroxysmal nocturnal hemoglobinuria 2
paroxysmal nocturnal hemoglobinuria, somatic
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia
partington syndrome
patella aplasia or hypoplasia
patent ductus arteriosus, susceptibility to
pcwh syndrome
peeling skin syndrome, acral type
peeling skin syndrome
pelger-huet anomaly
pelizaeus-merzbacher disease
pelvic organ prolapse, susceptibility to, 1
pelvic organ prolapse, susceptibility to, 2
pelviureteric junction obstruction
pemphigoid, susceptibility to
pendred syndrome
pentosuria
pepck deficiency, mitochondrial
periodic fever, familial
periodic fever, menstrual cycle dependent
periodontitis 1, juvenile
periodontitis, aggressive
peripheral arterial occlusive disease 1
peripheral neuropathy, myopathy, hoarseness, and hearing loss
periventricular heterotopia with microcephaly
periventricular nodular heterotopia 3
periventricular nodular heterotopia 5
periventricular nodular heterotopia 6
perlman syndrome
peroxisomal acyl-coa oxidase deficiency
peroxisome biogenesis disorder 10a (zellweger)
peroxisome biogenesis disorder 11a (zellweger)
peroxisome biogenesis disorder 11b
peroxisome biogenesis disorder 12a (zellweger)
peroxisome biogenesis disorder 13a (zellweger)
peroxisome biogenesis disorder 14b
peroxisome biogenesis disorder 1a (zellweger)
peroxisome biogenesis disorder 1b (nald/ird)
peroxisome biogenesis disorder 2a (zellweger)
peroxisome biogenesis disorder 2b
peroxisome biogenesis disorder 3a (zellweger)
peroxisome biogenesis disorder 3b
peroxisome biogenesis disorder 4a (zellweger)
peroxisome biogenesis disorder 4b
peroxisome biogenesis disorder 5a (zellweger)
peroxisome biogenesis disorder 5b
peroxisome biogenesis disorder 6a (zellweger)
peroxisome biogenesis disorder 6b
peroxisome biogenesis disorder 7a (zellweger)
peroxisome biogenesis disorder 7b
peroxisome biogenesis disorder 8a, (zellweger)
peroxisome biogenesis disorder 8b
peroxisome biogenesis disorder 9b
perrault syndrome 1
perrault syndrome 2
perrault syndrome 3
perrault syndrome 4
perry syndrome
persistent mullerian duct syndrome, type ii
persistent mullerian duct syndrome, type i
persistent polyclonal b-cell lymphocytosis
persistent truncus arteriosus
peters anomaly
peters-plus syndrome
pettigrew syndrome
peutz-jeghers syndrome
pfeiffer syndrome
phelan-mcdermid syndrome
phenylketonuria
phenylthiocarbamide tasting
pheochromocytoma, modifier of
pheochromocytoma, susceptibility to
pheochromocytoma
phobia, specific
phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency
phosphoglycerate dehydrogenase deficiency
phosphoglycerate kinase 1 deficiency
phosphohydroxylysinuria
phospholipase a2, group iv a, deficiency of
phosphoribosylpyrophosphate synthetase superactivity
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
phosphoserine aminotransferase deficiency
phosphoserine phosphatase deficiency
photoparoxysmal response 1
photoparoxysmal response 2
photoparoxysmal response 3
pick disease
piebaldism
pierre robin syndrome
pierson syndrome
pigment disorder, reticulate
pigment dispersion syndrome
pigmented nodular adrenocortical disease, primary, 1
pigmented nodular adrenocortical disease, primary, 2
pigmented nodular adrenocortical disease, primary, 3
pigmented paravenous chorioretinal atrophy
pilomatricoma, somatic
pitt-hopkins like syndrome 1
pitt-hopkins syndrome
pitt-hopkins-like syndrome 2
pituitary acth-secreting adenoma
pituitary adenoma, acth-secreting
pituitary adenoma, growth hormone-secreting
pituitary adenoma, prolactin-secreting
pituitary hormone deficiency, combined, 1
pituitary hormone deficiency, combined, 2
pituitary hormone deficiency, combined, 3
pituitary hormone deficiency, combined, 4
pituitary hormone deficiency, combined, 5
pituitary hormone deficiency, combined, 6
pituitary tumor, invasive
pityriasis rubra pilaris
placental abruption
placental lactogen deficiency
plasma fibronectin deficiency
plasma glucose, 2-hour, qtl 1
plasma glucose, 2-hour, qtl 2
plasminogen activator inhibitor-1 deficiency
plasminogen deficiency, types i and ii
plasminogen tochigi disease
plasmodium falciparum fever episodes qtl1
platelet disorder, familial, with associated myeloid malignancy
platelet glycoprotein iv deficiency
platelet plc beta-2 deficiency
platelet-activating factor acetylhydrolase deficiency
platyspondylic skeletal dysplasia, torrance type
pleuropulmonary blastoma
pneumococcal disease, invasive, protection against
pneumothorax, primary spontaneous
podoconiosis, susceptibility to
poikiloderma with neutropenia
polycystic kidney and hepatic disease
polycystic kidney disease 2
polycystic kidney disease, adult type i
polycystic kidney disease, infantile severe, with tuberous sclerosis
polycystic liver disease
polycystic ovary syndrome 1
polycythemia vera
polydactyly, postaxial, type a3
polydactyly, postaxial, type a4
polydactyly, postaxial, type a5
polydactyly, postaxial, type a6
polydactyly, postaxial, types a1 and b
polydactyly, preaxial type ii
polydactyly, preaxial, type iv
polyglucosan body disease, adult form
polyhydramnios, megalencephaly, and symptomatic epilepsy
polymicrogyria with optic nerve hypoplasia
polymicrogyria with seizures
polymicrogyria, bilateral frontoparietal
polymicrogyria, bilateral occipital
polymicrogyria, bilateral perisylvian
polymicrogyria, symmetric or asymmetric
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
polyposis syndrome, hereditary mixed, 2
polyposis syndrome, mixed hereditary 1
polyposis, juvenile intestinal
polyunsaturated fatty acids plasma level qtl1
pontocerebellar hypoplasia type 1a
pontocerebellar hypoplasia type 2a
pontocerebellar hypoplasia type 2b
pontocerebellar hypoplasia type 2c
pontocerebellar hypoplasia type 2d
pontocerebellar hypoplasia type 4
pontocerebellar hypoplasia, type 1b
pontocerebellar hypoplasia, type 3
pontocerebellar hypoplasia, type 6
pontocerebellar hypoplasia, type 8
popliteal pterygium syndrome 1
popliteal pterygium syndrome 2, lethal type
porencephaly 1
porencephaly 2
porokeratosis 2, palmar, plantar, and disseminated
porokeratosis 3, disseminated superficial actinic
porokeratosis 4, disseminated superficial actinic
porokeratosis 5, disseminated superficial actinic
porokeratosis 6
porokeratosis 7
porokeratosis, disseminated superficial actinic, 1
porphyria cutanea tarda, susceptibility to
porphyria cutanea tarda
porphyria variegata, susceptibility to
porphyria variegata
porphyria, acute hepatic
porphyria, acute intermittent, nonerythroid variant
porphyria, acute intermittent
porphyria, congenital erythropoietic
porphyria, hepatoerythropoietic
postaxial polydactyly, type a2
potocki-lupski syndrome
potocki-shaffer syndrome
prader-willi syndrome
prader-willi-like syndrome
pre-b-cell acute lymphoblastic leukemia
preauricular fistulae, congenital
preauricular tag, isolated, autosomal dominant
precocious puberty, central, 1
precocious puberty, central, 2
precocious puberty, male
preeclampsia, susceptibility to
preeclampsia/eclampsia 1
preeclampsia/eclampsia 2
preeclampsia/eclampsia 3
preeclampsia/eclampsia 4
preeclampsia/eclampsia 5
pregnancy loss, recurrent, susceptibility to, 1
pregnancy loss, recurrent, susceptibility to, 2
pregnancy loss, recurrent, susceptibility to, 3
pregnancy loss, susceptibility to
premature chromatid separation trait
premature ovarian failure 1
premature ovarian failure 2b
premature ovarian failure 3
premature ovarian failure 4
premature ovarian failure 5
premature ovarian failure 6
premature ovarian failure 7
premature ovarian failure
preterm premature rupture of the membranes, susceptibility to
prieto syndrome
primary aldosteronism, seizures, and neurologic abnormalities
primary lateral sclerosis, adult
primary lateral sclerosis, juvenile
prinzmetal angina
prion disease with protracted course
progesterone resistance
progressive external ophthalmoplegia with mitochondrial dna deletions 3
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6
progressive external ophthalmoplegia, autosomal dominant, 3
progressive external ophthalmoplegia, autosomal dominant
progressive external ophthalmoplegia, autosomal recessive
progressive familial heart block, type ib
proguanil poor metabolizer
prolidase deficiency
proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
prolonged bleeding time, brachydactyly and mental retardation
prolonged bleeding time, brachydactyly, and mental retardation
properdin deficiency, x-linked
propionicacidemia
prostate adenocarcinoma
prostate cancer 1
prostate cancer aggressiveness qtl
prostate cancer, familial, susceptibility to
prostate cancer, hereditary, 10
prostate cancer, hereditary, 11
prostate cancer, hereditary, 12
prostate cancer, hereditary, 13
prostate cancer, hereditary, 14
prostate cancer, hereditary, 15
prostate cancer, hereditary, 2, susceptibility to
prostate cancer, hereditary, 5
prostate cancer, hereditary, 7
prostate cancer, hereditary, 9
prostate cancer, hereditary, x-linked 1
prostate cancer, hereditary, x-linked 2
prostate cancer, hereditary
prostate cancer, progression and metastasis of
prostate cancer, progression of
prostate cancer, somatic
prostate cancer, susceptibility to, 3
prostate cancer, susceptibility to, 4
prostate cancer, susceptibility to
prostate cancer
protein z deficiency
proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
proteus syndrome, somatic
protoporphyria, erythropoietic, autosomal recessive
protoporphyria, erythropoietic, x-linked
proud syndrome
pseudoachondroplasia
pseudofolliculitis barbae, susceptibility to
pseudohermaphroditism, male, with gynecomastia
pseudohyperkalemia, familial, 2, due to red cell leak
pseudohypoaldosteronism type i, autosomal dominant
pseudohypoaldosteronism, type iia
pseudohypoaldosteronism, type iib
pseudohypoaldosteronism, type iic
pseudohypoaldosteronism, type iid
pseudohypoaldosteronism, type iie
pseudohypoaldosteronism, type i
pseudohypoparathyroidism ia
pseudohypoparathyroidism ib
pseudohypoparathyroidism ic
pseudohypoparathyroidism, type ib
pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis
pseudopseudohypoparathyroidism
pseudovaginal perineoscrotal hypospadias
pseudoxanthoma elasticum, forme fruste
pseudoxanthoma elasticum, modifier of severity of
pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
pseudoxanthoma elasticum
psoraisis susceptibility 9
psoriasis susceptibility 10
psoriasis susceptibility 11
psoriasis susceptibility 12
psoriasis susceptibility 13
psoriasis susceptibility 1
psoriasis susceptibility 2
psoriasis susceptibility 3
psoriasis susceptibility 4
psoriasis susceptibility 5
psoriasis susceptibility 6
psoriasis susceptibility 7
psoriasis susceptibility 8
psoriasis, generalized pustular
psoriasis, protection against
psoriatic arthritis, susceptibility to
psychomotor retardation, epilepsy, and craniofacial dysmorphism
pten hamartoma tumor syndrome
ptosis, congenital
ptosis, hereditary congenital 2
ptosis, hereditary congenital
pulmonary alveolar microlithiasis
pulmonary disease, chronic obstructive, severe early-onset
pulmonary disease, chronic obstructive, susceptibility to
pulmonary fibrosis, idiopathic, susceptibility to
pulmonary fibrosis, idiopathic
pulmonary fibrosis, telomere-related, 1
pulmonary function
pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to
pulmonary hypertension, familial primary, 1, with or without hht
pulmonary hypertension, neonatal, susceptibility to
pulmonary hypertension, primary, 2
pulmonary hypertension, primary, 3
pulmonary hypertension, primary, 4
pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
pulmonary venoocclusive disease 1
pulmonary venoocclusive disease 2
purpura, posttransfusion
pycnodysostosis
pyloric stenosis, infantile hypertrophic 1
pyloric stenosis, infantile hypertrophic
pyogenic bacterial infections, recurrent, due to myd88 deficiency
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
pyridoxamine 5'-phosphate oxidase deficiency
pyropoikilocytosis
pyruvate carboxylase deficiency
pyruvate dehydrogenase e1-alpha deficiency
pyruvate dehydrogenase e1-beta deficiency
pyruvate dehydrogenase e2 deficiency
pyruvate dehydrogenase lipoic acid synthetase deficiency
pyruvate dehydrogenase phosphatase deficiency
pyruvate kinase deficiency
qt interval, variation in
quebec platelet disorder
rabson-mendenhall syndrome
radial ray deficiency
radiation sensitivity/chromosome instability syndrome, autosomal dominant
radioulnar synostosis with amegakaryocytic thrombocytopenia
ragweed sensitivity
raine syndrome
rajab syndrome
rapadilino syndrome
rapid progression to aids from hiv1 infection
rapp-hodgkin syndrome
recombination rate qtl 1
reduced triglycerides, susceptibility to
refsum disease, adult, with increased pipecolicacidemia
refsum disease
renal adysplasia
renal agenesis
renal carcinoma, chromophobe, somatic
renal cell carcinoma, clear cell, somatic
renal cell carcinoma, papillary, 1, familial and somatic
renal cell carcinoma, papillary, 1
renal cell carcinoma, papillary
renal cell carcinoma, somatic
renal cell carcinoma
renal cysts and diabetes syndrome
renal dysplasia, cystic, susceptibility to
renal glucosuria
renal hypodysplasia, nonsyndromic
renal hypoplasia, isolated
renal tubular acidosis with deafness
renal tubular acidosis, distal, ad
renal tubular acidosis, distal, ar
renal tubular acidosis, distal, autosomal recessive
renal tubular acidosis, proximal, with ocular abnormalities
renal tubular dysgenesis
renal-hepatic-pancreatic dysplasia 1
renal-hepatic-pancreatic dysplasia 2
renpenning syndrome
resistance to malaria due to g6pd deficiency
respiratory rhythmicity in sleep
resting heart rate
restless legs syndrome 1
restless legs syndrome 2
restless legs syndrome 3
restless legs syndrome 4
restless legs syndrome 5
restless legs syndrome 6
restless legs syndrome 7
restless legs syndrome, susceptibility to
restrictive dermopathy, lethal
reticular dysgenesis
reticulate acropigmentation of kitamura
retinal arterial macroaneurysm with supravalvular pulmonic stenosis
retinal cone dystrophy 3b
retinal cone dystrophy 3
retinal cone dystrophy 4
retinal cone dystrophy-1
retinal degeneration, autosomal recessive, clumped pigment type
retinal degeneration, late-onset, autosomal dominant
retinal disease in usher syndrome type iia, modifier of
retinal dystrophy, early-onset severe
retinal dystrophy, early-onset, and pituitary dysfunction
retinal nonattachment, nonsyndromic congenital
retinitis pigmentosa 10
retinitis pigmentosa 11
retinitis pigmentosa 13
retinitis pigmentosa 14
retinitis pigmentosa 17
retinitis pigmentosa 18
retinitis pigmentosa 19
retinitis pigmentosa 1
retinitis pigmentosa 20
retinitis pigmentosa 22
retinitis pigmentosa 23
retinitis pigmentosa 24
retinitis pigmentosa 25
retinitis pigmentosa 26
retinitis pigmentosa 27
retinitis pigmentosa 28
retinitis pigmentosa 29
retinitis pigmentosa 2
retinitis pigmentosa 30
retinitis pigmentosa 31
retinitis pigmentosa 32
retinitis pigmentosa 33
retinitis pigmentosa 34
retinitis pigmentosa 35
retinitis pigmentosa 36
retinitis pigmentosa 37
retinitis pigmentosa 38
retinitis pigmentosa 39
retinitis pigmentosa 3
retinitis pigmentosa 4, autosomal dominant or recessive
retinitis pigmentosa 41
retinitis pigmentosa 42
retinitis pigmentosa 43
retinitis pigmentosa 44
retinitis pigmentosa 45
retinitis pigmentosa 46
retinitis pigmentosa 47
retinitis pigmentosa 48
retinitis pigmentosa 49
retinitis pigmentosa 51
retinitis pigmentosa 54
retinitis pigmentosa 55
retinitis pigmentosa 56
retinitis pigmentosa 57
retinitis pigmentosa 58
retinitis pigmentosa 59
retinitis pigmentosa 60
retinitis pigmentosa 61
retinitis pigmentosa 62
retinitis pigmentosa 63
retinitis pigmentosa 64
retinitis pigmentosa 65
retinitis pigmentosa 66
retinitis pigmentosa 67
retinitis pigmentosa 7, digenic
retinitis pigmentosa 7
retinitis pigmentosa 9
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa, concentric
retinitis pigmentosa, digenic
retinitis pigmentosa, juvenile, autosomal recessive
retinitis pigmentosa, juvenile
retinitis pigmentosa, x-linked recessive
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness
retinitis pigmentosa, y-linked
retinitis pigmentosa-12, autosomal recessive
retinitis pigmentosa-40
retinitis pigmentosa-50
retinitis punctata albescens
retinoblastoma, trilateral
retinoblastoma
retinol dystrophy, iris coloboma, and comedogenic acne syndrome
retinopathy of prematurity
retinoschisis
rett syndrome, congenital variant
rett syndrome, preserved speech variant
rett syndrome
revesz syndrome
reynolds syndrome
rh-mod syndrome
rh-negative blood type
rh-null disease, amorph type
rhabdoid predisposition syndrome 1
rhabdoid tumor predisposition syndrome 2
rhabdoid tumors, somatic
rhabdomyolysis, cerivastatin-induced
rhabdomyosarcoma 2, alveolar
rhabdomyosarcoma, alveolar
rhabdomyosarcoma, embryonal, 2
rhabdomyosarcoma, somatic
rheumatoid arthritis, progression of
rheumatoid arthritis, susceptibility to
rheumatoid arthritis, systemic juvenile, susceptibility to
rheumatoid arthritis, systemic juvenile
rhizomelic chondrodysplasia punctata, type 1
rhizomelic chondrodysplasia punctata, type 3
riboflavin deficiency
ribose 5-phosphate isomerase deficiency
rickets due to defect in vitamin d 25-hydroxylation
rickets, vitamin d-resistant, type iia
riddle syndrome
rieger or axenfeld anomalies
rieger syndrome, type 2
rienhoff syndrome
right atrial isomerism
rigidity and multifocal seizure syndrome, lethal neonatal
ring dermoid of cornea
rippling muscle disease-1
rippling muscle disease
ritscher-schinzel syndrome
roberts syndrome
robinow syndrome, autosomal dominant
robinow syndrome, autosomal recessive
robinow-sorauf syndrome
roifman syndrome
roifman-chitayat syndrome
rolandic epilepsy, mental retardation, and speech dyspraxia
rothmund-thomson syndrome
roussy-levy syndrome
rubinstein-taybi syndrome 2
rubinstein-taybi syndrome
saccharopinuria
saethre-chotzen syndrome with eyelid anomalies
saethre-chotzen syndrome
salla disease
sandhoff disease, infantile, juvenile, and adult forms
sarcoidosis, early-onset
sarcoidosis, susceptibility to, 1
sarcoidosis, susceptibility to, 2
sarcoidosis, susceptibility to, 3
sarcoma, synovial
sarcosinemia
sars infection, protection against
sars, progression of
sbbyss syndrome
sc phocomelia syndrome
scalp-ear-nipple syndrome
scaphocephaly and axenfeld-rieger anomaly
scaphocephaly, maxillary retrusion, and mental retardation
scapuloperoneal myopathy, x-linked dominant
scapuloperoneal spinal muscular atrophy
scapuloperoneal syndrome, myopathic type
scapuloperoneal syndrome, neurogenic, kaeser type
schimke immunoosseous dysplasia
schimmelpenning-feuerstein-mims syndrome, somatic mosaic
schindler disease, type iii
schindler disease, type i
schinzel-giedion midface retraction syndrome
schistosoma mansoni infection, susceptibility/resistance to
schizencephaly
schizensephaly
schizoaffective disorder, susceptibility to
schizophrenia 10
schizophrenia 12
schizophrenia 15
schizophrenia 16
schizophrenia susceptibility 18
schizophrenia, neurophysiologic defect in
schizophrenia, susceptibility to, 13
schizophrenia, susceptibility to, 14
schizophrenia, susceptibility to, 17
schizophrenia, susceptibility to, 4
schizophrenia, susceptibility to
schizophrenia
schneckenbecken dysplasia
schopf-schulz-passarge syndrome
schwannomatosis
schwartz-jampel syndrome, type 1
scid due to lck deficiency
scid, autosomal recessive, t-negative/b-positive type
sclerosteosis 2
sclerosteosis
scoliosis, idiopathic 1
scoliosis, idiopathic 2
scoliosis, idiopathic 3
scoliosis, idiopathic, susceptibility to, 4
scott syndrome
scurvy
sea-blue histiocyte disease
seasonal affective disorder, susceptibility to
sebaceous tumors, somatic
sebastian syndrome
seborrhea-like dermatitis with psoriasiform elements
seckel syndrome 1
seckel syndrome 2
seckel syndrome 3
seckel syndrome 4
seckel syndrome 5
seckel syndrome 6
seckel syndrome 7
sed congenita
sed, maroteaux type
sed, namaqualand type
segawa syndrome, recessive
seizures, benign familial infantile, 2
seizures, benign familial infantile, 3
seizures, benign familial infantile
seizures, benign neonatal, 1
seizures, benign neonatal, type 2
selective t-cell defect
sengers syndrome
senior-loken syndrome 3
senior-loken syndrome 4
senior-loken syndrome 5
senior-loken syndrome 6
senior-loken syndrome 7
senior-loken syndrome-1
sensorineural deafness with mild renal dysfunction
sepsis, susceptibility to
septic shock, susceptibility to
septooptic dysplasia
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 with microcephaly, growth retardation, and sensitivity to ionizing radiation
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, athabascan type
severe combined immunodeficiency, b cell-negative
severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive
severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type
severe combined immunodeficiency, x-linked
sex hormone-binding blobulin circulating level qtl 1
sezary syndrome, somatic,
sfm syndrome, somatic mosaic
shaheen syndrome
short qt syndrome 1
short qt syndrome 2
short qt syndrome 3
short sleeper
short stature, idiopathic familial
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
short stature, optic nerve atrophy, and pelger-huet anomaly
short stature
short syndrome
short-rib thoracic dysplasia 1 with or without polydactyly
short-rib thoracic dysplasia 10 with or without polydactyly
short-rib thoracic dysplasia 11 with or without polydactyly
short-rib thoracic dysplasia 2 with or without polydactyly
short-rib thoracic dysplasia 3 with or without polydactyly
short-rib thoracic dysplasia 4 with or without polydactyly
short-rib thoracic dysplasia 5 with or without polydactyly
short-rib thoracic dysplasia 6 with or without polydactyly
short-rib thoracic dysplasia 7 with or without polydactyly
short-rib thoracic dysplasia 8 with or without polydactyly
short-rib thoracic dysplasia 9 with or without polydactyly
shprintzen-goldberg syndrome
shwachman-bodian-diamond syndrome
sialic acid storage disorder, infantile
sialidosis, type ii
sialidosis, type i
sialuria
sick sinus syndrome 1
sick sinus syndrome 2
sick sinus syndrome 3
sickle cell anemia
silver spastic paraplegia syndrome
silver-russell syndrome
simpson-golabi-behmel syndrome, type 1
simpson-golabi-behmel syndrome, type 2
single median maxillary central incisor
sinoatrial node dysfunction and deafness
sitosterolemia
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 1, blue/nonblue eyes
skin/hair/eye pigmentation 10, blond/brown hair
skin/hair/eye pigmentation 11, blue/nonblue eyes
skin/hair/eye pigmentation 2, blond hair/fair skin
skin/hair/eye pigmentation 2, red hair/fair skin
skin/hair/eye pigmentation 3, blue/green eyes
skin/hair/eye pigmentation 3, light/dark/freckling skin
skin/hair/eye pigmentation 4, fair/dark skin
skin/hair/eye pigmentation 5, black/nonblack hair
skin/hair/eye pigmentation 5, dark/fair skin
skin/hair/eye pigmentation 5, dark/light eyes
skin/hair/eye pigmentation 6, blond/brown hair
skin/hair/eye pigmentation 6, blue/green eyes
skin/hair/eye pigmentation 7, blond/brown hair
skin/hair/eye pigmentation 8, freckling
skin/hair/eye pigmentation 9, brown/nonbrown eyes
skin/hair/eye pigmentation 9, dark/light hair
skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)
sle susceptibility
slowed nerve conduction velocity, ad
small cell cancer of the lung, somatic
small fiber neuropathy
small patella syndrome
small-cell cancer of lung
smed strudwick type
smith-lemli-opitz syndrome
smith-magenis syndrome
smith-mccort dysplasia 2
smith-mccort dysplasia
smoking as a quantitative trait locus 1
smoking as a quantitative trait locus 2
snowflake vitreoretinal degeneration
social cognition
sodium serum level qtl 1
somatostatin analog, resistance to
sorsby fundus dystrophy
sotos syndrome 1
sotos syndrome 2
spastic ataxia 1, autosomal dominant
spastic ataxia 2, autosomal recessive
spastic ataxia 3, autosomal recessive
spastic ataxia, charlevoix-saguenay type
spastic paralysis, infantile onset ascending
spastic paraplegia 10, autosomal dominant
spastic paraplegia 11, autosomal recessive
spastic paraplegia 12, autosomal dominant
spastic paraplegia 13, autosomal dominant
spastic paraplegia 14, autosomal recessive
spastic paraplegia 15, autosomal recessive
spastic paraplegia 16, x-linked, complicated
spastic paraplegia 18, autosomal recessive
spastic paraplegia 19, autosomal dominant
spastic paraplegia 2, x-linked
spastic paraplegia 24, autosomal recessive
spastic paraplegia 25, autosomal recessive
spastic paraplegia 26, autosomal recessive
spastic paraplegia 27, autosomal recessive
spastic paraplegia 28, autosomal recessive
spastic paraplegia 29, autosomal dominant
spastic paraplegia 30, autosomal recessive
spastic paraplegia 31, autosomal dominant
spastic paraplegia 32, autosomal recessive
spastic paraplegia 33, autosomal dominant
spastic paraplegia 34, x-linked
spastic paraplegia 35, autosomal recessive
spastic paraplegia 36, autosomal dominant
spastic paraplegia 37, autosomal dominant
spastic paraplegia 38, autosomal dominant
spastic paraplegia 39, autosomal recessive
spastic paraplegia 3a, autosomal dominant
spastic paraplegia 4, autosomal dominant
spastic paraplegia 41, autosomal dominant
spastic paraplegia 42, autosomal dominant
spastic paraplegia 43, autosomal recessive
spastic paraplegia 44, autosomal recessive
spastic paraplegia 45, autosomal recessive
spastic paraplegia 46, autosomal recessive
spastic paraplegia 47, autosomal recessive
spastic paraplegia 48, autosomal recessive
spastic paraplegia 49, autosomal recessive
spastic paraplegia 50, autosomal recessive
spastic paraplegia 51, autosomal recessive
spastic paraplegia 52, autosomal recessive
spastic paraplegia 53, autosomal recessive
spastic paraplegia 54, autosomal recessive
spastic paraplegia 55, autosomal recessive
spastic paraplegia 56, autosomal recessive
spastic paraplegia 5a, autosomal recessive
spastic paraplegia 6, autosomal dominant
spastic paraplegia 7, autosomal recessive
spastic paraplegia 72, autosomal dominant
spastic paraplegia 72, autosomal recessive
spastic paraplegia 8, autosomal dominant
spastic paraplegia 9, autosomal dominant
spastic paraplegia, optic atrophy, and neuropathy
specific granule deficiency
specific language impairment 4
specific language impairment 5
specific language impairment qtl
speech-language disorder-1
speech-sound disorder
spermatocytic seminoma, somatic
spermatogenic failure 10
spermatogenic failure 11
spermatogenic failure 12
spermatogenic failure 2
spermatogenic failure 3
spermatogenic failure 4
spermatogenic failure 5
spermatogenic failure 6
spermatogenic failure 7
spermatogenic failure 8
spermatogenic failure 9
spermatogenic failure, susceptibility to
spermatogenic failure, x-linked
spermatogenic failure, y-linked, 2
spermatogenic failure, y-linked
spherocytosis, hereditary, type 5
spherocytosis, type 1
spherocytosis, type 2
spherocytosis, type 3
spherocytosis, type 4
spiegler-brooke syndrome
spina bifida, folate-sensitive, susceptibility to
spina bifida, susceptibility to
spinal and bulbar muscular atrophy of kennedy
spinal muscular atrophy with progressive myoclonic epilepsy
spinal muscular atrophy, chronic distal, autosomal recessive
spinal muscular atrophy, distal, autosomal recessive, 4
spinal muscular atrophy, distal, autosomal recessive, 5
spinal muscular atrophy, distal, congenital nonprogressive
spinal muscular atrophy, distal, x-linked 3
spinal muscular atrophy, jokela type
spinal muscular atrophy, late-onset, finkel type
spinal muscular atrophy, lower extremity-predominant, 2, ad
spinal muscular atrophy, lower extremity-predominant, ad
spinal muscular atrophy, type iii, modifier of
spinal muscular atrophy, x-linked 2, infantile
spinal muscular atrophy-1
spinal muscular atrophy-2
spinal muscular atrophy-3
spinal muscular atrophy-4
spinocerebellar ataxia 10
spinocerebellar ataxia 11
spinocerebellar ataxia 12
spinocerebellar ataxia 13
spinocerebellar ataxia 14
spinocerebellar ataxia 15
spinocerebellar ataxia 17
spinocerebellar ataxia 18
spinocerebellar ataxia 19
spinocerebellar ataxia 1
spinocerebellar ataxia 20
spinocerebellar ataxia 21
spinocerebellar ataxia 23
spinocerebellar ataxia 25
spinocerebellar ataxia 26
spinocerebellar ataxia 27
spinocerebellar ataxia 28
spinocerebellar ataxia 29, congenital nonprogressive
spinocerebellar ataxia 2
spinocerebellar ataxia 30
spinocerebellar ataxia 31
spinocerebellar ataxia 32
spinocerebellar ataxia 34
spinocerebellar ataxia 35
spinocerebellar ataxia 36
spinocerebellar ataxia 4
spinocerebellar ataxia 5
spinocerebellar ataxia 6
spinocerebellar ataxia 7
spinocerebellar ataxia 8
spinocerebellar ataxia, autosomal recessive 10
spinocerebellar ataxia, autosomal recessive 11
spinocerebellar ataxia, autosomal recessive 12
spinocerebellar ataxia, autosomal recessive 13
spinocerebellar ataxia, autosomal recessive 14
spinocerebellar ataxia, autosomal recessive 2
spinocerebellar ataxia, autosomal recessive 3
spinocerebellar ataxia, autosomal recessive 4
spinocerebellar ataxia, autosomal recessive 5
spinocerebellar ataxia, autosomal recessive 6
spinocerebellar ataxia, autosomal recessive 7
spinocerebellar ataxia, autosomal recessive 8
spinocerebellar ataxia, autosomal recessive with axonal neuropathy
spinocerebellar ataxia, x-linked 1
spinocerebellar ataxia, x-linked 5
split hand/foot malformation 1
split hand/foot malformation 2
split-hand/foot malformation 1 with sensorineural hearing loss
split-hand/foot malformation 3, gene duplication syndrome
split-hand/foot malformation 4
split-hand/foot malformation 5
split-hand/foot malformation 6
split-hand/foot malformation with long bone deficiency 1
split-hand/foot malformation with long bone deficiency 2
split-hand/foot malformation with long bone deficiency 3
spondylo-megaepiphyseal-metaphyseal dysplasia
spondyloarthropathy, susceptibility to, 1
spondyloarthropathy, susceptibility to, 2
spondyloarthropathy, susceptibility to, 3
spondylocarpotarsal synostosis syndrome
spondylocheirodysplasia, ehlers-danlos syndrome-like
spondylocostal dysostosis 1, autosomal recessive
spondylocostal dysostosis 2, autosomal recessive
spondylocostal dysostosis 3, autosomal recessive
spondylocostal dysostosis 4, autosomal recessive
spondylocostal dysostosis 5, autosomal dominant
spondyloenchondrodysplasia with immune dysregulation
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
spondyloepimetaphyseal dysplasia with joint laxity, type 2
spondyloepimetaphyseal dysplasia, aggrecan type
spondyloepimetaphyseal dysplasia, missouri type
spondyloepimetaphyseal dysplasia
spondyloepiphyseal dysplasia tarda with progressive arthropathy
spondyloepiphyseal dysplasia tarda
spondyloepiphyseal dysplasia with congenital joint dislocations
spondyloepiphyseal dysplasia, kimberley type
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia, kozlowski type
spondyloperipheral dysplasia
sprinting performance
squamous cell carcinoma, burn scar-related, somatic
squamous cell carcinoma, head and neck, somatic
squamous cell carcinoma, head and neck
stapes ankylosis with broad thumb and toes
star syndrome
stargardt disease 1
stargardt disease 3
stargardt disease 4
statins, attenuated cholesterol lowering by
stature qtl 1
stature qtl 10
stature qtl 11
stature qtl 12
stature qtl 13
stature qtl 14
stature qtl 15
stature qtl 16
stature qtl 17
stature qtl 18
stature qtl 19
stature qtl 2
stature qtl 20
stature qtl 21
stature qtl 22
stature qtl 23
stature qtl 24
stature qtl 3
stature qtl 4
stature qtl 5
stature qtl 6
stature qtl 7
stature qtl 8
stature qtl 9
steatocystoma multiplex
stevens-johnson syndrome, susceptibility to
stickler sydrome, type i, nonsyndromic ocular
stickler syndrome, type iii
stickler syndrome, type ii
stickler syndrome, type iv
stickler syndrome, type i
stickler syndrome, type v
stiff skin syndrome
stocco dos santos x-linked mental retardation syndrome
stomatocytosis i
strabismus, susceptibility to, 1
striatal degeneration, autosomal dominant
striatonigral degeneration, infantile
stroke, hemorrhagic
stroke, ischemic, susceptibility to
stroke, susceptibility to, 1
stroke, susceptibility to
sturge-weber syndrome, somatic, mosaic
stuttering, familial persistent 1
stuttering, familial persistent 2
stuttering, familial persistent
stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome
subcortical laminal heteropia, x-linked
subcortical laminar heterotopia
sublingual nitroglycerin, susceptibility to poor response to
succinic semialdehyde dehydrogenase deficiency
succinyl coa:3-oxoacid coa transferase deficiency
sucrase-isomaltase deficiency, congenital
sudden infant death syndrome, susceptibility to
sudden infant death with dysgenesis of the testes syndrome
sulfite oxidase deficiency
supernumerary der(22)t(8-22) syndrome
superoxide dismutase, elevated extracellular
supranuclear palsy, progressive atypical
supranuclear palsy, progressive
supravalvar aortic stenosis
surfactant metabolism dysfunction, pulmonary, 1
surfactant metabolism dysfunction, pulmonary, 2
surfactant metabolism dysfunction, pulmonary, 3
surfactant metabolism dysfunction, pulmonary, 4
surfactant metabolism dysfunction, pulmonary, 5
sveinsson choreoretinal atrophy
sweat chloride elevation without cf
symphalangism, proximal, 1b
symphalangism, proximal
syndactyly, type 1
syndactyly, type iii
syndactyly, type iv
syndactyly, type v
synesthesia
synovitis, chronic, susceptibility to
synpolydactyly 3
synpolydactyly with foot anomalies
synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses
synpolydactyly, type ii
systemic lupus erthematosus, susceptibility to, 15
systemic lupus erythematosus 16
systemic lupus erythematosus susceptibility to
systemic lupus erythematosus with hemolytic anemia
systemic lupus erythematosus with nephritis, susceptibility to, 1
systemic lupus erythematosus with nephritis, susceptibility to, 2
systemic lupus erythematosus with nephritis, susceptibility to, 3
systemic lupus erythematosus, association with
systemic lupus erythematosus, resistance to
systemic lupus erythematosus, susceptibility to or protection against
systemic lupus erythematosus, susceptibility to, 10
systemic lupus erythematosus, susceptibility to, 12
systemic lupus erythematosus, susceptibility to, 13
systemic lupus erythematosus, susceptibility to, 14
systemic lupus erythematosus, susceptibility to, 1
systemic lupus erythematosus, susceptibility to, 2
systemic lupus erythematosus, susceptibility to, 3
systemic lupus erythematosus, susceptibility to, 4
systemic lupus erythematosus, susceptibility to, 5
systemic lupus erythematosus, susceptibility to, 7
systemic lupus erythematosus, susceptibility to, 8
systemic lupus erythematosus, susceptibility to, 9
systemic lupus erythematosus, susceptibility to
systemic lupus erythematosus, susceptitbility to, 11
systemic lupus erythematous, association with susceptibility to, 6
t-cell acute lymphoblastic leukemia
t-cell immunodeficiency, congenital alopecia, and nail dystrophy
t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
t-cell prolymphocytic leukemia, somatic
tangier disease
tarp syndrome
tarsal-carpal coalition syndrome
tauopathy and respiratory failure
tay-sachs disease
telangiectasia, hereditary benign
telangiectasia, hereditary hemorrhagic, type 1
telangiectasia, hereditary hemorrhagic, type 2
telangiectasia, hereditary hemorrhagic, type 3
telangiectasia, hereditary hemorrhagic, type 4
telangiectasia, hereditary hemorrhagic, type 5
telomere length, mean leukocyte
temtamy preaxial brachydactyly syndrome
temtamy syndrome
terminal osseous dysplasia
testicular anomalies with or without congenital heart disease
testicular germ cell tumor
testicular microlithiasis
testicular tumor, somatic
tetra-amelia, autosomal recessive
tetralogy of fallot
tetramelic mirror-image polydactyly
tetrasomy 18p
tetrology of fallot
thalassemia due to hb lepore
thalassemia, alpha-
thalassemia, delta-
thalassemia, hispanic gamma-delta-beta
thalassemia-beta, dominant inclusion-body
thalassemias, alpha-
thalassemias, beta-
thanatophoric dysplasia, type ii
thanatophoric dysplasia, type i
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
thiamine-responsive megaloblastic anemia syndrome
thoracoabdominal syndrome
three m syndrome 3
thrombocythemia 1
thrombocythemia 2
thrombocythemia 3
thrombocythemia, somatic
thrombocythemia, x-linked
thrombocytopenia 2
thrombocytopenia 4
thrombocytopenia with beta-thalassemia, x-linked
thrombocytopenia, congenital amegakaryocytic
thrombocytopenia, neonatal alloimmune
thrombocytopenia, neonatal alloimmune, bak antigen related
thrombocytopenia, paris-trousseau type
thrombocytopenia, x-linked, intermittent
thrombocytopenia, x-linked, with or without dyserythropoietic anemia
thrombocytopenia, x-linked
thrombocytopenia-2
thrombocytopenia-absent radius syndrome
thrombocytopenic purpura, autoimmune
thromboembolism, susceptibility to
thrombophilia due to activated protein c resistance
thrombophilia due to antithrombin iii deficiency
thrombophilia due to decreased release of tissue plasminogen
thrombophilia due to elevated hrg
thrombophilia due to heparin cofactor ii deficiency
thrombophilia due to hrg deficiency
thrombophilia due to protein c deficiency, autosomal dominant
thrombophilia due to protein c deficiency, autosomal recessive
thrombophilia due to protein s deficiency, autosomal dominant
thrombophilia due to protein s deficiency, autosomal recessive
thrombophilia due to thrombin defect
thrombophilia due to thrombomodulin defect
thrombophilia, dysfibrinogenemic
thrombophilia, dysplasminogenemic
thrombophilia, familial, due to decreased release of plat
thrombophilia, susceptibility to, due to factor v leiden
thrombophilia, x-linked, due to factor ix defect
thrombosis, hyperhomocysteinemic
thrombotic thrombocytopenic purpura, familial
thromboxane synthase deficiency
thryoid dyshormonogenesis 6
thyroid adenoma, hyperfunctioning, somatic
thyroid carcinoma with thyrotoxicosis
thyroid carcinoma, follicular, somatic
thyroid carcinoma, follicular
thyroid carcinoma, hurthle cell
thyroid carcinoma, nonmedullary, with cell oxyphilia
thyroid carcinoma, nonmedullary
thyroid carcinoma, papillary, somatic
thyroid carcinoma, papillary, with papillary renal neoplasia
thyroid carcinoma, papillary
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 2a
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
thyroid dyshormonogenesis 5
thyroid hormone metabolism, abnormal
thyroid hormone resistance, autosomal recessive
thyroid hormone resistance, selective pituitary
thyroid hormone resistance
thyroid papillary carcinoma
thyroid-stimulating hormone level qtl 1
thyrotoxic periodic paralysis, susceptibility to, 1
thyrotoxic periodic paralysis, susceptibility to, 2
thyrotropin-releasing hormone deficiency
thyrotropin-releasing hormone resistance, generalized
thyroxine-binding globulin deficiency
tibial hemimelia
tibial muscular dystrophy, tardive
tietz albinism-deafness syndrome
timothy syndrome
tn polyagglutination syndrome, somatic
toenail dystrophy, isolated
tolbutamide poor metabolizer
tooth agenesis, selective, 1, with or without orofacial cleft
tooth agenesis, selective, 3
tooth agenesis, selective, 4
tooth agenesis, selective, 6
tooth agenesis, selective, x-linked 1
tooth agenesis, selective
total anomalous pulmonary venous return
tourette syndrome
townes-brocks branchiootorenal-like syndrome
townes-brocks syndrome
toxic epidermal necrolysis, susceptibility to
transaldolase deficiency
transcobalamin ii deficiency
transcription of plasminogen activator inhibitor, modulator of
transferrin serum level qtl2
transient bullous of the newborn
transient erythroblastopenia of childhood
transposition of great arteries, dextro-looped 3
transposition of the great arteries, dextro-looped 1
transposition of the great arteries, dextro-looped 2
treacher collins syndrome 1
treacher collins syndrome 2
treacher collins syndrome 3
trehalase deficiency
tremor, hereditary essential, 4
tremor, hereditary essential
trichilemmal cyst 1
trichodontoosseous syndrome
trichoepithelioma, multiple familial, 1
trichoepithelioma, multiple familial
trichohepatoenteric syndrome 1
trichohepatoenteric syndrome 2
trichorhinophalangeal syndrome, type ii
trichorhinophalangeal syndrome, type iii
trichorhinophalangeal syndrome, type i
trichothiodystrophy, complementation group a
trichothiodystrophy, nonphotosensitive 1
trichothiodystrophy
trichotillomania
trifunctional protein deficiency
trigonocephaly 1
trigonocephaly 2
trimethylaminuria
triphalangeal thumb, type i
triphalangeal thumb-polysyndactyly syndrome
trismus-pseudocamptodactyly syndrome
tropical calcific pancreatitis
troyer syndrome
trypsinogen deficiency
tsc2 angiomyolipomas, renal, modifier of
tuberculin skin test reactivity qtl
tuberculin skin test reactivity, absence of
tuberculosis, protection against
tuberculosis, susceptibility to
tuberous sclerosis-1
tuberous sclerosis-2
tukel syndrome
tumor predisposition syndrome
tumoral calcinosis, familial, normophosphatemic
tumoral calcinosis, hyperphosphatemic, familial
tumoral calcinosis, hyperphosphatemic
turner syndrome-associated neurocognitive phenotype
tylosis with esophageal cancer
tyrosine kinase 2 deficiency
tyrosinemia, type ib
tyrosinemia, type iii
tyrosinemia, type ii
tyrosinemia, type i
ullrich congenital muscular dystrophy
ulna and fibula, absence of, with severe limb deficiency
ulnar-mammary syndrome
unipolar depression, susceptibility to
urate oxidase deficiency
urbach-wiethe disease
uric acid concentration, serum, qtl 2
uric acid concentration, serum, qtl1
uric acid concentration, serum, qtl4
uric acid concentration, serum, qtl5
uric acid concentration, serum, qtl6
urocanase deficiency
urofacial syndrome 1
urofacial syndrome 2
urogenital adysplasia
usher syndrome type 3b
usher syndrome, type 1b
usher syndrome, type 1c
usher syndrome, type 1d/f digenic
usher syndrome, type 1d
usher syndrome, type 1e
usher syndrome, type 1f
usher syndrome, type 1g
usher syndrome, type 1h
usher syndrome, type 2a
usher syndrome, type 2c, gpr98/pdzd7 digenic
usher syndrome, type 2c
usher syndrome, type 2d
usher syndrome, type 3a
usher syndrome, type iic, gpr98/pdzd7 digenic
usher syndrome, type ij
usher syndrome, type ik
uv-induced skin damage
uv-sensitive syndrome 1
uv-sensitive syndrome 2
uv-sensitive syndrome 3
vacterl association, x-linked
vacterl association
van buchem disease, type 2
van buchem disease
van den ende-gupta syndrome
van der woude syndrome 2
van der woude syndrome
van maldergem syndrome 1
van maldergem syndrome 2
vascular disease, susceptibility to
vasculopathy, retinal, with cerebral leukodystrophy
vater association with macrocephaly and ventriculomegaly
velocardiofacial syndrome
venoocclusive disease after bone marrow transplantation
venous malformations, multiple cutaneous and mucosal
venous thromboembolism, susceptibility to
venous thrombosis, protection against
venous thrombosis, susceptibility to
ventricular fibrillation, familial, 1
ventricular fibrillation, paroxysmal familial, 2
ventricular septal defect 1
ventricular septal defect 2
ventricular septal defect 3
ventricular tachycardia, catecholaminergic polymorphic, 1
ventricular tachycardia, catecholaminergic polymorphic, 2
ventricular tachycardia, catecholaminergic polymorphic, 4
ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
ventricular tachycardia, catecholaminergic polymorphic
ventricular tachycardia, idiopathic
verheij syndrome
vertical talus, congenital
vertigo, benign recurrent
vesicoureteral reflux 2
vesicoureteral reflux 3
vesicoureteral reflux 4
vesicoureteral reflux 5
vesicoureteral reflux 6
vesicoureteral reflux 7
vesicoureteral reflux
vestibulopathy, familial
vici syndrome
viral infection, susceptibility to
viral infections, recurrent
visuospatial/perceptual abilities
vitamin b12 plasma level qtl1
vitamin b6 plasma level qtl 1
vitamin d-dependent rickets, type i
vitamin k-dependent clotting factors, combined deficiency of, 2
vitamin k-dependent coagulation defect
vitelliform macular dystrophy, adult-onset
vitiligo-associated multiple autoimmune disease susceptibility 1
vitiligo-associated multiple autoimmune disease susceptiblity 6
vitreoretinochoroidopathy
vitreoretinopathy with phalangeal epiphyseal dysplasia
vitreoretinopathy, neovascular inflammatory
vlcad deficiency
vohwinkel syndrome with ichthyosis
vohwinkel syndrome
von hippel-lindau syndrome, modifier of
von hippel-lindau syndrome
von willebrand disease, platelet-type
von willebrand disease, type 1
von willebrand disease, types 2a, 2b, 2m, and 2n
von willibrand disease, type 3
waardenburg syndrome, type 1
waardenburg syndrome, type 2a
waardenburg syndrome, type 2b
waardenburg syndrome, type 2c
waardenburg syndrome, type 2d
waardenburg syndrome, type 2e, with or without neurologic involvement
waardenburg syndrome, type 3
waardenburg syndrome, type 4a
waardenburg syndrome, type 4b
waardenburg syndrome, type 4c
waardenburg syndrome/albinism, digenic
waardenburg syndrome/ocular albinism, digenic
wagner syndrome 1
wagro syndrome
waisman parkinsonism-mental retardation syndrome
warburg micro syndrome 1
warburg micro syndrome 2
warburg micro syndrome 3
warfarin resistance
warfarin sensitivity
warsaw breakage syndrome
watson syndrome
weaver syndrome
wegener granulomatosis
wegener-like granulomatosis
weill-marchesani syndrome 1, recessive
weill-marchesani syndrome 2, dominant
weill-marchesani syndrome 3, recessive
weill-marchesani-like syndrome
weissenbacher-zweymuller syndrome
welander distal myopathy
werner syndrome
west nile virus, susceptibility to
weyers acrodental dysostosis
whim syndrome
white blood cell count qtl
white sponge nevus
wieacker-wolf syndrome
wiedemann-steiner syndrome
williams-beuren syndrome
wilms tumor 2
wilms tumor susceptibility-5
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
wilms tumor, somatic
wilms tumor, type 1
wilms tumor, type 3
wilms tumor, type 4
wilms tumor
wilson disease
wilson-turner syndrome
winchester syndrome
wiskott-aldrich syndrome 2
wiskott-aldrich syndrome
wolcott-rallison syndrome
wolf-hirschhorn syndrome
wolff-parkinson-white syndrome
wolfram syndrome 2
wolfram syndrome
wolfram-like syndrome, autosomal dominant
wolman disease
wood neuroimmunologic syndrome
woodhouse-sakati syndrome
woolly hair, autosomal dominant
woolly hair, autosomal recessive 1, with or without hypotrichosis
woolly hair, autosomal recessive 2 with or without hypotrichosis
wrinkly skin syndrome
x inactivation, familial skewed
x-inactivation, familial skewed
xanthinuria, type i
xeroderma pigmentosum, group a
xeroderma pigmentosum, group b
xeroderma pigmentosum, group c
xeroderma pigmentosum, group d
xeroderma pigmentosum, group e, ddb-negative subtype
xeroderma pigmentosum, group f
xeroderma pigmentosum, group g/cockayne syndrome
xeroderma pigmentosum, group g
xeroderma pigmentosum, type f/cockayne syndrome
xeroderma pigmentosum, variant type
xfe progeroid syndrome
yunis-varon syndrome
zimmermann-laband syndrome
zinc deficiency, transient neonatal
zygodactyly 1
pMetaboltePredict
gMetaboltePredict
Chemical/Metabolite
Jaccard
Cosine
Overlap
chebi:295423
0.0
0.0
0.0
pyrido[4,3-d]pyrimidine
0.0
0.0
0.0
chembl17194
0.0
0.0
0.0
chebi:439559
0.0
0.0
0.0
chebi:471080
0.0
0.0
0.0
chebi:334337
0.0
0.0
0.0
chembl25391
0.0
0.0
0.0
chebi:319156
0.0
0.0
0.0
chebi:703037
0.0
0.0
0.0
aht
0.0
0.0
0.0
384
385
386
387
388
389
390
391
392
393
