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Polypharmacological Target Prediction
ⓘ
Diseases
11p partial monosomy syndrome
11p11.2 deletion syndrome
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21 microdeletion syndrome
14q11.2 microduplication syndrome
15q11.2 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q24 microdeletion
15q24 microdeletion syndrome
16p13.2 microdeletion syndrome
16q24.3 microdeletion syndrome
17 alpha-hydroxyprogesterone aldolase deficiency
17,20-lyase deficiency
17-beta-hydroxysteroid dehydrogenase deficiency
17p11.2 microduplication syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p36 deletion syndrome
1p36.33 duplication syndrome
1q44 microdeletion syndrome
2,4-dienoyl-coa reductase deficiency
2,8-dihydroxyadenine urolithiasis
2-aminoadipic 2-oxoadipic aciduria
2-methylbutyryl-coa dehydrogenase deficiency
20p12.3 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11 deletion syndrome
22q11.2 deletion syndrome
22q13 monosomy syndrome
22q13.3 deletion syndrome
2q37 microdeletion syndrome
3-hydroxyacyl-coa dehydrogenase deficiency
3-hydroxyisobutyric aciduria
3-hydroxyisobutyryl-coa hydrolase deficiency
3-methylcrotonyl-coa carboxylase deficiency
3-methylglutaconic aciduria
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome
3m syndrome
3mc syndrome
46, xx disorder of sex development
46, xx gonadal dysgenesis
46, xx ovotesticular disorder of sex development
46, xx sex reversal
46, xy complete gonadal dysgenesis
46, xy disorder of sex development
46, xy partial gonadal dysgenesis
46, xy sex reversal
5-oxoprolinase deficiency
8q24.3 microdeletion syndrome
Aapoai amyloidosis
Aarskog-scott syndrome, x-linked
Abcd syndrome
Abeta amyloidosis
Abetalipoproteinemia
Ablepharon macrostomia syndrome
Abri amyloidosis
Abruzzo-erickson syndrome
Absence epilepsy
Absence of fingerprints-congenital milia syndrome
Acantholytic blistering of oral and laryngeal mucosa
Acatalasia
Acces syndrome
Accessory skin tag
Aceruloplasminemia
Acetyl-coa acetyltransferase deficiency
Acetyl-coa carboxylase deficiency
Acheiropody
Achondrogenesis
Achondroplasia
Achromatopsia
Acid sphingomyelinase deficiency
Acne inversa
Acral peeling skin syndrome
Acral self-healing collodion baby
Acro-dermo-ungual-lacrimal-tooth syndrome
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrodermatitis enteropathica
Acrodysostosis
Acrofacial dysostosis
Acrokeratosis verruciformis
Acromegaloid facial appearance syndrome
Acromegaly
Acromelic frontonasal dysostosis
Acromesomelic dysplasia
Acroosteolysis
Activated pi3k-delta syndrome
Acute disseminated encephalomyelitis
Acyl-coa binding domain containing protein deficiency
Acyl-coa dehydrogenase deficiency
Acys amyloidosis
Adams-oliver syndrome
Adenine phosphoribosyltransferase deficiency
Adenoid cystic carcinoma
Adenoiditis
Adenomatous polyposis
Adenosine deaminase 2 deficiency
Adenosine kinase deficiency
Adenylosuccinate lyase deficiency
Adrenal gland neoplasms
Adrenocortical carcinoma
Adrenoleukodystrophy
Adult myoclonic epilepsy
Adult polyglucosan body disease
Adult-onset dystonia-parkinsonism
Adult-onset proximal spinal muscular atrophy
Advanced sleep phase syndrome
Advanced sleep-phase syndrome
Afibrinogenemia
Agammaglobulinemia
Agat deficiency
Age-related macular degeneration
Agenesis of corpus callosum
Agnathia-otocephaly
Aica-ribosiduria
Aicardi goutieres syndrome
Aicardi syndrome
Al kaissi syndrome
Al-raqad syndrome
Alagille syndrome
Aland island eye disease
Alanine-glyoxylate aminotransferase deficiency
Alazami-yuan syndrome
Albinism
Alcoholic hepatitis
Aldosterone-producing adenoma
Alexander disease
Alkaptonuria
Alkuraya-kucinskas syndrome
Allan-herndon-dudley syndrome
Allergic contact dermatitis
Alopecia universalis
Alopecia-intellectual disability syndrome
Alopecia-neurological defects-endocrinopathy syndrome
Alpha thalassemia
Alpha thalassemia x-linked intellectual disability
Alpha-1 antichymotrypsin deficiency
Alpha-1 antitrypsin deficiency
Alpha-2-plasmin inhibitor deficiency
Alpha-actinopathy
Alpha-mannosidase deficiency
Alpha-mannosidosis
Alpha-methylacyl-coa racemase deficiency
Alpha-n-acetylgalactosaminidase deficiency
Alport syndrome
Alport syndrome, x-linked
Alstrom syndrome
Alternating hemiplegia of childhood
Alveolar capillary dysplasia
Alys amyloidosis
Alzahrani-kuwahara syndrome
Alzheimer disease
Amaurosis hypertrichosis
Ambiguous genitalia
Amblyopia
Amed syndrome
Amegakaryocytic thrombocytopenia
Amelia
Ameloblastoma
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta
Amenorrhea
Amino acid metabolism disorder
Aminoaciduria
Aminoacylase deficiency
Aminoglycoside-induced deafness
Amish brittle hair brain syndrome
Amish infantile epilepsy syndrome
Amish lethal microcephaly
Amish nemaline myopathy
Amnesia
Amphetamine or sympathomimetic abuse
Amr syndrome
Amyloid angiopathy
Amyloid neuropathy
Amyloid polyneuropathy
Amyloidosis
Amyotrophic lateral sclerosis
Anal polyp
Analbuminemia
Anaphylatoxin inactivator deficiency
Anaphylaxis
Anaplasia
Anaplastic astrocytoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anaptoglobinemia
Anastomosing haemangioma
Anauxetic dysplasia
Andersen-tawil syndrome
Androgen insensitivity syndrome
Androgenetic alopecia
Anemia
Anemia, x-linked
Anencephaly
Aneuploidy
Aneurysm
Angel-shaped phalangoepiphyseal dysplasia
Angelman syndrome
Angina pectoris
Angiocentric glioma
Angioedema
Angiofollicular ganglionic hyperplasia
Angiokeratoma
Angiolymphoid hyperplasia
Angiomatoid fibrous histiocytoma
Angle closure glaucoma
Anhedonia
Anhidrotic ectodermal dysplasia
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema
Anhydramnios
Aniridia
Aniridia-cerebellar ataxia-intellectual disability syndrome
Anisometropia
Ankle fracture
Ankyloblepharon-ectodermal defects-cleft lip/palate
Ankylosing spondylitis
Ankylosis
Annular epidermolytic ichthyosis
Anodontia
Anomalous pulmonary venous
Anonychia
Anophthalmia
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anorectal malformation
Anorexia
Anorexia nervosa
Anosmia
Anovulation
Antecubital pterygium syndrome
Anterior compartment syndrome
Anterior cruciate ligament injury
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Anterior pituitary function deficiency with variable immunodeficiency
Anterior polar cataract
Anterior segment dysgenesis
Anterior segment mesenchymal dysgenesis
Anterior uveitis
Anti-glomerular basement membrane disease
Anti-neutrophil antibody associated vasculitis
Anti-nmda receptor encephalitis
Antibody deficiency
Antiphospholipid syndrome
Antisocial personality disorder
Antithrombin deficiency
Antley-bixler syndrome
Anuria
Anus neoplasms
Anxiety disorder
Aortic aneurysm
Aortic arch syndrome
Aortic atherosclerosis
Aortic disease
Aortic dissection
Aortic rupture
Aortic stenosis
Aortic valve disease
Aortic valve stenosis
Ap-4 deficiency syndrome
Ap4-related intellectual disability and spastic paraplegia
Apert syndrome
Aphasia
Aphthous stomatitis
Aplasia and myelodysplasia
Aplasia cutis congenita
Aplasia cutis congenita with epibulbar dermoids
Aplasia cutis-enamel dysplasia syndrome
Aplasia of lacrimal and salivary glands
Aplasia of the vermis
Aplastic anemia
Apnea
Apoceruloplasmin deficiency
Apolipoprotein a-i amyloidosis
Apolipoprotein a-i deficiency
Apolipoprotein a-ii amyloidosis
Apolipoprotein a-ii deficiency
Apolipoprotein a5 deficiency
Apolipoprotein b hypobetalipoproteinemia
Apolipoprotein c-ii deficiency
Apolipoprotein c-iii deficiency
Apolipoprotein c2 deficiency
Appendicitis
Apraxia
Aprosencephaly
Arachnodactyly
Arachnoid cysts
Arboleda-tham syndrome
Arginase deficiency
Arginine vasopressin deficiency
Arginine vasopressin resistance
Arginine-glycine amidinotransferase deficiency
Argininosuccinic aciduria
Arhinia-choanal atresia-microphthalmia syndrome
Arima syndrome
Aromatic l-amino-acid decarboxylase deficiency
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia
Arterial occlusive disease
Arterial tortuosity syndrome
Arteriosclerosis
Arteriovenous hemangioma
Arteriovenous malformations
Arteritis
Arthralgia
Arthritis
Arthrogryposis
Arthrogryposis multiplex congenita
Arthrogryposis with anterior horn cell disease
Arthrogryposis with ectodermal dysplasia
Arthrogryposis with neurodevelopmental impairment and seizures
Arthrogryposis with oculomotor limitation and retinal anomalies
Arthrogryposis with perthes disease and gaze palsy
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arthropathy
Arts syndrome
Asbestosis
Asperger syndrome
Asphyxia
Asplenia
Asthenia
Asthenozoospermia
Asthma
Astigmatism
Astrocytoma
Asymmetric crying face association
Asymmetric septal hypertrophy
Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome
Ataxia
Ataxia telangiectasia
Ataxia with deafness and vision loss
Ataxia with hearing loss and diabetes mellitus
Ataxia with intention tremor and hypotonia
Ataxia with oculomotor apraxia
Ataxia with oculomotor apraxia and hypoalbuminemia
Ataxia with polyneuropathy
Ataxia with vitamin e deficiency
Ataxia, sensory, autosomal dominant
Ataxia, spastic, autosomal dominant
Ataxia, spastic, autosomal recessive
Ataxia, spastic, autosomal recessive with optic atrophy and impaired intellect
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-pancytopenia syndrome
Ateleiotic dwarfism
Atelis syndrome
Atelosteogenesis
Athabaskan brainstem dysgenesis
Atherosclerosis
Atopic dermatitis
Atr-x syndrome
Atrial and intestinal dysrhythmia
Atrial fibrillation
Atrial flutter
Atrial myxoma
Atrial septal defect
Atrial standstill
Atrial tachyarrhythmia, infra-hisian cardiac conduction disease
Atrichia with papular lesions
Atrioventricular block
Atrioventricular excitation abnormality
Atrioventricular septal defect
Atrophia bulborum heritaria
Atrophic gastritis
Atrophic macular degeneration
Atrophic retina
Atrophoderma vermiculata
Atrophy
Attention deficit hyperactivity disorder
Atypical absence epilepsy
Atypical absence seizure
Atypical fanconi syndrome
Atypical femoral fracture
Atypical hemolytic uremic syndrome
Atypical multiple mole melanoma syndrome
Atypical mycobacteriosis
Atypical teratoid rhabdoid tumor
Au-kline syndrome
Auditory neuropathy
Auditory neuropathy with optic atrophy
Auditory perceptual disorder
Auditory system disease
Auricle malformation
Auriculocondylar syndrome
Auroneurodental syndrome
Autism
Autism, x-linked
Autism-epilepsy syndrome
Autoimmune disease
Autoimmune enteropathy and endocrinopathy
Autoimmune gastritis
Autoimmune hemolytic anemia
Autoimmune hepatitis
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune lymphoproliferative disorder
Autoimmune musculoskeletal system disorder
Autoimmune nervous system disorder
Autoimmune neurological syndrome
Autoimmune pancreatitis
Autoimmune polyendocrine syndrome
Autoimmune pulmonary alveolar proteinosis
Autoimmune thrombocytopenic purpura
Autoimmune thyroid disease
Autoimmune uveitis
Autoimmunity-autoinflammation-immunodeficiency syndrome
Autoinflammation and autoimmunity, systemic, with immune dysregulation 1
Autoinflammation with arthritis and dyskeratosis
Autoinflammation with arthritis and vasculitis
Autoinflammation with episodic fever and immune dysregulation
Autoinflammation with infantile enterocolitis
Autoinflammation with pulmonary and cutaneous vasculitis
Autoinflammation, antibody deficiency, and immune dysregulation
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Autoinflammation, immune dysregulation, and eosinophilia
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome
Autoinflammation, panniculitis, and dermatosis syndrome
Autoinflammatory disease, familial, behcet-like 3
Autoinflammatory disease, multisystem, with immune dysregulation, x-linked
Autoinflammatory disease, systemic, with vasculitis
Autoinflammatory disease, systemic, x-linked
Autoinflammatory syndrome
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
Autoinflammatory syndrome with immunodeficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autoinflammatory syndrome, familial, behcet-like
Autoinflammatory syndrome, familial, with or without immunodeficiency
Autoinflammatory syndrome, familial, x-linked, behcet-like
Autoinflammatory-pancytopenia syndrome
Autonomic nervous system disease
Autosomal dominant sensorineural deafness
Autosomal recessive ataxia
Autosomal recessive hypomyelinating leukodystrophy
Avascular necrosis of bone
Avascular necrosis of femoral head
Avellino corneal dystrophy
Avoidant restrictive food intake disorder
Axenfeld anomaly
Axenfeld-rieger syndrome
Axial spondylometaphyseal dysplasia
Axonal hereditary motor and sensory neuropathy
Axonal neuropathy
Axonal neuropathy with neuromyotonia
Ayazi syndrome
Azoospermia
B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
B-lymphoblastic leukemia/lymphoma
Bafopathy
Baraitser-winter cerebrofrontofacial syndrome
Barakat syndrome
Baralle-macken syndrome
Barber-say syndrome
Bardet-biedl syndrome
Bare lymphocyte syndrome
Barrett esophagus
Bart-pumphrey syndrome
Barth syndrome
Bartholin gland disease
Bartsocas-papas syndrome
Bartter syndrome
Basal cell carcinoma
Basal cell nevus syndrome
Basal ganglia disease
Beare-stevenson cutis gyrata syndrome
Beck-fahrner syndrome
Becker generalized myotonia
Becker muscular dystrophy
Becker nevus syndrome
Beckwith-wiedemann syndrome
Beemer-langer syndrome
Behavior disorders
Behcet disease
Bell's palsy
Benign adult familial myoclonic epilepsy
Benign concentric annular macular dystrophy
Benign congenital myopathy
Benign epithelial tumor of salivary glands
Benign essential blepharospasm
Benign familial pemphigus
Benign fasciculation-cramp syndrome
Benign flecked retina
Benign hereditary chorea
Benign hypercalcemia
Benign infantile epilepsy
Benign mesial temporal lobe epilepsy
Benign mucous membrane pemphigoid
Benign mucous membrane pemphigoid with ocular involvement
Benign myoclonic epilepsy
Benign neonatal epilepsy
Benign neonatal-infantile seizures
Benign paroxysmal torticollis of infancy
Benign pemphigus
Benign prostatic hyperplasia
Benign recurrent intrahepatic cholestasis
Benign samaritan congenital myopathy
Bent bone dysplasia
Benta disease
Berardinelli-seip congenital lipodystrophy
Beriberi
Bernard-soulier syndrome
Berylliosis
Bestrophinopathy
Beta thalassemia
Beta-aminoisobutyric aciduria
Beta-glucopyranoside tasting
Beta-hexosaminidase a deficiency
Beta-hydroxyisobutyryl-coa deacylase deficiency
Beta-ketothiolase deficiency
Beta-mannosidosis
Beta-propeller protein-associated neurodegeneration
Beta-sarcoglycanopathy
Beta-ureidopropionase deficiency
Beta2-microglobulinic amyloidosis
Bethlem myopathy
Beukes hip dysplasia
Bicuspid aortic valve
Bietti crystalline corneoretinal dystrophy
Bifid nail
Bifid nose
Bifid uvula
Bifunctional enzyme deficiency
Bilateral cleft lip
Bilateral congenital mydriasis
Bilateral congenital vertical talus
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral microphthalmos
Bilateral microtia with deafness and cleft palate syndrome
Bilateral multicystic dysplastic kidney
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bilateral vestibulopathy
Bile acid conjugation defect
Bile acid malabsorption
Bile duct calculus
Bile duct cancer
Bile duct disease
Bile duct disorder
Bile duct neoplasms
Biliary atresia
Biliary cholangitis
Biliary cirrhosis
Biliary tract cancer
Biliary tract neoplasms
Biliary-renal-neuro-skeletal syndrome
Bilirubin metabolism disease
Binge drinking
Binge eating disorder
Binocular vision disease
Biotin-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease
Biotinidase deficiency
Bipolar depression
Bipolar disorder
Birbeck granule deficiency
Birdshot chorioretinopathy
Birk-aharoni syndrome
Birk-barel syndrome
Birk-landau-perez syndrome
Birt-hogg-dube syndrome
Bisphosphoglycerate mutase deficiency
Biventricular noncompaction cardiomyopathy
Bjornstad syndrome
Bk virus nephropathy
Bladder calculus
Bladder cancer
Bladder disease
Bladder dysfunction
Bladder exstrophy
Bladder exstrophy and epispadias complex
Bladder neck obstruction
Blast crisis
Blau syndrome
Bleeding esophageal varices
Blepharitis
Blepharocheilodontic syndrome
Blepharophimosis intellectual disability syndrome
Blepharophimosis ptosis epicanthus inversus syndrome
Blepharophimosis syndrome
Blepharophimosis-intellectual disability syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome
Blepharoptosis
Blepharospasm
Blindness
Blister
Bloch sulzberger syndrome
Blomstrand lethal chondrodysplasia
Blood coagulation disorder
Blood protein disorder
Bloom syndrome
Blue cone monochromatism
Blue rubber bleb nevus syndrome
Bmp4-related ocular growth disorder
Bmpr1a-related juvenile polyposis
Bnar syndrome
Bockenheimer syndrome
Body mass index
Body skin hyperlaxity
Body weight
Bohring syndrome
Bohring-opitz syndrome
Bohring-opitz-like syndrome
Boichis syndrome
Bombay phenotype
Bone disease
Bone dysplasia with increased bone density
Bone fracture
Bone fragility with contractures, arterial rupture, and deafness
Bone marrow diseases
Bone marrow failure syndromes
Bone marrow neoplasms
Bone mineral density quantitative trait locus
Bone neoplasm
Bone neoplasms
Bone osteosarcoma
Bone remodeling disease
Bone resorption
Bonnevie-ullrich syndrome
Boomerang dysplasia
Bor syndrome
Borderline personality disorder
Borjeson-forssman-lehmann syndrome
Bosch-boonstra-schaaf optic atrophy syndrome
Bosley-salih-alorainy syndrome
Bosma arhinia microphthalmia syndrome
Bothnia retinal dystrophy
Boucher-neuhauser syndrome
Boudin-mortier syndrome
Bowed long bones
Bowen-conradi syndrome
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome
Brachial plexus neuritis
Brachycephaly
Brachydactyly
Brachydactyly with hypertension
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-short stature-retinits pigmentosa syndrome
Brachydactyly-syndactyly syndrome
Brachymesophalangy
Brachymorphism onychodysplasia dysphalangism syndrome
Brachyolmia
Brachyphalangy polydactyly tibial aplasia hypoplasia syndrome
Brachyrachia
Brachytelephalangic chondrodysplasia punctata
Braddock-carey syndrome
Bradycardia
Bradyopsia
Brain abnormalities developmental delay facial dysmorphism intellectual disability syndrome
Brain abnormalities neurodegeneration dysosteosclerosis
Brain aneurysm
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome
Brain atrophy
Brain calcification
Brain cancer
Brain compression
Brain disease
Brain edema
Brain infarction
Brain injuries
Brain ischemia
Brain malformations
Brain neoplasms
Brain small vessel disease
Brain stem neoplasms
Brain tumor-polyposis syndrome
Brain-lung-thyroid syndrome
Brainstem atrophy
Brainstem dysplasia
Branched-chain keto acid dehydrogenase kinase deficiency
Branchial arch abnormalities syndrome
Branchial cleft anomalies
Branchiooculofacial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Branchioskeletogenital syndrome
Breast cancer
Breast cyst
Breast disease
Breast fibrocystic disease
Breast implant-associated anaplastic large cell lymphoma
Breast neoplasms
Breast/nipple aplasia or hypoplasia
Bresek syndrome
Brittle cornea syndrome
Brody myopathy
Bronchial disease
Bronchial hyperreactivity
Bronchiectasis
Bronchiolitis
Bronchiolitis obliterans
Bronchitis
Bronchopneumonia
Bronchopulmonary dysplasia
Bronchus cancer
Brooke-spiegler syndrome
Brown oculocutaneous albinism
Brown tendon sheath syndrome
Brown-vialetto-van laere syndrome
Brucellosis
Bruck syndrome
Brugada syndrome
Brunet-wagner neurodevelopmental syndrome
Brunner syndrome
Bruton type agammaglobulinemia
Bruxism
Bryant-li-bhoj neurodevelopmental syndrome
Budd-chiari syndrome
Bulbar palsy
Bulbo-spinal atrophy, x-linked
Bulimia
Bullous diffuse cutaneous mastocytosis
Bullous pemphigoid
Bullous pyoderma gangrenosum
Bundle branch block
Buratti-harel syndrome
Burkitt lymphoma
Burn-mckeown syndrome
Burnett schwartz berberian syndrome
Buruli ulcer
Buschke-ollendorff syndrome
Butterfly-shaped pigmentary macular dystrophy
Butyryl-coa dehydrogenase deficiency
Butyrylcholinesterase deficiency
Byzanthine arch palate
C syndrome
C1 esterase inhibitor deficiency
C1q deficiency
C3 glomerulonephritis
C3hex olfactory ability
C9 deficiency
Cachexia
Cadasil
Cafe-au-lait spots
Caffey disease
Calcinosis
Calcium metabolism disorders
Calcium pyrophosphate deposition
Calvarial doughnut lesions with bone fragility
Camos syndrome
Campomelic dysplasia
Camptocormia
Camptodactyly
Camptodactyly, tall stature, and hearing loss syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptomelic dysplasia
Camptosynpolydactyly
Camurati-engelmann syndrome
Canavan disease
Cancer
Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
Candidemia
Candle syndrome
Cannabis abuse
Cantu syndrome
Cap myopathy
Capillary infantile hemangioma
Capillary leak syndrome
Capillary malformation
Capillary malformation-arteriovenous malformation
Capillary-lymphatic-venous malformation
Capos syndrome
Carasil syndrome
Carbamazepine hypersensitivity
Carbamoyl phosphate synthetase deficiency
Carbohydrate deficient glycoprotein syndrome
Carbohydrate metabolism disease
Carbonic anhydrase deficiency
Carboxypeptidase n deficiency
Carcinogenesis
Carcinoid syndrome
Carcinoid tumor
Carcinoma
Carcinoma in situ
Carcinoma of gallbladder and extrahepatic biliary tract
Cardiac and skeletal myopathy
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation
Cardiac arrest
Cardiac arrhythmia
Cardiac arrhythmias
Cardiac conduction disease
Cardiac embolism
Cardiac injury
Cardiac rhythm disease
Cardiac tamponade
Cardiac valvular dysplasia
Cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
Cardioembolic stroke
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency
Cardiofacial dysplasia
Cardiofacio-neurodevelopmental syndrome
Cardiofaciocutaneous syndrome
Cardiogenetic disease
Cardiomegaly
Cardiomyopathy
Cardiovascular abnormalities
Cardiovascular disease
Carey-fineman-ziter syndrome
Carnevale syndrome
Carney complex
Carney-stratakis syndrome
Carnitine acetyltransferase deficiency
Carnitine deficiency
Carnitine palmitoyltransferase deficiency
Carnosinase deficiency
Carnosinemia
Caroli disease
Carotid artery disease
Carotid artery stenosis
Carotid artery thrombosis
Carotid atherosclerosis
Carotid intima-media thickness
Carpal tunnel syndrome
Carpenter syndrome
Cartilage disease
Cartilage-hair hypoplasia
Carvajal syndrome
Casgid syndrome
Caspase 8 deficiency
Castleman disease
Catalepsy
Cataplexy
Cataplexy and narcolepsy
Cataract
Cataract-alopecia-sclerodactyly syndrome
Cataract-corneal dystrophy syndrome
Cataract-glaucoma syndrome
Cataract-growth hormone deficiency-skeletal dysplasia syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Cataract-microcornea-metabolic syndrome
Cataract-multisystem syndrome
Cataract-neurodevelopmental syndrome
Catatonia
Catecholaminergic polymorphic ventricular tachycardia
Catel-manzke syndrome
Cathepsin a-related arteriopathy, strokes, and leukoencephalopathy
Catifa syndrome
Catshl syndrome
Caudal duplication anomaly
Caudal regression syndrome
Caudate atrophy
Caveolinopathy
Cavernous malformations of cns
Cavitary optic disc anomalies
Cavitary optic disk anomaly
Cayler cardiofacial syndrome
Cayman type cerebellar ataxia
Cebalid syndrome
Cecal neoplasms
Cednik syndrome
Celiac disease
Cenani-lenz syndrome
Central apnea
Central areolar choroidal dystrophy
Central centrifugal cicatricial alopecia
Central core disease
Central core myopathy
Central diabetes insipidus
Central hypothyroidism
Central hypoventilation syndrome
Central nervous system cancer
Central nervous system demyelinating disease
Central nervous system disease
Central nervous system infection
Central nervous system malformation
Central nervous system neoplasms
Central nervous system non-hodgkin lymphoma
Central precocious puberty
Central retinal vein occlusion
Central serous retinopathy
Central vertigo
Centronuclear myopathy
Cerebellar ataxia
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia with deafness and narcolepsy
Cerebellar ataxia with hearing loss
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
Cerebellar ataxia, deafness, and narcolepsy
Cerebellar ataxia, impaired intellectual development, and dysequilibrium
Cerebellar ataxia, intellectual disability, and dysequilibrium
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
Cerebellar ataxia, mental retardation, and dysequilibrium
Cerebellar ataxia, neuropathy, and vestibular areflexia
Cerebellar ataxia-hypogonadism
Cerebellar atrophy
Cerebellar atrophy with seizures and variable developmental delay
Cerebellar cortical atrophy
Cerebellar diseases
Cerebellar dysfunction with variable cognitive and behavioral abnormalities
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Cerebellar hypoplasia
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
Cerebellar malformation
Cerebellar vermis atrophy
Cerebellar, ocular, craniofacial, and genital syndrome
Cerebellar-facial-dental syndrome
Cerebelloparenchymal disorder
Cerebral amyloid angiopathy
Cerebral arterial disease
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral arteriovenous malformation
Cerebral arteriovenous malformations
Cerebral artery occlusion
Cerebral atherosclerosis
Cerebral atrophy
Cerebral cavernous malformation
Cerebral cavernous malformations
Cerebral cortical atrophy
Cerebral creatine deficiency syndrome
Cerebral cryptococcosis
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Cerebral embolism
Cerebral folate deficiency
Cerebral hemorrhage
Cerebral microangiopathy
Cerebral palsy
Cerebral saccular aneurysm
Cerebral sinovenous thrombosis
Cerebral small vessel disease
Cerebral thrombosis
Cerebral venous sinus thrombosis
Cerebro-oculo-facio-skeletal syndrome
Cerebrocostomandibular syndrome
Cerebrofacial arteriovenous metameric syndrome
Cerebrofacioarticular syndrome
Cerebrofaciothoracic dysplasia
Cerebrooculofacioskeletal syndrome
Cerebroretinal microangiopathy with calcifications and cysts
Cerebrotendinous xanthomatosis
Cerebrovascular disorder
Cerebrovascular trauma
Cervical cancer
Cervical disc degenerative disorder
Cervical dysplasia
Cervical dystonia
Cervical intraepithelial neoplasia
Cervical lymphadenopathy
Cervical polyp
Cervicitis
Chagas cardiomyopathy
Chagas disease
Charcot-marie-tooth disease
Charcot-marie-tooth disease, x-linked
Charge syndrome
Chediak-higashi syndrome
Chiari-frommel syndrome
Chilblain lupus
Chilblain lupus erythematosus
Childhood absence epilepsy
Childhood apraxia of speech
Childhood ataxia with cns hypomyelination
Childhood hypophosphatasia
Childhood kidney wilms tumor
Childhood myocerebrohepatopathy spectrum
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset benign chorea with striatal involvement
Childhood-onset common variable immunodeficiency due to arhgef1 deficiency
Childhood-onset dystonia
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
Childhood-onset epilepsy syndrome
Childhood-onset glut1 deficiency syndrome 2
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Childhood-onset sensorineural hearing impairment
Childhood-onset spinal muscular atrophy
Chloracne
Choanal atresia syndrome
Cholangiocarcinoma
Cholangitis
Cholecystitis
Cholecystolithiasis
Cholelithiasis
Cholestanol storage disease
Cholestasis
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Cholesteatoma
Cholesterol embolism
Cholesterol ester storage disease
Cholesterol ester transfer protein deficiency
Chondroblastoma
Chondrocalcinosis
Chondrodysplasia
Chondrodysplasia-difference of sex development syndrome
Chondrodysplasia-pseudohypohermaphroditism syndrome
Chondromalacia
Chondromyxoid fibroma
Chondrosarcoma
Chopra-amiel-gordon syndrome
Chops syndrome
Chordoma
Chorea
Choreatic disease
Choreoacanthocytosis
Choreoathetosis
Chorioretinal atrophy
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
Chorioretinopathy with microcephaly
Choroid diseases
Choroid plexus carcinoma
Choroid plexus papilloma
Choroidal dystrophy
Choroidal melanoma
Choroidal neovascularization
Choroidal sclerosis
Choroideremia
Choroideremia-deafness-obesity syndrome
Christ-siemens-touraine syndrome
Christianon syndrome
Chromodomain helicase dna binding protein 8 overgrowth syndrome
Chromophobe renal cell carcinoma
Chromosomal disorder
Chromosomal instability
Chromosome 10q deletion syndrome
Chromosome 12p deletion syndrome
Chromosome 15q deletion syndrome
Chromosome 15q24 deletion syndrome
Chromosome 16p11.2 deletion syndrome
Chromosome 16p11.2 microdeletion syndrome
Chromosome 16p13.3 deletion syndrome
Chromosome 17 deletion
Chromosome 17p13.3 microdeletion syndrome
Chromosome 17q21.31 deletion syndrome
Chromosome 17q23.1-q23.2 deletion syndrome
Chromosome 17q23.1-q23.2 duplication syndrome
Chromosome 19q13.11 deletion syndrome
Chromosome 1p32-p31 deletion syndrome
Chromosome 1p36 deletion syndrome
Chromosome 1q deletion syndrome
Chromosome 1q21.1 deletion syndrome
Chromosome 1q43-q44 deletion syndrome
Chromosome 20q11-q12 deletion syndrome
Chromosome 22q11.2 deletion syndrome
Chromosome 22q11.2 microdeletion syndrome
Chromosome 22q11.2 microduplication syndrome
Chromosome 2p16.1-p15 deletion syndrome
Chromosome 2p16.3 deletion syndrome
Chromosome 2q32-q33 deletion syndrome
Chromosome 2q37 deletion syndrome
Chromosome 3p25 monosomy
Chromosome 5q deletion syndrome
Chromosome 5q12 deletion syndrome
Chromosome 6q24-q25 deletion syndrome
Chromosome 8p23.1 monosomy
Chromosome xq21 deletion syndrome
Chromosome xq25 duplication syndrome
Chromosome xq26.3 duplication syndrome
Chromosome xq27.3-q28 duplication syndrome
Chromosome xq28 duplication syndrome
Chromosome y microdeletion syndrome
Chronic diarrhea
Chronic disease
Chronic infantile diarrhea due to guanylate cyclase 2c overactivity
Chronic obstructive pulmonary disease
Chronic pain
Chronic progressive external ophthalmoplegia
Chronobiology disorder
Chudley-mccullough syndrome
Chung-jansen syndrome
Churg-strauss syndrome
Chuvash erythrocytosis
Chylomicron retention disease
Chylothorax
Ciliary dyskinesia
Ciliary dyskinesia with retinitis pigmentosa
Ciliary dyskinesia, with or without situs inversus
Ciliopathy
Cimdag syndrome
Cinca syndrome
Circadian rhythm sleep disorder
Cirrhosis
Cirrhosis dystonia polycythemia hypermanganesemia syndrome
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Citrin deficiency
Citrullinemia
Ck syndrome
Clapo syndrome
Clark-baraitser syndrome
Claudication
Clear cell papillary renal cell carcinoma
Clear cell renal cell carcinoma
Clear cell sarcoma of kidney
Cleft eyelid
Cleft face
Cleft lip
Cleft lip and cleft of alveolar process of maxilla
Cleft lip and palate
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
Cleft lip with or without cleft palate
Cleft lip/palate with abnormal thumbs and microcephaly
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft palate
Cleft palate and bilateral cleft lip
Cleft palate cardiac defects impaired intellectual development
Cleft palate congenital heart defect intellectual disability syndrome due to 15q14 microdeletion
Cleft palate proliferative retinopathy developmental delay
Cleft palate psychomotor retardation distinctive facial features
Cleft palate with ankyloglossia
Cleft palate x-linked
Cleidocranial dysplasia
Clinodactyly
Clonal cytopenia of undetermined significance
Clonal hematopoiesis
Clouston syndrome
Cloves syndrome
Clubfoot
Coach syndrome
Coagulation factor deficiency syndrome
Coasy protein-associated neurodegeneration
Coats disease
Coats plus syndrome
Cobalamin c disease
Cobblestone lissencephaly
Cochlear diseases
Cockayne syndrome
Cocoon syndrome
Codas syndrome
Coenzyme a synthase protein associated neurodegeneration
Coenzyme q10 deficiency
Coffin-siris syndrome
Cognition disorder
Cognitive impairment with or without cerebellar ataxia
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Cohen syndrome
Cohen-gibson syndrome
Colchicine resistance
Cold autoinflammatory syndrome
Cold paroxysmal hemoglobinuria
Cold-induced sweating syndrome
Cole disease
Cole-carpenter syndrome
Colitis
Collagen vi muscular dystrophy
Collagen vi-related myopathy
Collagenopathy
Collagenous colitis
Coloboma
Coloboma, cleft lip-palate and mental retardation syndrome
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
Colobomatous macrophthalmia microcornea syndrome
Colobomatous microphthalmia
Colobomatous microphthalmia syndrome
Colobomatous optic disc macular atrophy chorioretinopathy syndrome
Colonic disease
Colonic neoplasm
Colonic neoplasms
Colonic polyps
Color vision deficiency
Colorectal adenoma
Colorectal adenomatous polyposis
Colorectal cancer
Colorectal cancer susceptibility
Colorectal neoplasms
Colpocephaly
Combined cellular and humoral immune defects with granulomas
Combined d-2- and l-2-hydroxyglutaric aciduria
Combined deficiency of factor v and factor viii
Combined deficiency of sialidase and beta galactosidase
Combined factor v and factor viii deficiency
Combined immunodeficiency
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined immunodeficiency disease
Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
Combined immunodeficiency with facio-oculo-skeletal anomalies
Combined immunodeficiency with faciooculoskeletal anomalies
Combined immunodeficiency with granulomatosis
Combined immunodeficiency with skin granulomas
Combined immunodeficiency, enteropathy spectrum
Combined immunodeficiency, x-linked
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
Combined immunodeficiency-multiple intestinal atresia
Combined low ldl and fibrinogen
Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria
Combined molybdoflavoprotein enzyme deficiency
Combined osteogenesis imperfecta and ehlers-danlos syndrome
Combined oxidative phosphorylation defect
Combined oxidative phosphorylation deficiency
Combined pituitary hormone deficiency
Combined psap deficiency
Combined saposin deficiency
Combined vitamin k-dependent clotting factor deficiency
Commissural facial cleft
Commisural aphasia
Common arterial trunk with aortic dominance
Common arterial trunk with pulmonary dominance and interrupted aortic arch
Common atrium
Common cold
Common migraine
Common variable immunodeficiency
Comp-related skeletal dysplasia
Complement component deficiency
Complement pathway abnormality
Complete unilateral cleft lip
Complex cortical dysplasia with other brain malformations
Complex partial epilepsy
Complex regional pain syndrome
Complex spastic paraplegia
Complications of diabetes mellitus
Compton-north congenital myopathy
Concentric hypertrophic cardiomyopathy
Concussion
Conduct disorder
Conduction disorder of the heart
Conductive hearing loss
Cone dystrophy
Cone dystrophy, x-linked
Cone monochromatism
Cone rod dystrophy and hearing loss
Cone-rod dystrophy
Cone-rod dystrophy, x-linked
Cone-rod synaptic disorder
Confusion
Congenital abnormalities
Congenital absence of breast with absent nipple
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal insufficiency with 46,xy sex reversal due to cyp11a1 deficiency
Congenital afibrinogenemia
Congenital alpha-2-antiplasmin deficiency
Congenital alpha-fetoprotein deficiency
Congenital alveolar capillary dysplasia
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital aneurysm of ascending aorta
Congenital aniridia
Congenital anomalies of kidney and urinary tract
Congenital anomalies of the kidney and urinary tract
Congenital anomaly of limb
Congenital anosmia
Congenital aortic valve atresia
Congenital aphakia
Congenital arteriovenous malformation
Congenital arthrogryposis with anterior horn cell disease
Congenital asplenia
Congenital atransferrinemia
Congenital aural atresia
Congenital benign spinal muscular atrophy
Congenital bilateral absence of vas deferens
Congenital bile acid synthesis defect
Congenital blindness
Congenital bone marrow failure syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital brain malformation
Congenital camptodactyly
Congenital cardiomyopathy
Congenital cardiovascular anomaly
Congenital cartilage disorder
Congenital cataract
Congenital cataract anterior segment dysgenesis syndrome
Congenital cataract facial dysmorphism neuropathy syndrome
Congenital cataract hearing loss developmental delay syndrome
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome
Congenital cataract microcephaly intellectual disability syndrome
Congenital cataract microcornea with corneal opacity
Congenital cataract severe neonatal hepatopathy developmental delay syndrome
Congenital central hypothyroidism
Congenital central hypoventilation syndrome
Congenital cerebellar ataxia
Congenital cerebellar hypoplasia
Congenital cerebral aneurysm
Congenital cerebral hernia
Congenital chloride diarrhea
Congenital chromosomal disease
Congenital chronic diarrhea with protein-losing enteropathy
Congenital cleft hand
Congenital clubfoot
Congenital communicating hydrocephalus
Congenital contractural arachnodactyly
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome
Congenital cornea plana
Congenital corneal opacity
Congenital cranial dysinnervation disorder
Congenital cystic eyeball
Congenital cystic kidney disease
Congenital deformity of clavicle
Congenital deformity of elbow
Congenital deformity of forearm
Congenital deformity of scapula
Congenital deformity of wrist
Congenital diaphragmatic hernia
Congenital diarrhea
Congenital digestive system anomaly
Congenital dislocation of elbow
Congenital disorder of deglycosylation
Congenital disorder of glycosylation
Congenital dyserythropoietic anemia
Congenital ear anomaly
Congenital ectodermal dysplasia of face
Congenital enteropeptidase deficiency enteropathy
Congenital epicanthus
Congenital epithelial dysplasia of intestine
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-ige
Congenital erythropoietic porphyria
Congenital esophageal anomaly
Congenital exomphalos
Congenital external auditory canal atresia
Congenital facial anomaly
Congenital factor ii deficiency
Congenital factor v deficiency
Congenital factor vii deficiency
Congenital factor x deficiency
Congenital factor xi deficiency
Congenital factor xii deficiency
Congenital factor xiii deficiency
Congenital fiber type disproportion myopathy
Congenital fibrinogen deficiency
Congenital fibrosis of extraocular muscles
Congenital finger flexion contractures
Congenital folate absorption defect
Congenital foot deformity
Congenital fusion of ribs
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital generalized lipodystrophy
Congenital glaucoma
Congenital glenohumeral joint dislocation
Congenital glucokinase-related hyperinsulinism
Congenital glucose-galactose malabsorption
Congenital hand deformities
Congenital hearing disorder
Congenital heart defect
Congenital heart defect, intellectual disability, facial dysmorphism syndrome
Congenital heart defects
Congenital heart disease
Congenital heart malformation
Congenital heart septal defect
Congenital hemangioma
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Congenital hemihypertrophy
Congenital hemivertebra
Congenital hereditary endothelial dystrophy
Congenital hereditary facial paralysis with variable hearing loss syndrome
Congenital hernia of foramen of bochdalek
Congenital high-molecular-weight kininogen deficiency
Congenital hip dysplasia
Congenital hydrocephalus
Congenital hyperammonemia
Congenital hyperinsulinism
Congenital hypofibrinogenemia
Congenital hypogonadotropic hypogonadism
Congenital hypopituitarism
Congenital hypoplasia of aortic arch
Congenital hypoplasia of clavicle
Congenital hypoplasia of femur
Congenital hypoplasia of kidney
Congenital hypoplasia of lung
Congenital hypoplasia of pancreas
Congenital hypoplasia of part of brain
Congenital hypoplasia of penis
Congenital hypoplastic anemia
Congenital hypothalamic hamartoma syndrome
Congenital hypothyroidism
Congenital hypothyroidism due to absence of thyroid gland
Congenital hypothyroidism without goiter
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Congenital hypotrichosis with juvenile macular dystrophy
Congenital ichthyosiform erythroderma
Congenital ichthyosis
Congenital ichthyosis with hypotrichosis syndrome
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Congenital idiopathic intestinal pseudoobstruction
Congenital impairment of spermatozoa motility
Congenital insensitivity to pain
Congenital insufficiency of mitral valve
Congenital intestinal duplication
Congenital intrinsic factor deficiency
Congenital iris coloboma
Congenital isolated acth deficiency
Congenital isolated growth hormone deficiency
Congenital joint contractures
Congenital keratoglobus
Congenital kidney anomaly
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital lactase deficiency
Congenital lactic acidosis
Congenital lamellar cataract
Congenital left-sided heart lesions
Congenital lethal myopathy
Congenital leukocyte adherence deficiency
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital lipoid adrenal hyperplasia
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Congenital macrodactylia
Congenital malabsorptive diarrhea
Congenital malformation of cerebral vessels
Congenital malformation of cornea
Congenital malformation syndromes associated with short stature
Congenital malformation syndromes involving early overgrowth
Congenital malformation syndromes predominantly affecting facial appearance
Congenital malformation syndromes predominantly involving limbs
Congenital malrotation of intestine
Congenital membranous nephropathy
Congenital merosin-deficient muscular dystrophy
Congenital mesoblastic nephroma
Congenital methemoglobinemia
Congenital microcephaly
Congenital microtia
Congenital microvillous atrophy
Congenital mirror movements
Congenital mitral valve atresia
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy
Congenital muscular dystrophy due to dystroglycanopathy
Congenital muscular hypertrophy-cerebral syndrome
Congenital musculoskeletal anomalies
Congenital myasthenic syndrome
Congenital myelofibrosis with anemia
Congenital myopathy
Congenital myotonia
Congenital nasopharyngeal atresia
Congenital neck anomaly
Congenital nemaline myopathy
Congenital nephrotic syndrome
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
Congenital nervous system disorder
Congenital neurologic anomalies
Congenital neutropenia
Congenital nonbullous ichthyosiform erythroderma
Congenital nonspherocytic hemolytic anemia
Congenital nystagmus
Congenital ocular coloboma
Congenital omphalocele
Congenital or early infantile cach syndrome
Congenital pain insensitivity
Congenital palmoplantar and perioral keratoderma of olmsted
Congenital pectus carinatum
Congenital pes cavus
Congenital phimosis
Congenital plasmin inhibitor deficiency
Congenital plasminogen activator inhibitor deficiency type 1
Congenital pontocerebellar hypoplasia
Congenital porencephaly
Congenital posterior urethral valves
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital primary lymphedema of gordon
Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome
Congenital prothrombin deficiency
Congenital ptosis
Congenital pulmonary artery atresia
Congenital pulmonary valve atresia
Congenital radioulnar synostosis
Congenital respiratory system anomaly
Congenital reticular ichthyosiform erythroderma
Congenital retinal aneurysm
Congenital retinal anomaly
Congenital retrognathism
Congenital right-sided heart lesions
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Congenital sclerocornea
Congenital scoliosis
Congenital secretory diarrhea
Congenital sensorineural hearing loss
Congenital sensory neuropathy
Congenital septal defect of heart
Congenital short bowel syndrome
Congenital short qt syndrome
Congenital sialidosis
Congenital skin anomaly
Congenital small ears
Congenital small-platelet thrombocytopenia
Congenital smooth muscle hamartoma
Congenital sodium diarrhea
Congenital stationary night blindness
Congenital stenosis of aortic valve
Congenital stromal corneal dystrophy
Congenital structural myopathy
Congenital thrombotic disease
Congenital thrombotic thrombocytopenic purpura
Congenital thyroid atrophy
Congenital total cataract
Congenital tufting enteropathy
Congenital venous anomaly
Congenital vertebral-cardiac-renal anomalies syndrome
Congenital vertical talus
Congenital-onset steinert myotonic dystrophy
Congenitally uncorrected transposition of the great arteries
Congestive heart failure
Congestive ophthalmopathy
Conjunctival disease
Conjunctival telangiectasis
Conjunctivitis
Conn syndrome
Connective and soft tissue disorder
Connective tissue disease
Connective tissue neoplasm
Conotruncal anomaly face syndrome
Conotruncal cardiac defect
Constipation
Constitutional mismatch repair deficiency
Constitutional mismatch repair deficiency syndrome
Contact dermatitis
Contiguous abcd1-dxs1375e deletion syndrome
Continuous spike and wave during sleep syndrome
Continuous spike and wave during slow wave sleep syndrome
Contracture
Contracture of multiple joints
Contractures, pterygia, and spondylocarpotarsal fusion syndrome
Contractures, pterygia, and variable skeletal fusions syndrome
Cooks syndrome
Cooleys anemia
Copper overload cirrhosis
Coproporphyria
Coq7-related distal hereditary motor neuropathy
Cor pulmonale
Coralliform cataract
Cornea plana
Corneal astigmatism
Corneal degeneration
Corneal disease
Corneal dystrophy
Corneal edema
Corneal endothelial dystrophy
Corneal injury
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Corneal neovascularization
Corneal opacity
Corneal ulcer
Cornelia de lange syndrome
Coronal craniosynostosis
Coronary aneurysm
Coronary artery disease
Coronary artery vasospasm
Coronary medial sclerosis of infancy
Coronary restenosis
Coronary stenosis
Coronary syndrome
Coronary thrombosis
Coronary vasospasm
Coronary vessel anomalies
Corpus callosum agenesis
Corpus callosum agenesis neuronopathy syndrome
Corpus callosum agenesis with abnormal genitalia
Corpus callosum agenesis with facial anomalies and cerebellar ataxia
Corpus callosum agenesis with facial anomalies and robin sequence
Corpus callosum agenesis with intellectual disability, coloboma, micrognathia
Corpus callosum agenesis with intellectual disability, ocular coloboma, micrognathia
Cortical congenital hyperostosis
Cortical development malformation
Cortical dysgenesis with pontocerebellar hypoplasia
Cortical dysplasia
Cortical dysplasia with other brain malformations
Cortical dysplasia-focal epilepsy syndrome
Cortical occipital malformations
Corticobasal degeneration
Corticobasal syndrome
Corticosteroid-binding globulin deficiency
Corticosterone methyl oxidase type i
Corticosterone methyloxidase deficiency
Corticosterone monooxygenase deficiency
Cortisone reductase deficiency
Costeff optic atrophy syndrome
Costello syndrome
Cough
Coumarin resistance
Cousin syndrome
Cowchock syndrome
Cowden disease
Coxa plana
Coxopodopatellar syndrome
Cramp-fasciculation syndrome
Cranio-cervical dystonia
Craniocerebral trauma
Craniodiaphyseal dysplasia
Craniofacial abnormalities
Craniofacial anomalies with anterior segment dysgenesis
Craniofacial deafness hand syndrome
Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome
Craniofacial dysostosis
Craniofacial dysplasia osteopenia syndrome
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome
Craniofacial microsomia
Craniofacial ulnar renal syndrome
Craniofaciocardiohepatic syndrome
Craniofaciosynostosis
Craniofrontonasal dysplasia
Craniolenticulosutural dysplasia
Craniometadiaphyseal dysplasia
Craniometadiaphyseal osteosclerosis with hip dysplasia
Craniometaphyseal dysplasia
Cranioosteoarthropathy
Craniopharyngioma
Craniosynostosis
Craniotubular dysplasia
Creatine deficiency
Creatine deficiency syndrome
Creatine phosphokinase elevation
Creatine transporter deficiency
Cree leukoencephalopathy
Crest syndrome
Creutzfeldt-jakob disease
Cri-du-chat syndrome
Cria syndrome
Crigler-najjar syndrome
Crisponi syndrome
Critical illness
Crohn disease
Cronkhite-canada syndrome
Crouzon syndrome
Crouzon syndrome with acanthosis nigricans
Crst syndrome
Cryoglobulinemia
Cryohydrocytosis
Cryopyrin-associated periodic syndrome
Cryptogenic multifocal ulcerous stenosing enteritis
Cryptogenic west syndrome
Cryptophthalmia
Cryptophthalmos syndrome
Cryptorchidism
Cryptospermia
Cryptosporidiosis
Cryptotria
Crystal arthropathy
Culler-jones syndrome
Curling ulcer
Curly hair ankyloblepharon nail dysplasia syndrome
Currarino syndrome
Curry-hall syndrome
Curry-jones syndrome
Cushing syndrome
Cushing's disease
Cutaneous leishmaniasis
Cutaneous lupus erythematosus
Cutaneous mastocytosis
Cutaneous polyarteritis nodosa
Cutaneous porphyria
Cutaneous squamous cell carcinoma
Cutis gyrata syndrome
Cutis laxa
Cutis marmorata
Cutis marmorata telangiectatica congenita
Cyanosis
Cyclic hematopoiesis
Cyclic neutropenia
Cyclin-dependent kinase-like 5 deficiency
Cyclocephaly
Cystathionine beta-synthase deficiency
Cystathioninuria
Cystic fibrosis
Cystic kidney disease
Cystic kidney disease with ventriculomegaly
Cystic leukoencephalopathy
Cystic lung disease
Cystine urolithiasis
Cystinosis
Cystinuria
Cystitis
Cytochrome c oxidase deficiency
Cytochrome-b5 reductase deficiency
Cytosolic acetoacetyl-coa thiolase deficiency
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder
Czech dysplasia
D-2-hydroxyglutaric aciduria
D-bifunctional protein deficiency
D-lactic aciduria
D-lactic aciduria with gout
Dacryocystitis
Dalmatian hypouricemia
Dandy-walker syndrome
Danon disease
Darier disease
De barsy syndrome
De la chapelle dysplasia
De lange syndrome
De sanctis-cacchione syndrome
De toni-debre-fanconi syndrome
Deaf blind hypopigmentation syndrome
Deafness
Deafness and myopia
Deafness dystonia syndrome
Deafness enamel hypoplasia nail defects
Deafness with cataract, intellectual disability, and polyneuropathy
Deafness with congenital and adult-onset progressive leukodystrophy
Deafness with congenital heart defects and posterior embryotoxon
Deafness with congenital inner ear agenesis, microtia, and microdontia
Deafness with congenital onychodystrophy
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness, aminoglycoside-induced
Deafness, digenic
Deafness, dystonia, and cerebral hypomyelination
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome
Deafness, nonsyndromic sensorineural, mitochondrial
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Deafness, sensorineural, and male infertility
Deafness, sensorineural, autosomal-mitochondrial type
Deafness, x-linked
Deafness, y-linked
Deafness-enamel hypoplasia-nail defects syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Deafness-onychodystrophy syndrome
Deeah syndrome
Deep vein thrombosis
Deficiency anemia
Degcags syndrome
Degenerative disorder
Degenerative polyarthritis
Deglutition disorder
Dejerine-lichtheim phenomenon
Dejerine-sottas disease
Delayed sleep phase syndrome
Deletion 5q35 syndrome
Delirium
Delirium, dementia, and cognitive disorders
Delpire-mcneill syndrome
Delta zero thalassemia
Delta-beta thalassemia
Delta-sarcoglycan-related limb-girdle muscular dystrophy r6
Delta-thalassemia
Dementia
Demyelinating diseases
Demyelinating hereditary motor and sensory neuropathy
Demyelinating leukodystrophy
Den hoed-de boer-voisin syndrome
Dend syndrome
Dent disease
Dental caries
Dental enamel hypoplasia
Dentatorubral pallidoluysian atrophy
Dentici novelli neurodevelopmental syndrome
Dentin dysplasia
Dentinogenesis imperfecta
Denys drash syndrome
Deoxyguanosine kinase deficiency
Depression
Dermatitis
Dermatitis herpetiformis
Dermatofibrosarcoma protuberans
Dermatofibrosis lenticularis disseminata
Dermatologic disorder
Dermatomycosis
Dermatomyositis
Dermatopathia pigmentosa reticularis
Dermatophytosis
Dermatosparaxis ehlers-danlos syndrome
Desanto-shinawi syndrome
Desbuquois dysplasia
Desbuquois syndrome
Desmoid tumor
Desmoplastic small round cell tumor
Desmosterolosis
Deuteranomaly
Developmental and epileptic encephalopathy
Developmental coordination disorder
Developmental delay
Developmental delay and seizures
Developmental delay due to metabolic enzyme deficiency
Developmental delay with ataxia, hypotonia, and facial dysmorphism
Developmental delay with autism spectrum disorder
Developmental delay with behavioral abnormalities
Developmental delay with dysmorphic facies and brain anomalies
Developmental delay with dysmorphic facies and dental anomalies
Developmental delay with facial dysmorphism syndrome
Developmental delay with hypotonia and behavioral abnormalities
Developmental delay with hypotonia and impaired language
Developmental delay with hypotonia, myopathy, and brain abnormalities
Developmental delay with immunodeficiency syndrome
Developmental delay with impaired growth and dysmorphic facies
Developmental delay with intellectual disability and obesity
Developmental delay with language and ocular abnormalities
Developmental delay with language impairment and movement disorder
Developmental delay with or without epilepsy
Developmental delay with or without intellectual or behavioral abnormalities
Developmental delay with overweight and facial dysmorphism
Developmental delay with short stature and dysmorphic facial features
Developmental delay with variable intellectual disability
Developmental delay with variable neurological abnormalities
Developmental disability
Developmental dysplasia of the hip
Developmental malformations-deafness-dystonia syndrome
Developmental regression
Developmental venous anomaly
Dextrocardia
Diabetes complications
Diabetes deafness developmental delay and short stature syndrome
Diabetes due to autoimmune process
Diabetes insipidus
Diabetes mellitus
Diabetes mellitus insulin resistant
Diabetes mellitus ketosis prone
Diabetes mellitus neonatal with congenital hypothyroidism
Diabetes mellitus permanent neonatal
Diabetes mellitus transient neonatal
Diabetes mellitus type 1
Diabetes mellitus type 2
Diabetes mellitus-central and peripheral neurodegeneration syndrome
Diabetic angiopathies
Diabetic cardiomyopathy
Diabetic eye disease
Diabetic foot
Diabetic ketoacidosis
Diabetic macular edema
Diabetic maculopathy
Diabetic nephropathy
Diabetic neuropathy
Diabetic peripheral angiopathy
Diabetic polyneuropathy
Diabetic retinopathy
Diamond-blackfan anemia
Diaphanospondylodysostosis
Diaphragm disease
Diaphragmatic malformations
Diaphyseal bone disorder
Diarrhea
Dias-logan syndrome
Diastolic heart failure
Diastrophic dysplasia
Diastrophic dysplasia, broad bone-platyspondylic variant
Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency
Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency
Dicarboxylic aminoaciduria
Dicarboxylicaminoaciduria
Dicer1 syndrome
Dicer1 tumor-predisposition syndrome
Dicer1-related tumor predisposition
Diencephalic mesencephalic junction dysplasia
Diets-jongmans syndrome
Differentiated thyroid carcinoma
Diffuse cutaneous systemic sclerosis
Diffuse gastric adenocarcinoma
Diffuse gastric and lobular breast cancer syndrome
Diffuse idiopathic skeletal hyperostosis
Diffuse large b-cell lymphoma
Diffuse lymphatic malformation
Diffuse mesangial sclerosis
Diffuse nonepidermolytic palmoplantar keratoderma
Diffuse palmoplantar keratoderma
Diffuse panbronchiolitis
Digenic alport syndrome
Digenic hemochromatosis
Digeorge syndrome
Digestive system disease
Digestive system neoplasms
Digital arthropathy-brachydactyly, familial
Digital clubbing, isolated congenital
Digitotalar dysmorphism
Digitrenocerebral syndrome
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine metabolism disorder
Dilatation of left cardiac ventricle
Dilatation of pulmonary artery
Dilated cardiomyopathy
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dimauro disease
Dimethylglycine dehydrogenase deficiency
Direct inguinal hernia
Disabling pansclerotic morphea of childhood
Discoid lupus erythematosus
Discordant ventriculoarterial connection
Disease of genitourinary system
Disease of orbital region
Disease of peritoneum
Diseases of inner ear
Diseases of mitral valve
Dislocation of hip and facial dysmorphism syndrome
Dislocation of the hip-dysmorphism syndrome
Disorder due cytochrome p450 cyp2d6 variant
Disorder of acid-base balance
Disorder of appendix
Disorder of carbohydrate metabolism
Disorder of cardiovascular system
Disorder of cobalamin metabolism and transport
Disorder of copper metabolism
Disorder of development or morphogenesis
Disorder of ear
Disorder of eye
Disorder of fatty acid and ketone body metabolism
Disorder of fatty acid metabolism
Disorder of fatty acid oxidation and ketone body metabolism
Disorder of glycosylation
Disorder of iron metabolism and transport
Disorder of lysine and hydroxylysine metabolism
Disorder of magnesium metabolism
Disorder of optic nerve
Disorder of pharynx
Disorder of pilosebaceous unit
Disorder of pregnancy
Disorder of protein n-glycosylation
Disorder of sexual differentiation
Disorder of skeletal muscle
Disorder of skeletal system
Disorder of sulfur-bearing amino acid metabolism
Disorder of the urea cycle metabolism
Disorder of visual system
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Disorders involving the immune mechanism
Disorders of intracellular cobalamin metabolism
Disorders of porphyrin metabolism
Disorders of sex development
Disruptive, impulse control, and conduct disorders
Dissecting aortic aneurysm
Dissection of aorta
Disseminated intravascular coagulation
Disseminated superficial actinic porokeratosis
Distal amyotrophy
Distal anoctaminopathy
Distal arthrogryposis
Distal axonal motor neuropathy-myofibrillar myopathy syndrome
Distal hereditary motor neuropathy
Distal muscular dystrophy
Distal myopathy
Distal myotilinopathy
Distal nebulin myopathy
Distal renal tubular acidosis
Distal spinal muscular atrophy
Distichiasis-lymphedema syndrome
Disturbance in mood
Disturbance of skin sensation
Ditra syndrome
Diverticular disease
Diverticulitis
Dkc1-related disorder
Dna ligase iv deficiency
Dna repair-deficiency disorders
Dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum
Dna2-related mitochondrial dna deletion syndrome
Dock2 deficiency
Dog diseases
Dominant beta-thalassemia
Dominant dystrophic epidermolysis bullosa with absence of skin
Dominant dystrophic epidermolysis bullosa, albopapular type
Dominant hereditary optic atrophy
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dominantly inherited sensory neuropathy
Donnai-barrow syndrome
Donohue syndrome
Doors syndrome
Dopa-responsive dystonia
Dopamine transporter deficiency syndrome
Dorfman-chanarin disease
Dosage-sensitive sex reversal
Double outlet right ventricle
Doughnut lesion of calvaria and bone fragility syndrome
Dowling degos disease
Down syndrome
Doyne honeycomb retinal dystrophy
Drash syndrome
Dravet syndrome
Dry eye syndrome
Duane retraction syndrome
Duane-radial ray syndrome
Dubin-johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Ductal carcinoma
Ductal carcinoma of breast
Ductus arteriosus, patent
Duodenal atresia
Duodenal ulcer
Duodenitis
Duplication 15q11-q13 syndrome
Duplication of pituitary gland
Dupuytren contracture
Dursun syndrome
Dwarfism
Dworschak-punetha neurodevelopmental syndrome
Dyggve-melchior-clausen syndrome
Dysalbuminemic hyperthyroxinemia
Dysarthria
Dysautonomia
Dysbetalipoproteinemia
Dysbiosis
Dyschromatopsia
Dyschromatosis
Dyschromatosis symmetrica hereditaria
Dysentery
Dysequilibrium syndrome
Dyserythropoietic anemia with abnormal platelets and neutropenia
Dyserythropoietic anemia with thrombocytopenia
Dysferlinopathy
Dysfibrinogenemia
Dysgenesis of corpus callosum
Dysgnathia complex
Dyshidrosis
Dyskeratosis congenita
Dyskinesia
Dyskinesia with orofacial involvement
Dyskinesia, drug-induced
Dyskinesia, familial, with facial myokymia
Dyskinesia, limb and orofacial, infantile-onset
Dyslexia
Dyslipidemias
Dysphasia
Dysphonia
Dysphoric mood
Dyssegmental dysplasia
Dysspondyloenchondromatosis
Dysthymic disorder
Dystonia
Dystonia musculorum deformans
Dystonia, dopa-responsive, with or without hyperphenylalaninemia
Dystonia-deafness syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
Dystransthyretinemic euthyroidal hyperthyroxinemia
Dystrophic epidermolysis bullosa
Dystrophinopathy
Ear disease
Ear patella short stature syndrome
Ear, patella, short stature syndrome
Early onset alzheimers disease with behavioral disturbance
Early onset epilepsy with developmental delay
Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome
Early onset vitamin b6 dependent epilepsy
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Early-onset combined immunodeficiency with low ig due to dominant-negative ikaros mutation
Early-onset distal myopathy
Early-onset dystonia with spastic paraplegia
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Early-onset generalized limb-onset dystonia
Early-onset hypertension with severe exacerbation in pregnancy
Early-onset immune dysregulation due to dock11 complete deficiency
Early-onset immune dysregulation with autoimmunity due to dock11 partial deficiency
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset neurodegeneration with retinitis pigmentosa
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Early-onset parkinsonism-intellectual disability syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
East syndrome
East texas bleeding disorder
Eating disorder
Ebstein anomaly
Ebv-induced lymphoproliferative disease
Ectodermal dysplasia
Ectopia lentis
Ectopic rhythm
Ectopic thyroid tissue
Ectrodactyly
Eczema
Edema
Ehlers-danlos syndrome
Ehrlich tumor carcinoma
Eichsfeld type congenital muscular dystrophy
Eiken skeletal dysplasia
El-hayek-chahrour neurodevelopmental syndrome
Ellis-van creveld syndrome
Elsahy-waters syndrome
Embryonal carcinoma
Embryonal nuclear cataract
Emery dreifuss muscular dystrophy
Emery-dreifuss muscular dystrophy
Emphysema
Enamel-renal syndrome
Encephalitis
Encephalocele
Encephaloclastic proliferative vasculopathy
Encephalocraniocutaneous lipomatosis
Encephalopathy due to mitochondrial and peroxisomal fission defect
Endocrine neoplasms
Endocrine system disease
Endometrial cancer
Endometrial hyperplasia
Endometrial neoplasms
Endometrial stromal sarcoma
Endometrioid carcinoma
Endometriosis
Enterocolitis
Enteropathy
Eosinophilia
Eosinophilic leukemia
Epidermal nevus
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa simplex
Epidermolytic hyperkeratosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Epilepsy
Epilepsy due to perinatal stroke
Epilepsy of infancy with migrating focal seizures
Epilepsy with auditory features
Epilepsy with myoclonic absence
Epilepsy with myoclonic atonic seizures
Epiphyseal dysplasia
Episodic ataxia
Episodic kinesigenic dyskinesia
Episodic pain syndrome
Epithelial ovarian carcinoma
Erectile dysfunction
Erythematosquamous dermatosis
Erythrocyte amp deaminase deficiency
Erythrocyte galactose epimerase deficiency
Erythrocyte lactate transporter defect
Erythrocyte udp-galactose-4-epimerase deficiency
Erythrocytosis
Erythrocytosis due to tissue hypoxemia
Erythroid hypoplasia
Erythrokeratodermia variabilis
Erythrokeratodermia with ataxia
Erythrokeratodermia-cardiomyopathy syndrome
Erythromelalgia
Erythropoietic protoporphyria
Esophageal achalasia
Esophageal adenocarcinoma
Esophageal and gastric varices
Esophageal atresia
Esophageal cancer
Esophageal disease
Esophageal neoplasms
Esophageal squamous cell carcinoma
Esophageal stenosis
Esophageal ulcer
Esophageal varices
Esotropia
Essential pentosuria
Essential thrombocythemia
Essential tremor
Estrogen resistance
Estrogen-receptor negative breast cancer
Ewing sarcoma
Exanthema
Exostoses
Experimental arthritis
Experimental diabetes
Expressive language delay
Extraskeletal ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Extravasation of diagnostic and therapeutic materials
Extrinsic allergic alveolitis
Exudative retinopathy
Exudative vitreoretinopathy
Eye abnormalities
Eye disease
Eye manifestations
Eye neoplasms
Eye pain
Eyelid disease
Fabry disease
Facial dysmorphism syndrome
Facial nerve disorder
Facioscapulohumeral muscular dystrophy
Factor h deficiency
Factor i deficiency
Factor v deficiency
Factor vii deficiency
Factor viii deficiency
Factor x deficiency
Factor xi deficiency
Factor xii deficiency
Factor xiii deficiency
Fahr's disease
Familial adenomatous polyposis
Familial adult myoclonic epilepsy
Familial cylindromatosis
Familial danish dementia
Familial focal epilepsy with variable foci
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Familial hypoaldosteronism
Familial infantile convulsions with paroxysmal choreoathetosis
Familial mediterranean fever
Familial partial lipodystrophy
Familial polycythemia
Familial telangiectasia cancer syndrome
Familial temporal lobe epilepsy
Familial ventricular tachycardia
Familial wooly hair
Fanconi anemia
Fanconi renotubular syndrome
Fanconi syndrome
Fanconi-bickel syndrome
Farber disease
Fatigue syndrome
Fatty liver
Fatty liver, alcoholic
Febrile convulsion
Feingold syndrome
Female infertility
Female restricted epilepsy with intellectual disability
Ferroxidase deficiency
Fetal akinesia deformation sequence
Fetal erythroblastosis
Focal cortical dysplasia
Focal dermal hypoplasia
Focal dystonia
Focal epilepsy
Focal epilepsy with speech disorder and impaired intellectual development
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Focal facial dermal dysplasia
Focal glomerulosclerosis
Focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Focal onset epileptic seizure
Focal palmoplantar keratoderma with joint keratoses
Focal segmental glomerulosclerosis
Folic acid deficiency
Follicular cyst
Follicular lymphoma
Follicular thyroid cancer
Fraser syndrome
Frontal lobe epilepsy
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia with alopecia and genital anomaly
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with or without amyotrophic lateral sclerosis
Fructokinase deficiency
Fructosuria
Fuchs endothelial dystrophy
Fulminant viral hepatitis
Galactokinase deficiency
Galactose mutarotase deficiency
Galactosemia
Galactosialidosis
Gallbladder agenesis
Gallbladder disease
Gallbladder neoplasms
Galloway-mowat syndrome
Gallstones
Gastric cancer
Gastric ulcer
Gastritis
Gastro-entero-pancreatic neuroendocrine tumor
Gastroenteritis
Gastroesophageal reflux disease
Gastrointestinal defects and immunodeficiency syndrome
Gastrointestinal disease
Gastrointestinal hemorrhage
Gastrointestinal neoplasms
Gastrointestinal stromal tumor
Gastroparesis
Gastroschisis
Gata2 deficiency
Gaucher disease
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Geleophysic dysplasia
Gemistocytic astrocytoma
Generalized anxiety disorder
Generalized epilepsy
Generalized epilepsy with febrile seizures plus
Generalized lipodystrophy
Genetic generalized epilepsy
Genetic hemolytic uremic syndrome
Genetic hyperferritinemia without iron overload
Genetic infertility
Genetic lipodystrophy
Genetic neurodegenerative disease
Genetic panhypopituitarism
Genetic peripheral neuropathy
Genetic predisposition to disease
Genetic recurrent myoglobinuria
Genetic renal tubular disease
Genetic steroid-resistant nephrotic syndrome
Genetic syndromic pierre robin syndrome
Genetic torsion dystonia
Genetic transient congenital hypothyroidism
Gestational diabetes
Gestational trophoblastic disease
Ghosal hematodiaphyseal dysplasia
Giant axonal neuropathy
Giant cell arteritis
Giant cell glioblastoma
Giant cell tumor of bone
Giant cell tumor of tendon sheath
Gilbert syndrome
Gillespie syndrome
Gingival diseases
Gingivitis
Gitelman syndrome
Glanzmann thrombasthenia
Glass syndrome
Glaucoma
Glioblastoma
Glioma
Gliosarcoma
Global developmental delay
Glomerulonephritis
Glucocorticoid deficiency
Glucocorticoid deficiency with achalasia
Glucocorticoid receptor deficiency/resistance
Glucocorticoid-remediable aldosteronism
Glucose transporter type 1 deficiency syndrome
Glucose-6-phosphate dehydrogenase deficiency
Glutaminase deficiency
Glycerol kinase deficiency
Glycine encephalopathy
Glycine n-methyltransferase deficiency
Glycinuria with/without oxalate urolithiasis
Glycogen phosphorylase kinase deficiency
Glycogen storage disease
Glycoprotein ia deficiency
Glycoprotein storage disease
Glycoprotein vi deficiency
Glycosylphosphatidylinositol biosynthesis defect
Glyoxalase ii deficiency
Gm1 gangliosidosis
Gm2 gangliosidosis
Goldenhar syndrome
Goldmann-favre syndrome
Gollop-wolfgang complex
Gonadal dysgenesis
Gorlin syndrome
Gout
Gouty arthritis
Graft versus host disease
Graft-versus-host disease
Granulomatosis with polyangiitis
Granulomatous disease
Granulomatous inflammatory arthritis-dermatitis-uveitis, familial
Granulosa cell tumor of ovary
Graves disease
Graves ophthalmopathy
Greither disease
Griscelli syndrome
Groenouw corneal dystrophy
Gross motor development delay
Growth disorder
Growth hormone deficiency
Growth hormone deficiency with pituitary anomalies
Growth hormone insensitivity syndrome
Growth hormone insensitivity syndrome with immune dysregulation
Growth hormone insensitivity, partial
Growth hormone-secreting pituitary adenoma
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Growth retardation, alopecia, pseudoanodontia and optic atrophy
Growth retardation, developmental delay, and facial dysmorphism
Growth retardation, developmental delay, coarse facies, and early death
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
Growth retardation, mild developmental delay, chronic hepatitis syndrome
Guanidinoacetate methyltransferase deficiency
Haddad syndrome
Hairy cell leukemia
Hallermanns syndrome
Hallervorden spatz syndrome
Hallopeau siemens disease
Haploinsufficiency
Hashimoto disease
Head and neck cancer
Head and neck neoplasm
Head and neck neoplasms
Headache
Hearing impairment
Hearing loss
Hearing loss with hypertrophic cardiomyopathy
Hearing loss with stapes fixation
Heart defect, tongue hamartoma and polysyndactyly
Heart disease
Heart failure
Heart valve disease
Heart valve prolapse
Hecht syndrome
Heerfordt syndrome
Heimler syndrome
Helsmoortel-van der aa syndrome
Hemangiosarcoma
Hematologic disease
Hematologic neoplasms
Hematoma
Hematuria
Heme oxygenase deficiency
Hemifacial microsomia
Hemifacial myohyperplasia
Hemihyperplasia
Hemihyperplasia multiple lipomatosis syndrome
Hemimegalencephaly
Hemimelia of limb
Hemiparkinsonism
Hemiparkinsonism hemiatrophy syndrome
Hemiplegia
Hemiplegic migraine
Hemochromatosis
Hemoglobin barts fetalis syndrome
Hemoglobin c beta thalassemia
Hemoglobin c disease
Hemoglobin c-thalassemia disease
Hemoglobin d disease
Hemoglobin e beta thalassemia
Hemoglobin e disease
Hemoglobin f disease
Hemoglobin h disease
Hemoglobin high altitude adaptation
Hemoglobin lepore beta thalassemia
Hemoglobin m disease
Hemoglobin sc disease
Hemoglobin sd disease
Hemoglobin se disease
Hemoglobinopathy
Hemoglobinopathy toms river
Hemoglobinuria paroxysmal
Hemolysis
Hemolytic anemia
Hemolytic disease of fetus and newborn
Hemolytic uremic syndrome
Hemophagocytic lymphohistiocytosis
Hemophilia a
Hemophilia a carriers
Hemophilia b
Hemophilia b carriers
Hemorrhage
Hemorrhagic destruction of the brain subependymal calcification and cataracts
Hemorrhagic disease
Hemorrhagic fever crimean
Hemorrhagic fever with renal syndrome
Hemorrhagic stroke
Hemorrhoid
Hemosiderosis
Hengel maroofian schols syndrome
Hennekam syndrome
Henoch schoenlein purpura
Heparin cofactor 2 deficiency
Hepatic adenoma
Hepatic ductular hypoplasia
Hepatic encephalopathy
Hepatic fibrosis
Hepatic glycogen synthase deficiency
Hepatic insufficiency
Hepatic lipase deficiency
Hepatic methionine adenosyltransferase deficiency
Hepatic vein thrombosis
Hepatic veno occlusive disease
Hepatic veno occlusive disease with immunodeficiency
Hepatitis
Hepatitis a
Hepatitis animal
Hepatitis b
Hepatitis c
Hepatitis c induced liver cirrhosis
Hepatoblastoma
Hepatocellular carcinoma
Hepatoencephalopathy due to combined oxidative phosphorylation defect
Hepatoerythropoietic porphyria
Hepatolenticular degeneration
Hepatomegaly
Hereditary angioedema
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps
Hereditary antithrombin deficiency
Hereditary arginine vasopressin deficiency
Hereditary arterial and articular multiple calcification syndrome
Hereditary ataxia
Hereditary atrial fibrillation
Hereditary axonal motor and sensory neuropathy
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary breast-ovarian cancer syndrome
Hereditary bundle branch system defect
Hereditary c1 esterase inhibitor deficiency
Hereditary chronic pancreatitis
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary corneal dystrophy
Hereditary diffuse gastric and lobular breast cancer syndrome
Hereditary elliptocytosis
Hereditary folate malabsorption
Hereditary hearing loss
Hereditary hemochromatosis
Hereditary hemolytic anemia
Hereditary hemophagocytic lymphohistiocytosis
Hereditary hemorrhagic telangiectasia
Hereditary hyperekplexia
Hereditary motor and sensory neuropathies
Hereditary motor and sensory neuropathy
Hereditary neuropathy with liability to pressure palsies
Hereditary parkinson disease
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hereditary sensory and motor neuropathy
Hereditary spastic paraplegia
Hereditary steroid-resistant nephrotic syndrome
Hereditary xerocytosis
Hereditary, neuropathy with liability to pressure palsies
Hermansky-pudlak syndrome
Herpetic keratitis
Heterotaxy syndrome
Hirschsprung disease
Hmg-coa lyase deficiency
Hmg-coa synthase deficiency
Hoarding disorder
Hodgkin disease
Hodgkin lymphoma
Holoprosencephaly
Homocystinuria
Homocystinuria with megaloblastic anemia
Horizontal gaze palsy with progressive scoliosis
Houge janssens syndrome
Hoxha-aliu syndrome
Hoyeraal hreidarsson syndrome
Huntington disease
Hurthle cell thyroid cancer
Hyaline fibromatosis
Hyaluronoglucosaminidase deficiency
Hydatidiform mole
Hydranencephaly
Hydrocephalus
Hydrolethalus syndrome
Hydronephrosis
Hydrophthalmos
Hydrops fetalis
Hydrops with lactic acidosis and sideroblastic anemia
Hydroxymethylglutaryl-coa lyase deficiency
Hyper-igd syndrome
Hyper-ige recurrent infection syndrome
Hyper-ige syndrome
Hyper-igm immunodeficiency syndrome
Hyper-immunoglobulin d syndrome
Hyper-immunoglobulin e syndrome
Hyper-immunoglobulin m syndrome
Hyper-immunoglobulin syndrome
Hyperaldosteronism
Hyperalgesia
Hyperalphalipoproteinemia
Hyperammonemia
Hyperammonemic encephalopathy
Hyperandrogenism
Hyperbilirubinemia
Hyperbiliverdinemia
Hypercalcemia
Hypercalcemic tumoral calcinosis
Hypercalciuria
Hypercapnia
Hypercholanemia
Hypercholesterolemia
Hyperekplexia
Hyperekplexia epilepsy syndrome
Hyperemesis gravidarum
Hyperemia
Hypereosinophilic syndrome
Hyperesthesia
Hyperexplexia hereditary
Hyperferritinemia
Hypergammaglobulinemia
Hyperglycemia
Hyperglycinuria
Hyperhomocysteinemia
Hyperinflammatory lymphoproliferative immunodeficiency
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemia
Hyperkalemic periodic paralysis
Hyperkinesia
Hyperlipidemia
Hyperlipoproteinemia
Hyperopia
Hyperoxaluria
Hyperoxia
Hyperparathyroidism
Hyperphenylalaninemia
Hyperphosphatasia with intellectual disability syndrome
Hyperphosphatemic tumoral calcinosis
Hyperpituitarism
Hyperplasia
Hyperproinsulinemia
Hyperprolactinemia
Hyperprolinemia
Hyperreninemic hypoaldosteronism
Hypersensitivity
Hypertension
Hypertension and brachydactyly syndrome
Hypertensive heart disease
Hypertensive nephropathy
Hyperthermia
Hyperthyroidism
Hyperthyroxinemia
Hypertrichosis
Hypertriglyceridemia
Hypertrophic cardiomyopathy
Hypertrophic neuropathy
Hypertrophy
Hypertryptophanemia
Hypertyrosinemia
Hyperuricemia
Hyperuricemia syndrome
Hyperuricemic nephropathy
Hypervalinemia
Hypo-akinesia disorder of prenatal onset
Hypoaldosteronism
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Hypocalcemia
Hypocalcemic vitamin d-dependent rickets
Hypocalciuric hypercalcemia
Hypochromic anemia
Hypochromic microcytic anemia
Hypochromic sideroblastic anemia
Hypofibrinogenemia
Hypoglycemia
Hypogonadism
Hypogonadotropic hypogonadism
Hypohidrotic ectodermal dysplasia
Hypokalemia-hypomagnesemia
Hypomaturation amelogenesis imperfecta
Hypomyelinating leukodystrophy
Hypoparathyroidism
Hypophosphatasia
Hypophosphatemic rickets
Hypopituitarism
Hypoplastic anemia
Hypoplastic left heart syndrome
Hypospadias
Hypotension
Hypothyroidism
Hypotonia-cystinuria syndrome
Hypotrichosis
Hypotrichosis and recurrent skin vesicles
Hypotrichosis simplex
Hypoxia
Ichthyosis
Ichthyosis vulgaris
Idiopathic basal ganglia calcification
Idiopathic diabetes
Idiopathic generalized epilepsy
Idiopathic infantile hypercalcemia
Idiopathic pulmonary fibrosis
Idiopathic steroid-resistant nephrotic syndrome
Iga nephropathy
Ileocolitis
Imerslund-grasbeck syndrome
Iminoglycinuria
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection syndrome
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infection-lymphopenia syndrome
Immune system disease
Immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome
Imperforate anus
Infantile hypertriglyceridemia with hepatosteatosis
Infantile liver failure
Infantile myoclonic epilepsy
Infantile neurological cutaneous and articular syndrome
Infantile spasms
Infectious arthritis
Infective arthritis
Infertility
Inflammatory bowel disease
Inflammatory demyelinating polyneuropathy
Inflammatory skin disease
Insomnia
Intellectual developmental disorder
Intellectual developmental disorder autism dysmorphic
Intellectual developmental disorder autism speech
Intellectual developmental disorder autism speech dysmorphic
Intellectual developmental disorder behavioral dysmorphic
Intellectual developmental disorder behavioral short stature
Intellectual developmental disorder cataracts myopathy
Intellectual developmental disorder dysmorphic
Intellectual developmental disorder dysmorphic behavioral
Intellectual developmental disorder dysmorphic brain
Intellectual developmental disorder dysmorphic cardiac
Intellectual developmental disorder dysmorphic cardiac short stature
Intellectual developmental disorder dysmorphic cerebellar
Intellectual developmental disorder dysmorphic facial
Intellectual developmental disorder dysmorphic facial hearing joint
Intellectual developmental disorder dysmorphic hypotonia
Intellectual developmental disorder dysmorphic macrocephaly
Intellectual developmental disorder dysmorphic microcephaly
Intellectual developmental disorder dysmorphic ocular
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral
Intellectual developmental disorder dysmorphic ptosis
Intellectual developmental disorder dysmorphic seizures
Intellectual developmental disorder dysmorphic skeletal
Intellectual developmental disorder dysmorphic skeletal hair
Intellectual developmental disorder dysmorphic speech skeletal
Intellectual developmental disorder dysmorphic strabismus
Intellectual developmental disorder expressive speech dysmorphic
Intellectual developmental disorder growth behavioral
Intellectual developmental disorder growth metabolic
Intellectual developmental disorder growth microcephaly
Intellectual developmental disorder growth other organ
Intellectual developmental disorder growth seizures
Intellectual developmental disorder hemoglobin persistence
Intellectual developmental disorder hypotonia behavioral
Intellectual developmental disorder hypotonia spastic sleep
Intellectual developmental disorder hypotonic x-linked
Intellectual developmental disorder language autism
Intellectual developmental disorder language neurodegenerative
Intellectual developmental disorder macrocephaly hypotonia behavioral
Intellectual developmental disorder microcephaly cerebellar
Intellectual developmental disorder microcephaly ocular
Intellectual developmental disorder microcephaly strabismus behaviora
Intellectual developmental disorder movement cerebellar
Intellectual developmental disorder muscle skeletal
Intellectual developmental disorder neuropsychiatric
Intellectual developmental disorder peripheral neuropathy
Intellectual developmental disorder seizures behavioral
Intellectual developmental disorder seizures cerebellar
Intellectual developmental disorder seizures dysmorphic gait
Intellectual developmental disorder seizures dysmorphic skeletal
Intellectual developmental disorder seizures epilepsy
Intellectual developmental disorder seizures extrapyramidal
Intellectual developmental disorder seizures hypotonia skeletal
Intellectual developmental disorder seizures language
Intellectual developmental disorder seizures movement
Intellectual developmental disorder seizures polymicrogyria
Intellectual developmental disorder seizures speech
Intellectual developmental disorder short stature behavioral
Intellectual developmental disorder short stature facial
Intellectual developmental disorder short stature facial speech
Intellectual developmental disorder short stature skeletal
Intellectual developmental disorder speech ambulation
Intellectual developmental disorder speech autism dysmorphic
Intellectual developmental disorder speech dysmorphic
Intellectual developmental disorder speech dysmorphic t-cell
Intellectual developmental disorder speech peripheral neuropathy
Intellectual developmental disorder with retinitis pigmentosa
Intellectual developmental disorder, x-linked
Intellectual disability
Intellectual disability and myopathy syndrome
Intellectual disability syndrome
Intellectual disability with craniofacial anomalies and cardiac defects
Intellectual disability with craniofacial dysmorphism and macrocephaly
Intellectual disability with strabismus syndrome
Intellectual disability, anterior maxillary protrusion, and strabismus
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
Interferon gamma receptor deficiency
Interferonopathy
Interleukin 1 receptor antagonist deficiency
Interleukin 2 receptor deficiency
Interleukin 6 quantitative trait
Intermittent explosive disorder
Intermittent hydrarthrosis
Intermittent porphyria
Internal carotid artery stenosis
Internet addiction disorder
Interrupted aortic arch
Interstitial cystitis
Interstitial lung disease
Interstitial nephritis
Interstitial systitis
Intervertebral disc disease
Intervertebral disc displacement
Intestinal aganglionosis
Intestinal cancer
Intestinal disaccharide malabsorption
Intestinal disease
Intestinal dysmotility syndrome
Intestinal hypomagnesemia
Intestinal infectious disease
Intestinal neoplasms
Intestinal obstruction
Intestinal perforation
Intestinal polyposis
Intestinal polyps
Intestinal pseudo-obstruction
Intestinal vascular insufficiency
Intracerebral hemorrhage
Intracranial aneurysm
Intracranial arteriovenous malformation
Intracranial embolism
Intracranial embolism and thrombosis
Intracranial germ cell tumor
Intracranial hemorrhage
Intracranial hypertension
Intracranial thrombosis
Intracranial vasospasm
Intraductal noninfiltrating carcinoma
Intrahepatic bile duct cancer
Intrahepatic cholestasis
Intrahepatic cholestasis of pregnancy
Iodide peroxidase deficiency
Iridogoniodysgenesis
Iron deficiency anemia
Iron metabolism disorder
Iron overload
Iron-refractory iron deficiency anemia
Irritable bowel syndrome
Irritant dermatitis
Ischemic heart disease
Ischemic stroke
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension
Isobutyryl-coa dehydrogenase deficiency
Isolated anhidrosis
Isolated follicle-stimulating hormone deficiency
Isolated sensorineural deafness
Isolated somatotropin deficiency
Isolated systolic hypertension
Jarcho-levin syndrome
Jervell and lange-nielsen syndrome
Jeune syndrome
Jeune thoracic dystrophy
Joubert syndrome
Junctional epidermolysis bullosa
Juvenile absence epilepsy
Juvenile arthritis
Juvenile hyperuricemic nephropathy
Juvenile idiopathic arthritis
Juvenile myoclonic epilepsy
Juvenile parkinsonism
Kabuki syndrome
Kallmann syndrome
Kawasaki disease
Kenny caffey syndrome
Kenny-caffey syndrome
Keppen-lubinsky syndrome
Keratinocyte carcinoma
Keratitis
Keratitis ichthyosis deafness syndrome
Keratitis ichthyosis hearing loss syndrome
Keratitis-ichthyosis-deafness syndrome
Keratoconus
Keratosis
Keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans, x-linked
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Keratosis of greither
Keratosis palmoplantaris papulosa
Keratosis palmoplantaris striata
Kidney and ureter calculus
Kidney atrophy
Kidney cancer
Kidney disease
Kidney failure
Kidney neoplasms
Kindler epidermolysis bullosa
Kleefstra syndrome
Kleine-levin syndrome
Kleins syndrome
Klippel-feil syndrome
Klippel-trenaunay syndrome
Knobloch syndrome
Lacrimoauriculodentodigital syndrome
Lactic acidosis
Ladd syndrome
Lafora body disease
Lafora disease
Lamellar cataract
Lamellar ichthyosis
Language development disorders
Large artery stroke
Large cell carcinoma
Larsen syndrome
Laryngeal carcinoma
Laryngeal disease
Laryngeal hypoplasia
Laryngeal neoplasms
Laryngitis
Laryngo-onycho-cutaneous syndrome
Latent autoimmune diabetes in adults
Lateral temporal lobe epilepsy
Learning disorders
Leber congenital amaurosis
Leber hereditary optic neuropathy
Left ventricular disease
Left ventricular noncompaction cardiomyopathy
Leigh syndrome
Leiomyoma
Leiomyosarcoma
Leishmaniasis
Lennox-gastaut syndrome
Leopard syndrome
Lepore-beta-thalassemia syndrome
Leprechaunism syndrome
Leprosy
Lethal acantholytic epidermolysis bullosa
Lethal congenital contracture syndrome
Lethal neonatal rigidity and multifocal seizure syndrome
Leukemia
Leukocyte adhesion deficiency
Leukocyte disorders
Leukodystrophy
Leukoencephalopathy
Lewis lung carcinoma
Lewy body disease
Li-fraumeni syndrome
Liddle syndrome
Lig4 syndrome
Limb girdle muscular dystrophy
Limb-girdle muscular dystrophy
Limb-mammary syndrome
Lipidoses
Lipoatrophic diabetes mellitus
Lipodystrophy
Lipoidosis
Lipoma
Lipomatosis
Lipoprotein lipase deficiency
Liposarcoma
Lipoyltransferase deficiency
Lissencephaly
Lissencephaly, x-linked
Littles disease
Liver cancer
Liver cirrhosis
Liver cyst
Liver disease
Liver failure
Liver neoplasms
Lobular carcinoma
Loeys-dietz syndrome
Long qt syndrome
Long qt syndrome, digenic
Lucey-driscoll syndrome
Lung cancer
Lung disease
Lung neoplasms
Lupus nephritis
Lymphatic malformation
Lymphatic metastasis
Lymphatic system disease
Lymphedema
Lymphoblastic leukemia
Lymphocytic b-cell leukemia
Lymphocytic leukemia
Lymphoid leukemia
Lymphoma
Lymphoproliferative disorder of natural killer cells
Lymphoproliferative syndrome
Lynch syndrome
Machado-joseph disease
Macrocytic anemia
Macrogyria
Macronodular adrenal hyperplasia
Macrothrombocytopenia
Macrovascular complications of diabetes mellitus
Macular and posterior pole degeneration
Macular degeneration
Macular dystrophy
Macular telangiectasia
Maffucci syndrome
Mainzer-saldino disease
Majeed syndrome
Majewski syndrome
Major depressive disorder
Major salivary gland carcinoma
Mak-related retinopathy
Mal de meleda
Malabsorption syndrome
Malan syndrome
Male breast carcinoma
Male breast neoplasms
Male infertility
Male infertility acephalic spermatozoa
Male infertility globozoospermia
Male infertility large polyploid spermatozoa
Male infertility motility disorder
Male infertility round headed spermatozoa
Male infertility single gene azoospermia
Male infertility spermatogenesis disorder
Male infertility teratozoospermia
Male infertility testicular dysgenesis
Male infertility y chromosome microdeletion
Male pseudohypopituitarism
Male reproductive organ cancer
Male reproductive system disease
Maleylacetoacetate isomerase deficiency
Malignant glioma
Malignant hypertension
Malignant hyperthermia
Malignant migrating partial seizures of infancy
Malignant peripheral nerve sheath tumor
Malignant triton tumor
Malnutrition
Malocclusion
Malonic aciduria
Malonyl-coa decarboxylase deficiency
Malouf syndrome
Malpuech facial clefting syndrome
Malt lymphoma
Malunion fracture
Mandibuloacral dysostosis
Mandibuloacral dysplasia
Mandibulofacial dysostosis
Maple syrup urine disease
Marfan syndrome
Marinesco-sjogren syndrome
Marshall syndrome
Martsolf syndrome
Masa syndrome
Masp2 deficiency
Mast cell leukemia
Mastocytosis
Maternal hypertension
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young (mody)
Mayer-rokitansky-kuster-hauser syndrome
Meckel-gruber syndrome
Medullary carcinoma
Medullary thyroid cancer
Medulloblastoma
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaloblastic anemia
Meier-gorlin syndrome
Melanocytic nevus
Melanoma
Melas syndrome
Meleda disease
Membranous glomerulonephritis
Memory disorders
Meniere disease
Meningioma
Merkel cell carcinoma
Mesangiocapillary glomerulonephritis
Mesothelioma
Metabolic bone disorder
Metabolic syndrome
Metachromatic leukodystrophy
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia with retinitis pigmentosa
Metaphyseal dysplasia
Metaphyseal enchondromatosis
Methemoglobinemia
Methylmalonic acidemia
Methylmalonyl-coa mutase deficiency
Mevalonate kinase deficiency
Microcephalic dwarfism
Microcephaly
Microcephaly, epilepsy, and diabetes syndrome
Microcytic anemia
Microform holoprosencephaly
Micrognathism
Microgyria
Microhydranencephaly
Microlissencephaly
Micromelia
Micropenis
Microphthalmia
Microphthalmia with retinitis pigmentosa and ocular anomalies
Microphthalmos
Microscopic colitis
Microscopic polyangiitis
Microspherophakia
Microstomia
Microtia
Microvascular angina
Microvascular complications of diabetes mellitus
Microvillus inclusion disease
Middle aortic syndrome
Middle ear cholesteatoma
Middle east respiratory syndrome
Middle lobe syndrome
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
Midline facial cleft
Migraine
Mild cognitive impairment
Miles-carpenter syndrome
Miller-dieker syndrome
Mineralocortocoid excess
Minor epilepsy
Mirror movements
Mitochondrial complex deficiency
Mitochondrial disease
Mitochondrial dna depletion syndrome
Mitochondrial encephalocardiomyopathy
Mitochondrial encephalomyopathy
Mitochondrial encephalopathy
Mitochondrial hepatopathy
Mitochondrial myopathy
Mitochondrial myopathy with sideroblastic anemia
Mitral valve prolapse
Mixed connective tissue disease
Mobius syndrome
Monomelic amyotrophy
Mood disorder
Mosaic variegated aneuploidy
Motor neuron disease
Motor skills disorder
Mountain sickness
Mouth disease
Mouth neoplasms
Movement disorder
Mowat-wilson syndrome
Moyamoya angiopathy
Moyamoya disease
Mucocutaneous ulceration
Mucocutaneous venous malformations
Mucoepidermoid carcinoma
Mucoepithelial dysplasia
Mucolipidosis
Mucopolysaccharidosis
Mucosa-associated lymphoma
Mucositis
Mucosulfatidosis
Muenke syndrome
Muggenthaler-chowdhury-chioza syndrome
Muir-torre syndrome
Mulibrey nanism
Multicystic dysplastic kidney
Multifocal osteomyelitis
Multiminicore myopathy
Multinodular goiter
Multiple familial trichoepithelioma
Multiple intestinal atresia
Multiple myeloma
Multiple sclerosis
Multiple synostoses syndrome
Multiple system atrophy
Multisystem disorder
Muscle eye brain disease
Muscular dystrophy
Myasthenia gravis
Myasthenic syndrome
Mycosis fungoides
Myelodysplastic syndrome
Myelogenous leukemia
Myeloid leukemia
Myelomonocytic leukemia
Myeloproliferative disease, unclassifiable
Myeloproliferative disorder
Myhre syndrome
Myoadenylate deaminase deficiency
Myocardial infarction
Myocardial ischemia
Myocarditis
Myoclonic dystonia
Myoclonic encephalopathy
Myoclonic epilepsy
Myoclonic epilepsy with ragged red fibers
Myoclonus-renal failure syndrome
Myofibrillar myopathy
Myofibromatosis
Myopathic ophthalmopathy
Myopathy
Myopia
Myosin storage myopathy
Myositis
Myotonia
Myotonia congenita
Myotonic dystrophy
Nail dystrophy
Nanophthalmos
Narcolepsy
Nasal disorder
Nasal obstruction
Nasal polyp
Nasodigitoacoustic syndrome
Nasopalpebral lipoma-coloboma syndrome
Nasopharyngeal carcinoma
Nasopharyngeal neoplasms
Nasu-hakola disease
Native american myopathy
Natural killer cell deficiency
Nausea
Navajo neurohepatopathy
Naxos disease
Nebulin-related myopathy
Necrosis
Nemaline myopathy
Neonatal anemia
Neonatal convulsions
Neonatal diabetes mellitus
Neonatal encephalopathy
Neonatal hyperbilirubinemia
Neoplasms
Neovascular inflammatory vitreoretinopathy
Nephrogenic diabetes insipidus
Nephrolithiasis
Nephronophthisis
Nephronophthisis-like nephropathy
Nephropathic cystinosis
Nephropathy with pretibial epidermolysis bullosa and deafness
Nephrosclerosis
Nephrotic syndrome
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
Nephrotic syndrome, focal segmental type
Nephrotic syndrome, idiopathic, steroid-resistant
Nephrotic syndrome, steroid-resistant, autosomal recessive
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Nervous system disease
Neural tube defect
Neural tube defects, folate-sensitive
Neural tube defects, susceptibility to
Neural tube defects, x-linked
Neuralgic amyotrophy
Neuroblastoma
Neurodegeneration peripheral neuropathy syndrome
Neurodegeneration with brain iron accumulation
Neurodegenerative disorder
Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment
Neurodevelopmental disorder
Neurodevelopmental disorder with dilated cardiomyopathy
Neurofibromatosis
Neurofibromatosis-noonan syndrome
Neurofibrosarcoma
Neurogenic bladder
Neurogenic diabetes insipidus
Neurohypophyseal diabetes insipidus
Neuromuscular disease
Neuronal ceroid lipofuscinosis
Neuroocular syndrome
Neurooculocardio-genitourinary syndrome
Neurooculorenal syndrome
Neuropathic spinal arthropathy
Neuropathy
Neuropathy, ataxia, and retinitis pigmentosa
Neuropathy, congenital hypomyelinating
Neurotic disorder
Neutral lipid storage disease with ichthyosis
Neutropenia
Neutropenia, nonimmune chronic idiopathic, adult
Neutrophilic leukemia
Niemann-pick disease
Night blindness, congenital stationary
Nocturnal frontal lobe epilepsy
Non-hodgkins lymphoma
Non-immune hydrops fetalis
Non-melanoma skin carcinoma
Non-neoplastic peripheral nervous system disease
Non-organic psychosis
Non-small cell lung carcinoma
Non-small-cell lung carcinoma
Non-specific syndromic intellectual disability
Non-syndromic cataract
Nonalcoholic fatty liver disease
Nonmedullary thyroid cancer
Nonobstructive azoospermia
Nonsyndromic hearing loss
Nonsyndromic intellectual disability
Noonan syndrome
Normal pressure hydrocephalus
Nuclear cataract
Nystagmus
Obesity
Obsessive-compulsive disorder
Obstructive airway disease
Obstructive asthma
Obstructive azoospermia
Obstructive pulmonary disease
Obstructive sleep apnea syndrome
Occupational dermatitis
Occupational disease
Ochoa syndrome
Ocular albinism
Ocular albinism with sensorineural deafness
Ocular anomalies with axonal neuropathy and developmental delay
Ocular cystinosis
Ocular dysgenesis
Ocular hypertension
Ocular hypotension
Ocular sarcoidosis
Oculoauricular syndrome
Oculocerebrodental syndrome
Oculocerebrofacial syndrome
Oculocerebrorenal syndrome
Oculocutaneous albinism
Oculopalatosekeletal syndrome
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Odontochondrodysplasia with hearing loss and diabetes
Oguchi disease
Oligoarticular juvenile idiopathic arthritis
Oligodendroglioma
Olmsted syndrome
Olmsted syndrome, x-linked
Omenn syndrome
Omodysplasia
Omphalocele exstrophy imperforate anus
Oocyte maturation defect
Open angle glaucoma
Ophthalmoplegia
Opitz g/bbb syndrome
Optic atrophy
Optic neuritis
Optic neuropathy
Oral cavity carcinoma
Oral submucous fibrosis
Orofacial cleft
Orofaciodigital syndrome
Oropharyngeal cancer
Oropharyngeal dysphagia
Oropharyngeal neoplasms
Orthostatic hypotension
Osteoarthritis
Osteochondrodysplasia
Osteochondrodysplasias
Osteochondroma
Osteocraniostenosis
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenic sarcoma
Osteoglophonic dwarfism
Osteoglophonic dysplasia
Osteolysis
Osteolysis, hereditary multicentric
Osteolysis, hereditary, of carpal bones with or without nephropathy
Osteoma cutis
Osteomalacia
Osteomyelitis
Osteonecrosis
Osteonecrosis of medial femoral condyle
Osteonecrosis of the femoral head
Osteootohepatoenteric syndrome
Osteopathia striata with cranial sclerosis
Osteopenia
Osteopetrosis
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopoikilosis
Osteoporosis
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Osteosclerosis
Other epidermolysis bullosa
Otodental dysplasia
Otodental syndrome
Otofacial neurodevelopmental syndrome
Otofaciocervical syndrome
Otopalatodigital spectrum disorder
Otopalatodigital syndrome
Otosclerosis
Otospondylomegaepiphyseal dysplasia
Ovarian agenesis
Ovarian cancer
Ovarian cysts
Ovarian diseases
Ovarian dysgenesis
Ovarian epithelial cancer
Ovarian hyperstimulation syndrome
Ovarian mucinous adenocarcinoma
Ovarian neoplasms
Ovarian serous carcinoma
Ovarian teratoma
Overactive bladder
Oxysterol accumulation disorder
Pachyonychia congenita
Paget disease
Palmoplantar keratoderma and congenital alopecia
Palmoplantar keratoderma with congenital alopecia
Pancreatic cancer
Pancreatic cyst
Pancreatic diseases
Pancreatic ductal carcinoma
Pancreatic insufficiency syndrome
Pancreatic lipase deficiency
Pancreatic neoplasms
Pancreatic trypsinogen deficiency
Pancreatitis
Pancytopenia
Panhypopituitarism
Panic disorder
Panniculitis
Pantothenate kinase-associated neurodegeneration
Panuveitis
Papa syndrome
Papillary thyroid cancer
Papilloma
Papillon-lefevre syndrome
Papillorenal syndrome
Paracoccidioidomycosis
Paraganglioma
Paralysis
Paralytic strabismus
Paramyotonia congenita
Paraneoplastic syndrome
Paranoia
Paranoid schizophrenia
Paraparesis
Paraplegia
Parapsoriasis
Paraquat lung disease
Parastremmatic dwarfism
Parathyroid carcinoma
Parathyroid disease
Parathyroid neoplasm
Parathyroid neoplasms
Parenchymal hematoma
Parenti-mignot neurodevelopmental syndrome
Paresis
Paresthesia
Parietal foramina
Parieto-occipital craniosynostosis
Paris-trousseau thrombocytopenia
Parkes weber syndrome
Parkinson disease
Parkinson-dementia complex of guam
Parkinson-dementia syndrome
Parkinsonian-pyramidal syndrome
Parkinsonism with cognitive impairment
Parkinsonism with polyneuropathy
Parkinsonism with spasticity, x-linked
Parkinsonism-dystonia
Paroxysmal atrial fibrillation
Paroxysmal dyskinesia
Paroxysmal dystonia
Paroxysmal dystonic choreoathetosis
Paroxysmal extreme pain disorder
Paroxysmal familial ventricular fibrillation
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal tachycardia
Paroxysmal ventricular fibrillation
Partial adenosine deaminase deficiency
Partial agenesis of corpus callosum
Partial androgen insensitivity syndrome
Partial atrioventricular canal defect
Partial corpus callosum agenesis
Partial corpus callosum agenesis, x-linked
Partial deficiency of methylmalonyl-coenzyme a mutase
Partial deletion of short arm of chromosome 3
Partial epilepsy
Partial epilepsy with variable foci
Partial hydatidiform mole
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Partial lipodystrophy
Partial pancreatic agenesis
Partington syndrome
Pash syndrome
Patellar aplasia
Patellar tendinitis
Patent ductus arteriosus
Patent ductus venosus
Patterned macular dystrophy
Patterson stevenson fontaine syndrome
Peeling skin syndrome
Peeling skin syndrome with leukonychia and acral punctate keratoses
Peho syndrome
Peho-like syndrome
Pelger-huet anomaly
Peliosis hepatis
Pelizaeus-merzbacher disease
Pelvic inflammatory disease
Pelvic organ prolapse
Pelviscapular dysplasia
Pemphigus
Pemphigus foliaceus
Pemphigus vulgaris
Pena-shokeir syndrome
Pendred syndrome
Penile disease
Penile hypospadia
Penile neoplasms
Peptic esophagitis
Peptic ulcer disease
Perching syndrome
Periapical periodontitis
Pericardial effusion
Pericarditis
Pericardium disorder
Perinatal disease
Perinatal hemolytic anemia
Periodic limb movement disorder
Periodic paralysis
Periodic paralysis with later-onset distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Periodontal disease
Periodontal ehlers-danlos syndrome
Periodontitis
Peripheral arterial disease
Peripheral nervous system disease
Peripheral neuropathy
Peripheral neuropathy myopathy hoarseness hearing loss syndrome
Peripheral neuropathy with sensorineural hearing impairment syndrome
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Peripheral neuropathy, myopathy, hoarseness, and hearing
Peripheral primitive neuroectodermal tumor
Peripheral pulmonary artery stenosis
Peripheral vascular disease
Peripheral vertigo
Periportal fibrosis
Periprosthetic osteolysis
Perisylvian polymicrogyria
Perisylvian syndrome
Peritoneal fibrosis
Peritoneal neoplasms
Peritonitis
Periventricular heterotopia
Periventricular heterotopia with microcephaly, autosomal recessive
Periventricular heterotopia, x-linked
Periventricular laminar heterotopia
Periventricular leukomalacia
Periventricular nodular heterotopia
Perlman syndrome
Pernicious anemia
Perniola krajewska carnevale syndrome
Peroneal muscle atrophy
Peroxisomal acyl-coa oxidase deficiency
Peroxisomal disorder
Peroxisomal fatty acyl-coa reductase 1 disorder
Peroxisome biogenesis disorder
Perrault syndrome
Persistent hepatitis
Pfaundler-hurler syndrome
Pfeiffer syndrome
Phenylketonuria
Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome
Phosphoribosylaminoimidazole carboxylase deficiency
Phosphoserine phosphatase deficiency
Pituitary adenoma
Pituitary dwarfism
Pituitary gigantism
Pituitary hormone deficiency
Pituitary neoplasms
Pituitary short stature
Pituitary stalk interruption syndrome
Platelet disorder
Platelet-type bleeding disorder
Pleural diseases
Polyarticular juvenile idiopathic arthritis
Polycystic kidney disease
Polycystic kidney disease with tuberous sclerosis
Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polycystic ovary syndrome
Polycythemia
Polycythemia vera
Polycythemia, primary familial and congenital
Polydactyly
Polydactyly-macrocephaly syndrome
Polymicrogyria
Polymorphic catecholaminergic ventricular tachycardia
Polymorphic ventricular tachycardia
Polymorphous corneal dystrophy
Polymyalgia rheumatica
Polymyositis
Polynesian bronchiectasis
Polyneuropathy
Pontocerebellar hypoplasia
Popliteal pterygium syndrome
Porokeratosis
Porphyria
Porphyria cutanea tarda
Porphyruria
Port-wine stain
Portal hypertension
Portal vein thrombosis
Post-operative acute kidney injury
Post-operative atrial fibrillation
Post-operative myocardial infarction
Post-operative stroke
Post-traumatic stress disorder
Postaxial acrofacial dysostosis
Postaxial polydactyly
Posterior column ataxia with retinitis pigmentosa
Posterior cortical atrophy
Posterior polar cataract
Posterior polymorphous corneal dystrophy
Posterior subcapsular cataract
Postictal aphasia
Postsynaptic congenital myasthenic syndrome
Posttraumatic porencephalic cyst of brain
Potassium deficiency
Potassium-aggravated myotonia
Potocki-lupski syndrome
Potocki-shaffer syndrome
Prader-willi syndrome
Prader-willi-like syndrome
Pre-eclampsia
Preaxial polydactyly with upper back hypertrichosis
Prediabetes
Preeclampsia
Premature ovarian failure
Presynaptic congenital myasthenic syndrome
Presynaptic congenital myasthenic syndromes
Primary adrenal insufficiency
Primary aldosteronism
Primary angle closure glaucoma
Primary bilateral macronodular adrenal hyperplasia
Primary coenzyme q10 deficiency
Primary congenital glaucoma
Primary cutaneous anaplastic large cell lymphoma
Primary erythromelalgia
Primary familial brain calcification
Primary graft dysfunction
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Primary hypertrophic osteoarthropathy
Primary hypomagnesemia with hypocalciuria
Primary immunodeficiency with defective natural killer cell cytotoxicity
Primary microcephaly
Prion disease
Prognathism
Progressive arterial occlusive disease with hypertension
Progressive contractures limb-girdle weakness muscle dystrophy syndrome
Progressive external ophthalmoplegia
Progressive intrahepatic cholestasis
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy with intracellular inclusions
Progressive myoclonic epilepsy with renal failure
Progressive supranuclear palsy
Prolidase deficiency
Proliferative diabetic retinopathy
Promyelocytic leukemia
Prostate cancer
Prostatic disease
Prostatic hyperplasia
Prostatic intraepithelial neoplasia
Prostatic neoplasms
Proteasome associated autoinflammatory syndrome
Proteinuria
Proximal renal tubular acidosis
Proximal spinal muscular atrophy
Proximal symphalangism
Prpp synthetase superactivity
Pruritus
Pseudo-torch syndrome
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudoxanthoma elasticum
Psoriasis
Psoriasis vulgaris
Psoriatic arthritis
Psychiatric disorders
Psychotic disorders
Ptosis
Pulmonary agenesis
Pulmonary alveolar proteinosis
Pulmonary arterial hypertension
Pulmonary edema
Pulmonary fibrosis
Pulmonary hypertension
Pulmonary surfactant metabolism dysfunction
Pyoderma gangrenosum
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Pyridoxamine 5'-phosphate oxidase deficiency
Pyridoxine dependent epilepsy
Pyridoxine-dependent epilepsy
Pyruvate kinase deficiency
Raynaud disease
Reactive arthritis
Recurrent multifocal osteomyelitis
Reducing body myopathy
Refractory anemia
Refsum disease
Regressive neurodevelopmental disorder dystonia seizures
Renal agenesis
Renal cell carcinoma
Renal cysts and diabetes syndrome
Renal dysplasia
Renal glycosuria
Renal hypertension
Renal hypoplasia
Renal pelvis neoplasms
Renovascular hypertension
Repolarization syndrome
Resistant hypertension
Respiratory distress with surfactant metabolism deficiency
Respiratory system cancer
Respiratory system disease
Respiratory system infectious disease
Respiratory system neoplasm
Restrictive cardiomyopathy
Restrictive dermopathy
Retinal arterial tortuosity
Retinal cone dystrophy
Retinal degeneration
Retinal detachment
Retinal vasculopathy with cerebral leukodystrophy
Retinitis pigmentosa
Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa with choroidal involvement
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa with or without skeletal anomalies
Retinitis pigmentosa, digenic
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinitis punctata albescens
Retinoblastoma
Retinopathy
Retinopathy background
Retinopathy of prematurity
Retinopathy-sensory neuropathy syndrome
Retinoschisis
Retractile testis
Retrognathia
Retrograde amnesia
Rett syndrome
Revesz debuse syndrome
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Rh isoimmunization
Rh-null, amorph type
Rh-null, regulator type
Rhabdoid tumor
Rhabdoid tumor predisposition syndrome
Rhabdomyolysis
Rhabdomyoma
Rhabdomyosarcoma
Rhegmatogenous retinal detachment
Rheumatic aortic regurgitation
Rheumatic aortic stenosis
Rheumatic disease
Rheumatic disease of mitral valve
Rheumatic fever
Rheumatic heart disease
Rheumatic mitral regurgitation
Rheumatoid arthritis
Rhinitis
Rhinoscleroma
Rhinosinusitis
Rhizomelia
Rhizomelic chondrodysplasia punctata
Rhizomelic dysplasia, ain-naz type
Rhizomelic limb shortening with dysmorphic features
Rhizomelic skeletal dysplasia with or without pelger-huet anomaly
Rhyns syndrome
Rib fracture
Riboflavin deficiency
Riboflavin transporter deficiency
Ribose 5-phosphate isomerase deficiency
Ribose-5-phosphate isomerase deficiency
Richieri costa pereira syndrome
Rickets
Rickets, x-linked hypophosphatemic
Riddle syndrome
Rieger syndrome
Rienhoff syndrome
Right aortic arch
Right atrial isomerism
Right bundle branch block
Right cardiac ventricular dilatation
Right hypoplastic heart syndrome
Right isomerism
Right ventricle hypoplasia
Right ventricular cardiomyopathy
Right ventricular hypertrophy
Rigid spine muscular dystrophy
Rigidity and multifocal seizure syndrome, lethal neonatal
Riley-day syndrome
Rin2 syndrome
Ring dermoid of cornea
Rippling muscle disease
Ritscher-schinzler syndrome
Roberts syndrome
Roberts-sc phocomelia syndrome
Robin sequence with cleft mandible and limb anomalies
Robinow syndrome
Rod-cone dystrophy
Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction
Roifman syndrome
Rolandic epilepsy
Rosacea
Rotary nystagmus
Rotator cuff tear
Rothmund-thomson syndrome
Rotor syndrome
Roussy-levy syndrome
Rubinstein-taybi syndrome
Rudiger syndrome
Rufous oculocutaneous albinism
Ruijs-aalfs syndrome
Rupture, spontaneous
Ruptured abdominal aortic aneurysm
Ruptured aortic aneurysm
Ruptured thoracic aortic aneurysm
Russell-silver syndrome
S-adenosylhomocysteine hydrolase deficiency
Saccharopinuria
Sacral agenesis
Sacral defect
Sacroiliac arthritis
Sacroiliac joint synovitis
Sacroiliitis
Saethre-chotzen syndrome
Saldino-mainzer syndrome
Saldino-noonan syndrome
Salivary gland agenesis
Salivary gland disease
Salivary gland neoplasms
Salla disease
Salt and pepper developmental regression syndrome
Salt-sensitive hypertension
Sandestig-stefanova syndrome
Sandhoff disease
Sanfilippo syndrome
Sanjad-sakati syndrome
Sapho syndrome
Sarcoglycanopathies
Sarcoidosis
Sarcoma
Sarcopenia
Sarcosine dehydrogenase deficiency
Sarcosinemia
Sarcotubular myopathy
Satb2 associated syndrome
Saul-wilson syndrome
Say meyer syndrome
Scapuloperoneal myopathy
Scapuloperoneal spinal muscular atrophy
Schaaf-yang syndrome
Schilder disease
Schimmelpenning-feuerstein-mims syndrome
Schindler disease
Schizencephaly
Schizoaffective disorder
Schizophrenia
Schopf-schulz-passarge syndrome
Schwannomatosis
Schwartz-jampel syndrome
Schwartz-lelek syndrome
Scleroderma
Sclerosing cholangitis
Sclerosis
Sclerosteosis
Scoliosis
Seasonal affective disorder
Seasonal allergic rhinitis
Sebaceous gland disease
Sebaceous gland neoplasms
Sebastian syndrome
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
Seborrheic dermatitis
Seborrheic keratosis
Seckel syndrome
Secondary malignant neoplasm
Secondary parkinson disease
Secondary polycythemia
Sedoheptulokinase deficiency
Seizure
Seizures
Seizures, scoliosis, and macrocephaly/microcephaly syndrome
Seizures, tonic-clonic, photosensitive
Selective iga deficiency disease
Selective immunoglobulin a deficiency
Semilobar holoprosencephaly
Seminoma
Sengers syndrome
Senile cataract
Senile systemic amyloidosis
Senior-boichis syndrome
Senior-loken syndrome
Sensorineural deafness with dilated cardiomyopathy
Sensorineural deafness with renal dysfunction
Sensorineural hearing loss thrombocytopenia syndrome
Sensory ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory neuropathy
Sensory peripheral neuropathy
Senter syndrome
Separation anxiety disorder
Sepsis
Septo-optic dysplasia
Septopreoptic holoprosencephaly
Serrated polyposis
Sertoli-leydig cell tumor of ovary
Serum bilirubin level
Severe combined immunodeficiency
Severe congenital neutropenia
Severe lipodystrophic laminopathy
Severe neonatal spondylometaphyseal dysplasia
Sezary syndrome
Sheehan syndrome
Sheldon-hall syndrome
Short qt syndrome
Short rib dysplasia-polydactyly syndrome
Short stature skeletal dysplasia retinal degeneration intellectual disability hearing loss syndrome
Short stature spectrum
Short syndrome
Short telomere syndrome
Short-rib thoracic dysplasia
Shprintzen-goldberg syndrome
Shukla-vernon syndrome
Shwachman-diamond syndrome
Shy-drager syndrome
Sialidosis
Sialolithiasis
Sick sinus syndrome
Sickle cell anemia
Sideroblastic anemia
Sideroblastic anemia with b-cell immunodeficiency
Silver-russell syndrome
Simpson syndrome
Simpson-golabi-behmel syndrome
Sinusitis
Sitosterolemia
Situs ambiguus
Situs inversus
Sjogren syndrome
Sjogren-larsson syndrome
Skeletal dysplasia
Skeletal ewing sarcoma
Skeletal system disease
Skin abnormalities
Skin cancer
Skin disease
Skin hair eye pigmentation variation
Skin neoplasms
Skin ulcer
Skraban-deardorff syndrome
Sleep apnea
Sleep deprivation
Sleep disorder
Small cell carcinoma
Small cell lung carcinoma
Small cell ovary carcinoma
Small vessel stroke
Smith-lemli-opitz syndrome
Smith-magenis syndrome
Smith-mccort dysplasia
Smooth surface dental caries
Soft tissue neoplasms
Sotos syndrome
Spastic ataxia
Spastic ataxia of charlevoix-saguenay
Spastic ataxia optic atrophy dysarthria syndrome
Spastic ataxia with leukoencephalopathy
Spastic paraplegia
Spastic paraplegia, x-linked
Spasticity with hyperglycinemia
Specific granule deficiency
Specific language disorder
Specific learning disability
Spectrum and myeloid neoplasm risk
Spermatocele
Spermatogenic failure
Spermatogenic failure, x-linked
Spermatogenic failure, y-linked
Spherocytosis
Spinal cord compression
Spinal muscular atrophy
Spinocerebellar ataxia
Spinocerebellar ataxia blindness deafness syndrome
Spinocerebellar ataxia, x-linked
Splenic disease
Splenic hypoplasia
Splenic neoplasms
Splenomegaly
Split hand-foot malformation
Spondylocostal dysostosis
Spondyloepimetaphyseal dysplasia
Spondyloepiphyseal dysplasia
Spondylometaphyseal dysplasia
Spondylosis
Spontaneous coronary artery dissection
Squamous cell carcinoma
Stargardt disease
Status epilepticus
Steroid 11-beta-monooxygenase deficiency
Steroid 17-alpha-monooxygenase deficiency
Steroid-resistant nephrotic syndrome
Sterol carrier protein 2 deficiency
Stevens-johnson syndrome
Stickler syndrome
Stomach disease
Stomach neoplasms
Stomatitis
Strabismus
Stress urinary incontinence
Stress-induced neurodegenerative ataxia seizure syndrome
Striatal neurodegeneration
Stroke
Stuve-wiedemann syndrome
Substance abuse
Substance-induced psychosis
Sutural cataract
Sveinsson chorioretinal atrophy
Sweat gland disease
Sweat gland neoplasm
Sweeney-cox syndrome
Sweet syndrome
Swyer syndrome
Syndactyly
Syndactyly of the toes
Synovial disorder
Synovial sarcoma
Synovitis
Synovitis, acne, pustulosis, hyperostosis, and osteitis
Synpolydactyly
Syntactic aphasia
Syntelencephaly
Systemic lupus erythematosus
Systemic mastocytosis
Systemic primary carnitine deficiency
Systemic scleroderma
Systemic sclerosis
T-cell leukemia-lymphoma
Tay-sachs disease
Teebi syndrome
Telangiectasia macularis eruptiva perstans
Telomere syndrome
Telomere-related pulmonary fibrosis and/or bone marrow failure
Temperature-sensitive oculocutaneous albinism
Temple syndrome
Temple-baraitser syndrome
Temporal lobe epilepsy
Teratozoospermia
Terminal complement component deficiency
Terminal osseous dysplasia with pigmentary defects
Tessadori-van haaften neurodevelopmental syndrome
Tessier facial cleft
Testicular anomaly with congenital heart disease
Testicular azoospermia
Testicular carcinoma
Testicular disease
Testicular germ cell tumor
Testicular hydrocele
Testicular neoplasms
Testicular regression syndrome
Testicular seminoma
Testis atrophy
Testotoxicosis
Tetany
Tethered cord syndrome
Tetra-amelia syndrome
Tetrahydrobiopterin-responsive phenylketonuria
Tetralogy of fallot
Thalassemia
Thalassemia intermedia
Thanatophoric dysplasia
Thauvin-robinet-faivre syndrome
Thiamine deficiency
Thiamine metabolism dysfunction syndrome
Thiamine-responsive encephalopathy
Thiamine-responsive maple syrup urine disease
Thiamine-responsive megaloblastic anemia
Thiel-behnke corneal dystrophy
Thiopurine immunosuppressant-induced pancreatitis
Thiopurine s-methyltransferase deficiency
Thoracic aortic aneurysm
Thoracic aortic aneurysm and aortic dissection
Thoracic disease
Thoracic malformation
Thoracic neoplasms
Thoracoabdominal aortic aneurysm
Three-vessel coronary artery disease
Throat disease
Thrombasthenia
Thrombasthenia-thrombocytopenia
Thromboangiitis obliterans
Thrombocythemia
Thrombocythemia with distal limb defects
Thrombocytopenia
Thrombocytopenia with anemia and myelofibrosis
Thrombocytopenia with dyserythropoietic anemia
Thrombocytopenia with normal platelets
Thrombocytopenia with platelet secretion defect
Thrombocytosis
Thromboembolic pulmonary hypertension
Thromboembolism
Thrombomodulin-related bleeding disorder
Thrombophilia
Thrombophlebitis
Thrombosis
Thrombotic microangiopathy
Thyroid agenesis
Thyroid cancer
Thyroid carcinoma
Thyroid disease
Thyroid dyshormonogenesis
Thyroid gland neoplasms
Thyroid hemiagenesis
Thyroid hormone metabolism disorder
Thyroid hormone resistance
Thyroid neoplasms
Thyroiditis
Thyrotoxic periodic paralysis
Tibial hemimelia
Tietz syndrome
Tight skin contracture syndrome
Timothy syndrome
Toe syndactyly-telecanthus-anogenital and renal malformations syndrome
Tolchin-le caignec syndrome
Tongue cancer
Tongue disorder
Tongue neoplasms
Tonic-clonic epilepsy
Tonne-kalscheuer syndrome
Tonsil cancer
Tonsillitis
Tooth abnormalities
Tooth agenesis
Tooth and nail syndrome
Tooth disease
Torg-winchester syndrome
Toriello-carey syndrome
Torsades de pointes
Torsion dystonia
Tourette syndrome
Townes-brocks syndrome
Toxic epidermal necrolysis
Toxic nodular goiter
Toxic shock syndrome
Transaldolase deficiency
Transcobalamin deficiency
Transient ischemic attack
Transient myeloproliferative disorder
Transitional cell carcinoma
Transposition of the great arteries
Transthyretin amyloid cardiomyopathy
Treacher collins syndrome
Trehalase deficiency
Tremor
Tremor-ataxia-central hypomyelination syndrome
Trichiasis
Trichilemmal cyst
Tricho-dento-osseous syndrome
Trichohepatoenteric syndrome
Trichohepatoneurodevelopmental syndrome
Trichomegaly
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal syndrome
Trichorrhexis nodosa syndrome
Trichothiodystrophy
Trichotillomania
Trichuriasis
Tricuspid atresia
Tricuspid valve disease
Trident hand
Trifunctional protein deficiency
Trigeminal nerve disease
Trigeminal neuralgia
Trigonitis
Trigonocephaly
Trimethylaminuria
Triokinase and fmn cyclase deficiency
Triose phosphate isomerase deficiency
Triphalangeal thumb-polysyndactyly syndrome
Triple a syndrome
Triple negative breast cancer
Trismus
Trismus-pseudocamptodactyly syndrome
Trisomy
Tritanopia
Tropical calcific pancreatitis
Tropical spastic paraparesis
Troyer syndrome
Truncus arteriosus
Tuberculoma
Tuberous sclerosis complex
Tubular aggregate myopathy
Tubulinopathy
Tubulointerstitial kidney disease
Tumor predisposition syndrome
Tumoral calcinosis
Turcot syndrome
Turner syndrome
Turnpenny-fry syndrome
Turricephaly
Type 2 diabetes nephropathy
Type a insulin resistance syndrome
Type i interferonopathy
Tyrosine hydroxylase deficiency
Tyrosine kinase 2 deficiency
Tyrosinemia
Udp-glucose 4-epimerase deficiency
Udp-glucose-hexose-1-phosphate uridylyltransferase
Uinary system neoplasms
Ulcerative colitis
Ullrich congenital muscular dystrophy
Ulnar-fibular ray defect and brachydactyly
Ulnar-mammary syndrome
Uncombable hair syndrome
Unstable hemoglobin disease
Unverricht-lundborg syndrome
Upper aerodigestive tract neoplasm
Upper extremity deformity, congenital
Upper extremity fracture
Upper respiratory tract disorder
Upshaw-schulman syndrome
Uranostaphyloschisis
Urban-schosser-spohr syndrome
Uremia
Ureteral calculi
Ureteral neoplasms
Ureterolithiasis
Urethral disease
Urethral obstruction
Urethral syndrome
Uric acid urolithiasis
Uridine monophosphate hydrolase deficiency
Uridine-cytidineuria
Urinary bladder calculi
Urinary bladder cancer
Urinary bladder diseases
Urinary bladder dysfunction
Urinary bladder neck obstruction
Urinary bladder neoplasms
Urinary bladder stone
Urinary retention
Urinary system disease
Urinary system neoplasms
Urinary tract infection
Urinary tract obstruction
Urination disorders
Urocanase deficiency
Urocanate hydratase deficiency
Urofacial syndrome
Urogenital abnormalities
Urogenital neoplasms
Urolithiasis
Urologic neoplasms
Urticaria
Urticaria pigmentosa
Uruguay faciocardio-musculoskeletal syndrome
Usher syndrome
Usmani-riazuddin syndrome
Uterine benign neoplasm
Uterine bilocularis
Uterine cancer
Uterine disease
Uterine fibroid
Uterine inflammatory disease
Uterine neoplasm
Uterine neoplasms
Uterine polyp
Uterine prolapse
Uv-sensitive syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Uveal melanoma
Uveitis
Uveomeningoencephalitic syndrome
Vacterl association
Vacterl-hydrocephalus syndrome
Vacuolar myopathy
Vacuolar neuromyopathy
Vaginal neoplasms
Van buchem disease
Van der woude syndrome
Van maldergem syndrome
Vanishing white matter disease
Varicella
Varicose veins
Variegate porphyria
Vascular brain injury
Vascular calcification
Vascular dementia
Vascular disease
Vascular ehlers-danlos syndrome
Vascular leukoencephalopathy
Vascular malformation
Vascular remodeling
Vascular system injury
Vasculitis
Vein of galen aneurysm
Velocardiofacial syndrome
Venous hypertension
Venous insufficiency
Venous malformation
Venous thromboembolism
Venous thrombosis
Ventricular arrhythmia
Ventricular dysfunction
Ventricular ectopy
Ventricular fibrillation
Ventricular hypertrophy
Ventricular outflow obstruction
Ventricular remodeling
Ventricular septal defect
Ventricular tachycardia
Ventriculomegaly with arthrogryposis
Ventriculomegaly with cystic kidney disease
Verheij syndrome
Verloes-bourguignon syndrome
Vertebral anomalies with endocrine and t-cell dysfunction
Vertebral column disorder
Vertebral hypersegmentation with orofacial anomalies
Vertebral, cardiac, renal, and limb defects syndrome
Vertical talus
Ververi-brady syndrome
Very long chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-coa dehydrogenase deficiency
Vesicoureteral reflux
Vesicular stomatitis
Vesiculobullous skin disease
Vestibular disease
Vestibular neuritis
Vexas syndrome
Vibratory urticaria
Vici syndrome
Vipoma
Visceral acid sphingomyelinase deficiency
Visceral amyloidosis
Visceral heterotaxy
Visceral leishmaniasis
Visceral myopathy
Visceral neuropathy
Vissers-bodmer syndrome
Visual disorder
Visual impairment
Vitamin a deficiency
Vitamin b deficiency
Vitamin b12 deficiency
Vitamin b12-unresponsive methylmalonic acidemia
Vitamin d deficiency
Vitamin d dependent rickets
Vitamin deficiency disorder
Vitamin e deficiency
Vitamin k deficiency
Vitelliform macular dystrophy
Vitiligo
Vitreoretinal degeneration
Vitreoretinochoroidopathy
Vitreoretinopathy
Vitreous body disease
Vogt-koyanagi-harada disease
Vohwinkel syndrome
Von hippel-lindau syndrome
Von willebrand disorder
Von zumbuzschs disease
Vulto-van silfhout-de vries syndrome
Vulvar lichen sclerosus
Waardenburg anophthalmia syndrome
Waardenburg syndrome
Waardenburg-shah syndrome
Wagner syndrome
Wagr syndrome
Waisman syndrome
Waldenstrom macroglobulinemia
Walker-warburg syndrome
Wallerian degeneration
Warburg micro syndrome
Warburg-cinotti syndrome
Warfarin sensitivity
Warsaw breakage syndrome
Water intoxication
Watson syndrome
Weaver syndrome
Webb-dattani syndrome
Weber-cockayne syndrome
Weill-marchesani syndrome
Weiss-kruszka syndrome
Welander distal myopathy
Well-differentiated liposarcoma
Werner syndrome
Wernicke encephalopathy
Wernicke-korsakoff syndrome
West syndrome
Weyers acrofacial dysostosis
Wheat allergic reaction
Whim syndrome
Whipple disease
Whispering dysphonia
White blood cell count quantitative trait locus
White spongue nevus
White sutton syndrome
White-kernohan syndrome
Wieacker syndrome
Wieacker-wolff syndrome
Wiedemann-rautenstrauch syndrome
Wiedemann-steiner syndrome
Wild-type transthyretin-related amyloidosis
Williams syndrome
Willis-ekbom disease
Wilms tumor
Wilson disease
Wilson-turner syndrome
Winchester syndrome
Winkelman bethge pfeiffer syndrome
Winter shortland temple syndrome
Wiskott-aldrich syndrome
Witkop syndrome
Witteveen-kolk syndrome
Wolcott-rallison syndrome
Wolf-hirschhorn syndrome
Wolff-parkinson-white syndrome
Wolfram syndrome
Wolfram-like syndrome
Wolman disease
Woodhouse sakati syndrome
Woolly hair
Woolly hair nevus
Woolly hair-palmoplantar keratoderma syndrome
Woolly hair-skin fragility syndrome
Wooly hair
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Worster drought syndrome
Worth syndrome
Wrinkly skin syndrome
X-linked acrogigantism due to xq26 microduplication
X-linked adrenal hypoplasia
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked alpha-thalassemia-intellectual disability syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked cerebral cerebellar coloboma syndrome
X-linked chondrodysplasia punctata
X-linked cleft palate and ankloglossia
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
X-linked combined immunodeficiency diseases
X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency
X-linked complex neurodevelopmental disorder
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia
X-linked cone dysfunction syndrome with myopia
X-linked cone-rod dystrophy
X-linked congenital generalized hypertrichosis
X-linked creatine transporter deficiency
X-linked diffuse leiomyomatosis with alport syndrome
X-linked distal spinal muscular atrophy
X-linked dominant chondrodysplasia chassaing lacombe type
X-linked dominant chondrodysplasia chassaing-lacombe type
X-linked dominant chondrodysplasia punctata
X-linked dominant hypophosphatemic rickets
X-linked dyskeratosis congenita
X-linked dystonia-parkinsonism
X-linked ehlers-danlos syndrome
X-linked emery-dreifuss muscular dystrophy
X-linked epilepsy with learning disability and behavior disorder syndrome
X-linked epilepsy with or without intellectual disability and dysmorphic features
X-linked epilepsy with variable learning disabilities and behavior disorders
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
X-linked hearing loss with perilymphatic gusher
X-linked hereditary motor and sensory neuropathy
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with hearing loss
X-linked hydrocephalus syndrome
X-linked hydrocephalus with stenosis of the aqueduct of sylvius
X-linked hyper-igm syndrome
X-linked hypogammaglobulinemia
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis with steryl-sulfatase deficiency
X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency
X-linked immunodeficiency with magnesium defect
X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia
X-linked intellectual disability
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked keloid scarring syndrome
X-linked lissencephaly
X-linked lymphoproliferative syndrome
X-linked myopathy
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked nephrolithiasis
X-linked non progressive cerebellar ataxia
X-linked nonsyndromic hearing loss
X-linked ocular abinism
X-linked opitz syndrome
X-linked optic atrophy
X-linked osteoporosis
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked reticulate pigmentary disorder
X-linked retinitis pigmentosa
X-linked retinoschisis
X-linked scapuloperoneal muscular dystrophy
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia
X-linked spasticity-intellectual disability-epilepsy syndrome
X-linked spondyloepimetaphyseal dysplasia
X-linked thoracic aortic aneurysm
X-linked thrombocytopenia
X-linked thyroxine-binding globulin deficiency
Xanthinuria
Xanthomatosis
Xerocytosis
Xeroderma
Xeroderma pigmentosum
Xeroderma pigmentosum-cockayne syndrome
Xerosis with immune and pulmonary dysfunction syndrome
Xfe progeroid syndrome
Xgip syndrome
Xia-gibbs syndrome
Xq21 microdeletion syndrome
Xq25 microduplication syndrome
Xq27.3 q28 duplication syndrome
Xx gonadal dysgenesis syndrome
Xy gonadal dysgenesis syndrome
Yao syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yoon-bellen neurodevelopmental syndrome
Yorifuji okuno syndrome
You-hoover-fong syndrome
Young syndrome
Yuksel-vogel-bauer syndrome
Yunis-varon syndrome
Zaki syndrome
Zebra body myopathy
Zellweger spectrum disorder
Zhu-tokita-takenouchi-kim syndrome
Ziegler-huang syndrome
Zika virus syndrome
Zimmermann-laband syndrome
Zinc deficiency
Zunich neuroectodermal syndrome
Zygodactyly
Selected Diseases
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