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Polypharmacological Target Prediction
ⓘ
Diseases
10p12-p11 deletion syndrome
11-beta-hydroxylase deficiency
11p deletion syndrome
11p11.2 deletion syndrome
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q14 deletion syndrome
14q11.2 microduplication syndrome
14q12 microdeletion syndrome
15q11q13 microduplication syndrome
15q13.3 microdeletion syndrome
15q14 deletion syndrome
15q24 microdeletion syndrome
15q26-qter deletion syndrome
16p13.2 deletion syndrome
16q24.3 microdeletion syndrome
17 deletion
17,20-lyase deficiency
17-hydroxysteroid dehydrogenase deficiency
17p11.2 microduplication syndrome
17p13.3 duplication syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
17q12 deletion syndrome
17q21.31 deletion syndrome
17q23.1-q23.2 deletion syndrome
17q23.1-q23.2 duplication syndrome
17q24.2 microdeletion syndrome
19p13.3 microduplication syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p36 deletion syndrome
1q44 microdeletion syndrome
2,4-dienoyl-coa reductase deficiency
2,8-dihydroxyadenine urolithiasis
2-methylbutyryl-coa dehydrogenase deficiency
20p12.3 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11 deletion syndrome
22q11 partial monosomy syndrome
22q11.2 deletion syndrome
22q11.2 duplication syndrome
22q13.3 deletion syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q24 microdeletion syndrome
2q32-q33 deletion syndrome
2q33.1 microdeletion syndrome
2q37 deletion syndrome
3 beta-hydroxysteroid dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-coa synthase deficiency
3-hydroxyacyl-coa dehydrogenase deficiency
3-methylcrotonyl coa carboxylase deficiency
3-methylglutaconic aciduria
3-methylglutaconic aciduria with sensorineural deafness, encephalopathy and leigh-like syndrome
3-phosphoglycerate dehydrogenase deficiency
3-phosphoserine phosphatase deficiency
3c syndrome
3m syndrome
3mc syndrome
46, xx disorders of sex development
46, xx gonadal dysgenesis
46, xx gonadal sex reversal
46, xx ovarian dysgenesis-short stature syndrome
46, xx ovotesticular disorder of sex development
46, xy complete gonadal dysgenesis
46, xy disorder of sex development
46, xy disorder of sex development-adrenal insufficiency
46, xy gonadal dysgenesis
46, xy gonadal dysgenesis, with minifascicular neuropathy
46, xy gonadal dysgenesis-motor and sensory neuropathy syndrome
46, xy partial gonadal dysgenesis
46, xy sex reversal
46,xx gonadal dysgenesis
46,xy disorder of sex development
46,xy true hermaphroditism
4p partial monosomy syndrome
5-alpha reductase deficiency
5-oxoprolinase deficiency
5p partial monosomy syndrome
5p13 duplication syndrome
5q-syndrome
5q14.3 microdeletion syndrome
5q35 microduplication syndrome
6 alpha mercaptopurine sensitivity
6-pyruvoyl-tetrahydropterin synthase deficiency
6q terminal deletion syndrome
6q16 microdeletion syndrome
6q24-q25 deletion syndrome
6q25 microdeletion syndrome
7-dehydrocholesterol reductase deficiency
7q31 microdeletion syndrome
8p11 myeloproliferative syndrome
8p11.2 deletion syndrome
8p23.1 microdeletion syndrome
8q24.3 microdeletion syndrome
9q22.3 microdeletion
9q33.3q34.11 microdeletion syndrome
Aa amyloidosis
Aapoai amyloidosis
Aapoaii amyloidosis
Aarskog syndrome
Aarskog-scott syndrome
Aase-smith syndrome
Abcd syndrome
Abdominal aortic aneurysm
Abdominal migraine
Abducens palsy
Abetalipoproteinemia
Ablepharon
Ablepharon macrostomia syndrome
Abnormal dermatoglyphic pattern
Abnormal involuntary movement
Abnormal male sexual function
Abnormal spinal segmentation
Abortive cerebellar ataxia
Abruzzo-erickson syndrome
Absence of septum pellucidum
Absence of tibia with polydactyly
Absence seizure
Absent antitragus
Absent eyebrow
Absent lacrimal punctum
Absent mastoid
Absent penis
Absent pigmentation of the ventral chest
Absent uvula
Absent vas deferens
Abulia
Acampomelic campomelic dysplasia
Acantholytic dyskeratotic epidermal nevus
Acanthosis nigricans
Acatalasia
Accessory carpal bones
Accessory kidney
Accessory nipple
Accessory rib
Acephalic spermatozoa
Aceruloplasminemia
Acetyl-coa carboxylase deficiency
Achalasia
Acheiropodia
Achondrogenesis
Achondroplasia
Achondroplasia with developmental delay and acanthosis nigricans
Achoo syndrome
Achromatopsia
Achromatopsia incomplete, x-linked
Acid phosphatase deficiency
Acne
Acne inversa
Acne inversa with or without dowling-degos disease
Acoustic neuroma
Acquired clubfoot
Acquired kyphoscoliosis
Acquired neuromyotonia
Acquired partial lipodystrophy
Acquired porencephaly
Acral dystrophic epidermolysis bullosa
Acral lentiginous malignant melanoma
Acral peeling skin syndrome
Acral self-healing collodion baby
Acrania
Acrobrachycephaly
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocephalopolydactyly
Acrocephaly
Acrodermatitis continua of hallopeau
Acrodermatitis enteropathica
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acrodysostosis with or without hormone resistance
Acroerythrokeratoderma
Acrofacial dysostosis
Acrogeria
Acrokeratosis
Acrokeratosis verruciforms
Acromegaloid facial appearance syndrome
Acromegaly
Acromelia
Acromelic frontonasal dysostosis
Acromesomelic dysplasia
Acromicria
Acromicric dysplasia
Acroosteolysis
Acropectorovertebral dysplasia
Acrosteolysis
Acth deficiency
Acth-independent macronodular adrenal hyperplasia
Actinic keratosis
Action myoclonus-renal failure syndrome
Activated pi3k-delta syndrome
Activated protein c resistance
Actn3 deficiency
Acute kidney insufficiency
Acute myeloid leukemia
Acyl coa dehydrogenase deficiency
Adactyly
Adamantinous craniopharyngioma
Adams-oliver syndrome
Adan amyloidosis
Addison`s disease
Adducted thumbs syndrome
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma
Adenocarcinoma of colon
Adenocarcinoma of duodenum
Adenocarcinoma of ovary
Adenocarcinoma of rectum
Adenoma
Adenoma sebaceum
Adenomatous polyposis
Adenosine deaminase deficiency
Adenosine monophosphate deaminase deficiency
Adenylate kinase deficiency, hemolytic anemia
Adenylosuccinate lyase deficiency
Adenylosuccinate synthetase-like distal myopathy
Adiponectin deficiency
Adjustment disorders
Adjustment sleep disorder
Adnp syndrome
Adrenal calcification
Adrenal cancer
Adrenal cortex diseases
Adrenal cortical hypofunction
Adrenal gland agenesis
Adrenal gland diseases
Adrenal gland pheochromocytoma
Adrenal hyperplasia
Adrenal hyperplasia, congenital
Adrenal hypoplasia, x-linked
Adrenal insufficiency
Adrenal insufficiency, congenital, with 46 xy sex reversal
Adrenal neoplasia
Adrenocortical adenoma
Adrenocortical carcinoma
Adrenocortical tumor
Adrenocorticotropic hormone deficiency
Adrenocorticotropin deficient adrenal insufficiency
Adrenogenital syndrome
Adrenoleukodystrophy
Adrenomyeloneuropathy
Adult syndrome
Advanced sleep phase syndrome
Affective psychosis
Afibrinogenemia
African burkitt`s lymphoma
Agammaglobulinemia
Agammaglobulinemia with growth hormone deficiency, x-linked
Agammaglobulinemia, x-linked
Age-related macular degeneration
Age-related memory disorders
Agenesis of corpus callosum
Agenesis of gallbladder
Agenesis of pulmonary artery
Agenesis of the diaphragm
Aggressive periodontitis
Aging syndrome
Aglossia
Agnathia-holoprosencephaly-situs inversus syndrome
Agnosia
Agonadism
Agoraphobia
Agranulocytosis
Agraphesthesia
Agyria
Aicar transformylase/imp cyclohydrolase deficiency
Aicardi goutieres syndrome
Akinesia
Akinetic mutism
Akinetic petit mal
Akinetic-rigid variant of huntington disease
Al awadi syndrome
Al kaissi syndrome
Al-raqad syndrome
Alacrima
Alacrima, achalasia, and mental retardation syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Alagille syndrome
Alazami syndrome
Alazami-yuan syndrome
Albers-schonberg osteopetrosis
Albinism
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albright`s hereditary osteodystrophy
Alcoholic fatty liver
Alcoholic liver cirrhosis
Aldosterone-producing adrenal cortex adenoma
Aldosteronism, seizures, and neurologic abnormalities
Alexander disease
Alexia
Alkaline ceramidase deficiency
Alkaptonuria
Alkuraya-kucinskas syndrome
Allan-herndon-dudley syndrome
Allanson pantzar mcleod syndrome
Allergic rhinitis
Allergic sensitization
Alloimmune neutropenia
Alloimmune thrombocytopenia
Alloimmunisation
Alobar holoprosencephaly
Alopecia
Alopecia areata
Alopecia universalis congenita
Alopecia, male pattern
Alopecia, neurologic defects, and endocrinopathy syndrome
Alopecia-mental retardation syndrome
Alpers syndrome
Alpers-huttenlocher syndrome
Alpha 1-antitrypsin deficiency
Alpha thalassemia
Alpha-1-antichymotrypsin deficiency
Alpha-2-macroglobulin deficiency
Alpha-2-plasmin inhibitor deficiency
Alpha-aminoadipic semialdehyde deficiency disease
Alpha-b crystallinopathy
Alpha-dystroglycanopathy
Alpha-fetoprotein deficiency
Alpha-mannosidosis
Alpha-methylacyl-coa racemase deficiency
Alpha-n-acetylgalactosaminidase deficiency
Alpha-sarcoglycan muscular dystrophy
Alpha-thalassemia mental retardation syndrome
Alpha-thalassemia mental retardation syndrome, x-linked
Alpha-thalassemia myelodysplasia syndrome
Alpha-thalassemia-myelodysplastic syndrome
Alphalipoproteinemia neuropathy
Alport syndrome
Alport syndrome, x-linked
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Alstrom syndrome
Alternating esotropia
Alternating exotropia
Alternating hemiplegia
Alveolar capillary dysplasia
Alveolar proteinosis
Alveolar rhabdomyosarcoma
Alveolar ridge abnormality
Alveolar sarcoma
Alveolitis
Alys amyloidosis
Alzheimer disease
Alzheimer disease, with spastic paraparesis and apraxia
Alzheimer-like prion disease
Amastia
Amaurosis
Amaurosis-hypertrichosis syndrome
Amaurotic idiocy
Ambiguous genitalia
Amegakaryocytic thrombocytopenia
Amelia
Ameloblastoma
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta
Amelogenesis imperfecta with taurodontism
Amelogenesis imperfecta, x-linked
Ametropia
Ametropic amblyopia
Aminoacylase deficiency
Amish brittle hair brain syndrome
Amme complex
Amnesia
Amniotic bands
Ampullary carcinoma
Amygdalo-hippocampal epilepsy
Amyloid angiopathy
Amyloid cardiomyopathy
Amyloid cranial neuropathy with lattice corneal dystrophy
Amyloid nephropathy
Amyloid neuropathy
Amyloid polyneuropathy
Amyloidogenic transthyretin amyloidosis
Amyloidosis
Amyloidosis cutis dyschromia
Amyloidosis of peripheral nerves
Amyloidosis, leptomeningeal, transthyretin-related
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis with dementia
Amyotrophic lateral sclerosis, with or without frontotemporal dementia
Amyotrophy
Anal canal carcinoma
Anal cancer
Anal fistula
Anaplasia
Anaplastic astrocytoma
Anaplastic carcinoma
Anaplastic ependymoma
Anaplastic lymphoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anaplastic thyroid cancer
Anarthria speech disorder
Anauxetic dysplasia
Andersen syndrome
Andersen tawil syndrome
Androgen-insensitivity syndrome
Androgenetic alopecia
Anemia
Anemia and spinocerebellar ataxia
Anemia with ringed sideroblasts
Anencephaly
Anetoderma
Aneurysm of aortic arch
Aneurysm-osteoarthritis syndrome
Angelman syndrome
Angioblastic meningioma
Angioblastoma
Angiocentric glioma
Angioedema
Angioendotheliomatosis
Angiofibroma
Angioid streaks
Angioimmunoblastic t-cell lymphoma
Angiokeratoma
Angiolipoma
Angiolymphoid hyperplasia
Angioma
Angiomatous meningioma
Angiomyolipoma of kidney
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Angle closure glaucoma
Angular cheilitis
Anhaptoglobinemia
Anhedonia
Anhidrosis
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Anhydramnios
Aniridia
Aniridia, cerebellar ataxia, and mental retardation
Anisometropia
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloglossia
Ankylosing spondylitis
Ankylosis of feet small joints
Annular pancreas
Anodontia
Anomalous pulmonary artery
Anomalous pulmonary venous return
Anomia
Anonychia
Anonychia congenita totalis
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anorexia
Anotia
Anoxic-ischemic encephalopathy
Antenatal bartter syndrome
Anterior compartment syndrome
Anterior horn cell disease
Anterior ischemic optic neuropathy
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Anterior pituitary dysgenesis
Anterior segment anomalies
Anterior segment dysgenesis
Anthracosis
Anti-d isoimmunization affecting pregnancy
Anti-plasmin deficiency, congenital
Antibody deficiency and immune dysregulation
Antibody deficiency syndrome
Antiphospholipid syndrome
Antisocial personality disorder
Antithrombin deficiency
Antley-bixler syndrome
Antley-bixler syndrome with genital anomalies and disordered steroidogenesis
Anus neoplasms
Anxiety disorder
Aortic aneurysm
Aortic coarctation
Aortic diseases
Aortic dissection
Aortic rupture
Aortic valve calcification
Aortic valve disease
Aortic valve insufficiency
Aortic valve sclerosis
Aortitis syndrome
Apert syndrome
Apert-crouzon disease
Aphasia
Aphthous ulcer
Aplasia and myelodysplasia
Aplasia cutis congenita
Aplasia of lacrimal and salivary glands
Aplasia of muscle
Aplasia of the epiglottis
Aplasia of the ovary
Aplasia of the thymus
Aplastic anemia
Apnea
Apoceruloplasmin deficiency
Apocrine adenoma
Apocrine cystadenoma
Apolipoprotein a1 deficiency
Apolipoprotein a5 deficiency
Apolipoprotein b deficiency
Apolipoprotein c2 deficiency
Apparent mineralocorticoid excess
Appendicitis
Apraxia
Aprosencephaly
Aprt deficiency
Aquagenic palmoplantar keratoderma
Aqueductal stenosis
Arachnodactyly
Arachnoid cyst
Arakawa syndrome
Arcus senilis
Argentaffinoma
Arginine-glycine amidinotransferase deficiency
Argininemia
Argininosuccinic acid synthetase deficiency disease
Arima syndrome
Arnold-chiari malformation
Aromatase deficiency
Aromatase excess syndrome
Aromatic amino acid decarboxylase deficiency
Arrhinencephaly
Arrhinia
Arrhinia with choanal atresia and microphthalmia syndrome
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy with or without mild palmoplantar keratoderma
Arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair
Arsenic encephalopathy
Arterial calcification
Arterial intimal fibrosis
Arterial occlusive disease
Arterial tortuosity syndrome
Arteriohepatic dysplasia
Arteriopathy-strokes-leukoencephalopathy
Arteriosclerosis
Arteriosclerotic dementia
Arthralgia/arthritis
Arthritis
Arthrochalasia ehlers-danlos syndrome
Arthrocutaneouveal granulomatosis
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita, neurogenic, with myelin defect
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arthrogryposis, mental retardation, and seizures
Arthrogryposis, perthes disease, and upward gaze palsy
Arthrogryposis, renal dysfunction, and cholestasis
Arthrogryposis, with impaired proprioception and touch
Arthrogryposis-anterior horn cell disease syndrome
Arthrogryposis-like hand anomaly
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthropathy
Arts syndrome
Arylsulfatase a deficiency
As if personality
Asbestosis
Ascending colon cancer
Aseptic necrosis
Asparagine synthetase deficiency
Aspartylglucosaminuria
Asperger syndrome
Asphyxiating thoracic dystrophy
Asplenia
Asteroid hyalosis
Asthenozoospermia
Asthma
Astigmatism
Astrocytoma
Asymmetric crying face association
Asymmetric diabetic proximal motor neuropathy
Asymptomatic inflammatory prostatitis
Ataxia
Ataxia and polyneuropathy
Ataxia neuropathy spectrum disorder
Ataxia telangiectasia
Ataxia with lactic acidosis
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Ataxia, spastic with optic atrophy and mental retardation
Ataxia-deafness syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Ataxia-oculomotor apraxia
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia-like disorder
Atelosteogenesis
Athabaskan brainstem dysgenesis syndrome
Atheroeruptive xanthoma
Atheromatous embolus
Atherosclerosis
Atherosclerotic lesion
Atherosclerotic parkinsonism
Athetoid cerebral palsy
Atkin-flaitz syndrome
Atlantoaxial abnormality
Atopic ige-mediated allergic disorder
Atresia of nasolacrimal duct
Atresia of vagina
Atrial and intestinal dysrhythmia
Atrial cardiomyopathy
Atrial enlargement
Atrial fibrillation
Atrial isomerism
Atrial myxoma
Atrial septal defect
Atrial septal defect with atrioventricular conduction defects
Atrial standstill
Atrial tachyarrhythmia-infra-hisian cardiac conduction disease
Atrichia
Atrichia with papular lesions
Atrioventricular block
Atrioventricular septal defect
Atrioventricular septal defect, partial, with heterotaxy syndrome
Atrophoderma vermiculata
Atrophy
Atrophy of corpus callosum
Atrophy of kidney
Atrophy of the spinal cord
Attention deficit hyperactivity disorder
Attrv122i amyloidosis
Atypical mole melanoma syndrome
Au-kline syndrome
Auditory neuropathy
Auditory neuropathy-optic atrophy syndrome
Auditory processing disorder
Aural atresia, congenital
Auriculocondylar syndrome
Autism
Autism spectrum disorder
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autism, x-linked
Autism-epilepsy syndrome
Autistic spectrum disorder with isolated skills
Autoimmune diabetes
Autoimmune diseases
Autoimmune hemolytic anemia
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Autoimmune hepatitis
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune interstitial lung, joint, and kidney disease
Autoimmune leukoproliferative disorder
Autoimmune lymphoproliferative disorder
Autoimmune nervous system disorder
Autoimmune polyendocrinopathy
Autoimmune polyendocrinopathy syndrome, with reversible metaphyseal dysplasia
Autoimmune thyroiditis
Autoinflammation with arthritis and dyskeratosis
Autoinflammation with enterocolitis
Autoinflammation, antibody deficiency, and immune dysregulation
Autoinflammation, panniculitis, and dermatosis syndrome
Autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Autoinflammatory disease
Autonomic central nervous system diseases
Autosomal chromosome disorders
Av nodal reentry tachycardia
Avascular necrosis of femoral head
Avascular necrosis of the capital femoral epiphysis
Avellino corneal dystrophy
Axenfeld anomaly
Axial malrotation of the kidney
Axonal neuropathy
Axonal neuropathy with neuromyotonia
Ayme-gripp syndrome
Azoospermia
Azotemia
B lymphoblastic leukemia lymphoma
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); tel-aml1 (etv6-runx1)
B lymphoblastic leukemia/lymphoma
B lymphoblastic leukemia/lymphoma with t(v;11q23.3); kmt2a rearranged
B-cell expansion with nfkb and t-cell anergy
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
B-cell lymphocytosis
B-cell lymphoma
B-cell neoplasm
Bainbridge-ropers syndrome
Baker-gordon syndrome
Balkan nephropathy
Baller-gerold syndrome
Ballismus
Balo`s concentric sclerosis
Bamforth-lazarus syndrome
Band heterotopia
Band heterotopia of brain
Bannayan-riley-ruvalcaba syndrome
Baraitser-winter syndrome
Barber say syndrome
Bardet-biedl syndrome
Bare lymphocyte syndrome
Barrett epithelium
Barrett esophagus
Barth syndrome
Bartsocas-papas syndrome
Bartter syndrome
Bartter syndrome with hypocalciuria
Bartter syndrome with sensorineural deafness
Basal cell neoplasm
Basal encephalocele
Basal ganglia calcification
Basal ganglia cysts
Basal ganglia degeneration syndrome
Basal ganglia diseases
Basal laminar drusen
Basan syndrome
Basaran yilmaz syndrome
Basel-vanagaite-smirin-yosef syndrome
Basilar invagination
Basophilic leukemia
Becker muscular dystrophy
Becker nevus syndrome
Beckwith-wiedemann syndrome
Behavior disorders
Behavioral abnormality
Behavioral variant of frontotemporal dementia
Behcet syndrome
Benign chorea with striatal involvement
Benign digestive system neoplasms
Benign epilepsy
Benign essential blepharospasm
Benign fasciculation-cramp syndrome
Benign fibrous histiocytoma
Benign flecked retina
Benign genitourinary tract neoplasm
Benign hematuria
Benign hereditary chorea
Benign hypophosphatasia
Benign intrahepatic cholestasis
Benign meningioma
Benign mesial temporal lobe epilepsy
Benign myoclonic epilepsy
Benign neoplasm
Benign neoplasm of bladder
Benign neoplasm of esophagus
Benign neoplasm of nervous system
Benign neoplasm of stomach
Benign neoplasm of testis
Benign occipital epilepsy
Benign paroxysmal torticollis
Benign pemphigus
Benign prostatic hyperplasia
Benign rolandic epilepsy
Benign samaritan congenital myopathy
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Benign seizures
Benign seizures and/or myokomia
Benign supratentorial neoplasm
Benign tumor of pancreas
Bent bone dysplasia
Berdon syndrome
Berger disease
Bernard soulier syndrome
Bestrophinopathy
Beta thalassemia
Beta-galactosidase deficiency
Beta-hydroxyisobutyryl coa deacylase deficiency
Beta-ketothiolase deficiency
Beta-mannosidosis
Beta-propeller protein-associated neurodegeneration
Beta-thalassemia-thrombocytopenia syndrome, x-linked
Beta-ureidopropionase deficiency
Bethlem myopathy
Bicuspid aortic valve
Bietti crystalline dystrophy
Bifid nose with or without anorectal and renal anomalies
Bifunctional enzyme deficiency
Bilateral arterial duct
Bilateral convulsive seizures
Bilateral fetal pyelectasis
Bilateral frontoparietal polymicrogyria
Bilateral hypermetropia
Bilateral malignant neoplasm
Bilateral microtia-deafness-cleft palate syndrome
Bilateral multicystic dysplastic kidney
Bilateral occipital polymicrogyria
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral renal dysplasia
Bilateral renal hypoplasia
Bilateral striopallidodentate calcinosis
Bilateral vestibulopathy
Bile acid coa ligase deficiency and defective amidation
Bile acid malabsorption
Bile acid synthesis defect
Bile duct carcinoma
Bile duct diseases
Bile duct neoplasms
Biliary atresia
Biliary atresia with splenic malformation syndrome
Biliary cholangitis
Biliary cirrhosis
Biliary hyperplasia
Biliary tract cancer
Biliary tract neoplasm
Binswanger disease
Biotinidase deficiency
Bipolar disorder
Birbeck granule deficiency
Birdshot chorioretinopathy
Birk-barel syndrome
Birk-landau-perez syndrome
Birt-hogg-dube syndrome
Biventricular hypertrophy
Bjornstad syndrome
Blackfan-diamond anemia
Bladder cancer
Bladder carcinoma
Bladder diverticulum
Bladder exstrophy
Bladder exstrophy and epispadias complex
Bladder neck obstruction
Bladder neoplasm
Bladder polyp
Blast phase chronic myelogenous leukemia
Blau syndrome
Bleeding disorder
Blepharochalasis
Blepharocheilodontic syndrome
Blepharophimosis
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome with duane retraction syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome with ovarian failure
Blepharophimosis, ptosis, and epicanthus inversus syndrome without ovarian failure
Blepharophimosis-mental retardation syndrome
Blepharospasm
Blind vagina
Blindness
Blomstrand lethal chondrodysplasia
Blood coagulation disorders
Bloom syndrome
Blue cone monochromacy
Blue nevus
Blue rubber bleb nevus
Bnar syndrome
Body skin hyperlaxity
Boerhaave syndrome
Bohring-opitz syndrome
Bone disease
Bone fragility with contractures, arterial rupture, and deafness
Bone marrow diseases
Bone marrow failure syndrome
Bone marrow neoplasms
Bone neoplasms
Boomerang dysplasia
Bor syndrome
Borderline personality disorder
Borjeson-forssman-lehmann syndrome
Bornholm eye disease
Borrone di rocco crovato syndrome
Bosley-salih-alorainy syndrome
Bothnia retinal dystrophy
Bowel diverticulosis
Bowel incontinence
Bowen-conradi syndrome
Bowen`s disease
Brachial plexus neuralgia
Brachial plexus neuropathy
Brachioskeletogenital syndrome
Brachycephaly
Brachydactyly
Brachydactyly with joint dysplasia
Brachydactyly-arterial hypertension syndrome
Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-short stature-retinitis pigmentosa syndrome
Brachydactyly-syndactyly syndrome
Brachydactyly-syndactyly-oligodactyly syndrome
Brachyolmia
Brachyolmia-amelogenesis imperfecta syndrome
Brachytelephalangic chondrodysplasia punctata
Bradyarrhythmia
Bradyopsia
Brain abscess
Brain aneurysm
Brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear-eye anomalies, cleft palate-cryptorchidism, and kidney dysplasia-hypoplasia
Brain atrophy
Brain calcification
Brain demyelination
Brain diseases
Brain dopamine-serotonin vesicular transport disease
Brain glioma
Brain infarction
Brain malformation
Brain malformations with or without urinary tract defects
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Brain neoplasms
Brain small vessel disease with axenfeld-rieger anomaly
Brain small vessel disease with hemorrhage
Brain small vessel disease with or without ocular anomalies
Brain stem compression
Brain stem glioma
Brain stem neoplasms
Brain-lung-thyroid syndrome
Brain-tumor-polyposis syndrome
Brainstem atrophy
Branched-chain keto acid dehydrogenase kinase deficiency
Branchial anomaly
Branchial clefts-congenital disorder
Branchioma
Branchiooculofacial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Branchioskeletogenital syndrome
Breast adenocarcinoma
Breast aplasia
Breast cancer
Breast carcinoma
Breast carcinoma, male
Breast diseases
Breast hyperplasia
Breast hypoplasia
Bresek syndrome
Bright disease
Brittle cornea syndrome
Brittle diabetes mellitus
Broca aphasia
Brody myopathy
Bronchial diseases
Bronchial hyperreactivity
Bronchiectasis
Bronchiolitis
Bronchiolitis obliterans
Bronchitis
Bronchomalacia
Bronchopulmonary disease
Bronchopulmonary dysplasia
Bronchospasm
Brooke-spiegler syndrome
Brown oculocutaneous albinism
Brown-vialetto-van laere syndrome
Bruck syndrome
Brugada syndrome
Brunner syndrome
Budd-chiari syndrome
Bulbar palsy
Bulbospinal atrophy, x-linked
Bulbospinal neuronopathy
Bulbospinal neuronopathy, x-linked
Bulimia
Bullous cutaneous mastocytosis
Bullous pemphigoid
Bull`s eye macular dystrophy
Bundle branch block
Burkitt`s lymphoma
Burn-mckeown syndrome
Bursitis
Buruli ulcer
Buschke-ollendorff syndrome
Butyrylcholinesterase deficiency
C syndrome
C1 inhibitor deficiency
C1q deficiency
C3 deficiency
C3 glomerulonephritis
C3 glomerulopathy
C9 deficiency
Cach syndrome
Cacosmia
Cadasil syndrome
Cafe-au-lait macules with pulmonary stenosis
Cafe-au-lait spot
Caffey disease
Calcification of falx cerebri
Calcification of joints and arteries
Calcification of trachea
Calcifying leukoencephalopathy-skeletal dysplasia
Calcinosis cutis
Calcium metabolism disorders
Calcium pyrophosphate deposition
Camos syndrome
Campomelic dysplasia
Campomelic dysplasia with autosomal sex reversal
Camptocormia
Camptodactyly
Camptodactyly of fingers
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptosynpolydactyly
Camurati-engelmann disease
Canavan disease
Cancer
Cap myopathy
Capillary hemangioma
Capillary hemangioma of retina
Capillary malformation
Capillary malformation without arteriovenous malformation
Capillary malformation-arteriovenous malformation
Capos syndrome
Capsular cataract
Carbamoyl phosphate synthase deficiency
Carbonic anhydrase va deficiency
Carcinoid syndrome
Carcinoid tumor of intestine
Carcinoid tumor of lung
Carcinoma
Carcinoma of the head and neck
Carcinoma of lip
Carcinoma of the nasal cavity and paranasal sinuses
Carcinoma of the oral cavity
Carcinoma of vulva
Carcinoma, somatic
Carcinosarcoma
Cardiac arrhythmia
Cardiac arrhythmia with increased serum creatinine kinase
Cardiac conduction disease
Cardiac conduction disease with or without dilated cardiomyopathy
Cardiac defects
Cardiac diverticulum
Cardiac embolism
Cardiac fibroma
Cardiac hypoplasia
Cardiac neoplasms
Cardiac rhabdomyoma
Cardiac tamponade
Cardiac valvular disease
Cardiac valvular dysplasia , x-linked
Cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
Cardiacvalvular ehlers-danlos syndrome
Cardiocutaneous progeria syndrome
Cardioembolic stroke
Cardioencephalomyopathy
Cardiofaciocutaneous syndrome
Cardiomyopathic mitochondrial dna depletion syndrome
Cardiomyopathy
Cardiomyopathy, apical hypertrophic and neuropathy
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Cardiopulmonary failure
Cardiospondylocarpofacial syndrome
Cardiovascular abnormalities
Cardiovascular diseases
Carditis
Carey fineman ziter syndrome
Carney complex
Carney complex variant
Carney triad
Carney-stratakis syndrome
Carnitine palmitoyl transferase deficiency
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Caroli disease
Carotid artery disease
Carotid artery stenosis
Carotid artery thrombosis
Carotid atherosclerosis
Carotid body paraganglioma
Carotid intimal medial thickness
Carpal synostosis
Carpal tunnel syndrome
Carpenter syndrome
Cartilage diseases
Cartilage-hair hypoplasia
Carvajal syndrome
Cat eye syndrome
Catalepsy
Cataplexy
Cataract
Cataract with microcornea and glucosuria
Cataract with microphthalmia and neurodevelopmental abnormalities
Cataract-glaucoma syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cataract-microcornea syndrome
Cataract-microcornea-renal glucosuria syndrome
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Catatonia
Catecholaminergic polymorphic ventricular tachycardia
Catel manzke syndrome
Caudal duplication anomaly
Caudal regression sequence
Cavernous angioma, central nervous system
Cavernous hemangioma
Cavernous hemangioma of retina
Cavernous sinus meningioma
Cavitary optic disc anomalies
Cavitation of the basal ganglia
Cd45 deficiency
Cd59 deficiency
Cd8 deficiency
Cecal neoplasm
Cecum cancer
Cednik syndrome
Celiac disease
Cenani-lenz syndrome
Central areolar choroidal dystrophy
Central areolar choroidal sclerosis
Central centrifugal cicatricial alopecia
Central congenital hypothyroidism with testicular enlargement, x-linked
Central core disease
Central hypothyroidism
Central nervous system demyelination
Central nervous system germinoma
Central nervous system inborn metabolic diseases
Central nervous system lupus
Central nervous system lymphoma
Central nervous system metabolic disorders
Central nervous system neoplasms
Central precocious puberty
Central visual impairment
Centripetalis dystrophic epidermolysis bullosa
Centronuclear myopathy
Centronuclear myopathy with fiber-type disproportion
Centronuclear myopathy, x-linked
Cerebellar agenesis
Cerebellar ataxia
Cerebellar ataxia with mental retardation
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with spasticity
Cerebellar ataxia, deafness and narcolepsy
Cerebellar ataxia, epilepsy, mental retardation
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome
Cerebellar ataxia, x-linked
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-hypogonadism syndrome
Cerebellar ataxia-psychomotor delay syndrome
Cerebellar atrophy
Cerebellar atrophy, developmental delay, and seizures
Cerebellar atrophy, visual impairment, and psychomotor retardation
Cerebellar cortical atrophy
Cerebellar degenerations
Cerebellar diseases
Cerebellar edema
Cerebellar granule cell hypertrophy and megalencephaly
Cerebellar hemangioblastoma
Cerebellar hypoplasia
Cerebellar medulloblastoma
Cerebellar vermis agenesis
Cerebellar-facial-dental syndrome
Cerebellar-retinal degeneration
Cerebellofaciodental syndrome
Cerebelloparenchymal disorder
Cerebral adrenoleukodystrophy, x-linked
Cerebral amyloid angiopathy
Cerebral and cerebellar atrophy with progressive microcephaly
Cerebral aneurysm
Cerebral angiitis
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy and migraine
Cerebral arteriovenous malformation
Cerebral artery aneurysm
Cerebral artery atherosclerosis
Cerebral artery stenosis
Cerebral atrophy
Cerebral cavernous hemangioma
Cerebral cavernous malformation
Cerebral convexity meningioma
Cerebral cortex myoclonus
Cerebral cortical atrophy
Cerebral cortical hemiatrophy
Cerebral embolism and thrombosis
Cerebral folate transport deficiency
Cerebral hemorrhage
Cerebral hypomyelination
Cerebral hypoxia-ischemia
Cerebral infarction
Cerebral infraction
Cerebral ischemia
Cerebral microangiopathy
Cerebral palsy
Cerebral palsy, diplegic
Cerebral primitive neuroectodermal tumor
Cerebral saccular aneurysm
Cerebral sinovenous thrombosis
Cerebral small vessel disease
Cerebral thrombosis
Cerebral thrombus
Cerebral vasospasm
Cerebral, cerebellar, coloboma syndrome, x-linked
Cerebrocostomandibular syndrome
Cerebrocostomandibular-like syndrome
Cerebrofacioarticular syndrome
Cerebrofaciothoracic dysplasia
Cerebrooculofacioskeletal syndrome
Cerebroretinal microangiopathy with calcifications and cysts
Cerebroretinal vasculopathy
Cerebrotendinous xanthomatosis
Cerebrovascular disorders
Cerebrovascular insufficiency
Cerebrovascular occlusion
Ceroid lipofuscinosis neuronal
Ceruloplasmin deficiency
Cervical cancer
Cervical dystonia
Cervical intraepithelial neoplasia
Cervical lymphadenopathy
Cervical myelopathy
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervical spinal cord atrophy
Cervical spine instability
Cervical spondylosis
Cervical tumor
Cervical vertebral dysplasia
Cervicobrachial neuralgia
Cervicothoracic spina bifida
Cervix carcinoma
Chagas cardiomyopathy
Chamber synechiae
Chand syndrome
Chandler syndrome
Char syndrome
Charcot-marie-tooth disease
Charcot-marie-tooth disease with giant axons
Charcot-marie-tooth disease with glaucoma
Charcot-marie-tooth disease with hoarseness
Charcot-marie-tooth disease, x-linked
Charge syndrome
Chediak-higashi syndrome
Chediak-steinbrinck-higashi syndrome
Cheilitis
Cherubism
Chiari malformation
Chilblain lesions
Chilblain lupus erythematosus
Child syndrome
Childhood obesity
Chime syndrome
Chitayat syndrome
Choanal atresia
Choanal atresia and lymphedema
Cholangiocarcinoma
Cholangitis
Cholecystitis
Cholecystolithiasis
Choledochal cyst
Choledocholithiasis
Cholelithiasis
Cholestanol storage disease
Cholestasis
Cholestasis of pregnancy
Cholestatic liver disease
Cholesteatoma
Cholesterol ester storage disease
Cholesterol gallstones
Cholesterol-ester transfer protein deficiency
Chondroblastoma
Chondrocalcinosis
Chondrodysplasia punctata
Chondrodysplasia punctata x-linked
Chondrodysplasia with joint dislocations
Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Chondrodysplasia, x-linked
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Chondrodystrophic myotonia
Chondroma
Chondromalacia
Chondromyxoid fibroma
Chondrosarcoma
Chops syndrome
Chordoma
Chorea
Chorea with psychomotor retardation
Choreoacanthocytosis
Choreoathetosis
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Chorioangioma
Choriocarcinoma
Chorioretinal atrophy
Chorioretinal dystrophy
Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
Chorioretinitis
Chorioretinopathy-microcephaly syndrome
Choroid plexus carcinoma
Choroid plexus papilloma
Choroidal dystrophy
Choroidal melanoma
Choroidal sclerosis
Choroideremia
Christianson syndrome
Chromophobe carcinoma
Chromosome 16p11.2 deletion syndrome
Chromosome 19q13.11 deletion syndrome
Chromosome 22q11.2 deletion syndrome
Chromosome 2p16.3 deletion syndrome
Chromosome 8q24.3 deletion syndrome
Chromosome deletion
Chromosome instability syndromes
Chronic obstructive pulmonary disease
Chronobiology disorders
Chudley-mccullough syndrome
Chuvash erythrocytosis
Chylomicron retention disease
Chylopericardium
Cicatricial ectropion
Ciliary body coloboma
Ciliary body melanoma
Ciliary dyskinesia
Ciliary dyskinesia, with or without situs inversus
Ciliary dyskinesia, with situs inversus
Ciliary dyskinesia, x-linked
Ciliary dyskinesia-retinitis pigmentosa syndrome
Ciliopathies
Cinca syndrome
Circadian rhythm disorders
Cirrhosis
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Citrin deficiency
Citrullinemia
Ck syndrome
Clapo syndrome
Classical hodgkin lymphoma
Classical lissencephalies and subcortical band heterotopias
Classical-like ehlers-danlos syndrome
Clastothrix
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Cleft lip with or without cleft palate
Cleft lip/palate-ectodermal dysplasia syndrome
Cleft palate and ankyloglossia, x-linked
Cleft palate and bilateral cleft lip
Cleft palate with ankyloglossia
Cleft palate with coloboma of eye and deafness
Cleft palate, cardiac defects, and mental retardation
Cleft palate, psychomotor retardation, and distinctive facial features
Cleft soft palate
Cleft uvula
Cleidocranial dysplasia
Cleidocranial dysplasia, forme fruste, dental anomalies only
Cleidocranial dysplasia, forme fruste, with brachydactyly
Clinodactyly
Clonic seizures
Cloves syndrome
Clubfoot
Cns disorder
Coagulation factor deficiency syndrome
Coasy protein-associated neurodegeneration
Coats disease
Cobalamin deficiency
Cobblestone lissencephaly
Cobblestone lissencephaly without muscular or ocular involvement
Cochlear diseases
Cockayne syndrome
Cockayne-touraine disease
Cocoon syndrome
Codas syndrome
Coenzyme a synthase protein associated neurodegeneration
Coenzyme q10 deficiency
Coffin-lowry syndrome
Coffin-siris syndrome
Cofs syndrome
Cognitive disorder
Cognitive impairment with or without cerebellar ataxia
Cohen syndrome
Cohen-gibson syndrome
Cold autoinflammatory syndrome
Cold urticaria
Cold-induced sweating syndrome
Cole carpenter syndrome
Cole disease
Colitis
Coloboma
Coloboma of eye
Coloboma of macula
Coloboma of optic disc
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Colon cancer
Colon carcinoma
Colonic aganglionosis
Colonic neoplasms
Colonic polyposis
Color blindness
Colorectal adenoma
Colorectal adenomatous polyposis
Colorectal cancer
Colorectal neoplasms
Colorectal polyposis
Colpocephaly
Coma
Combined cellular and humoral immune defects with granulomas
Combined deficiency of factor v and factor viii
Combined deficiency of vitamin k-dependent clotting factors
Combined immunodeficiency
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined immunodeficiency, x-linked
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation deficiency
Combined saposin deficiency
Comedonal acne
Comedone
Common carotid artery stenosis
Common carotid artery thrombosis
Common migraine
Common variable immunodeficiency
Communicating hydrocephalus
Compensated hypothyroidism
Compensatory hyperinsulinemia
Complement component deficiency
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Complete androgen insensitivity syndrome
Complete atrioventricular block
Complete atrioventricular canal defect
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of fallot
Complete cryptophthalmia
Complete hydatidiform mole
Complex glycerol kinase deficiency
Complex spastic paraplegia
Complicated corpus callosum dysgenesis, x-linked
Compulsive hoarding
Concentric hypertrophic cardiomyopathy
Conduct disorder
Conduction disorder of the heart
Cone dysfunction syndrome with myopia, x-linked
Cone dystrophy
Cone dystrophy with supernormal rod response
Cone dystrophy, x-linked
Cone monochromatism
Cone-rod dystrophy
Cone-rod dystrophy and hearing loss
Confusional migraine
Congenital abnormal hair pattern
Congenital abnormality of eustachian tube
Congenital absence, atresia and stricture of auditory canal
Congenital absent nipple
Congenital adrenal hyperplasia
Congenital adrenal hypoplasia
Congenital adrenal hypoplasia, x-linked
Congenital adrenal insufficiency, with 46,xy sex reversal, partial or complete
Congenital afibrinogenemia
Congenital alacrima
Congenital alopecia totalis
Congenital alpha-2-antiplasmin deficiency
Congenital alveolar dysplasia
Congenital amegakaryocytic thrombocytopenia
Congenital analbuminemia
Congenital aneurysm of ascending aorta
Congenital ankyloblepharon
Congenital anomalies of kidney and urinary tract
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital anomaly of digestive tract
Congenital anomaly of eye
Congenital anomaly of ischium
Congenital anomaly of limb
Congenital anomaly of neck
Congenital anomaly of nose
Congenital anomaly of rectum
Congenital anomaly of the hand
Congenital anomaly of upper limb
Congenital anosmia
Congenital aphakia
Congenital aplasia of inner ear
Congenital arteriovenous malformation
Congenital atransferrinemia
Congenital atresia of colon
Congenital atresia of ileum
Congenital atresia of larynx
Congenital atresia of pulmonary artery
Congenital atresia of pulmonary valve
Congenital atresia of rectum
Congenital atresia of trachea
Congenital atresia of vas deferens
Congenital bilateral ptosis
Congenital bile acid synthesis defect
Congenital blindness
Congenital bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome
Congenital brain dysgenesis due to glutamine synthetase deficiency
Congenital bronchogenic cyst
Congenital camptodactyly
Congenital cardiac defects
Congenital cataract
Congenital cataract microcornea with corneal opacity
Congenital cataract with corneal dystrophy
Congenital cataract with microcornea or slight microphthalmia
Congenital cataract-hearing loss-developmental delay syndrome
Congenital cataract-hepatopathy-global developmental delay syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataracts, facial dysmorphism, and neuropathy
Congenital cataracts, hearing loss, and neurodegeneration
Congenital central hypothyroidism
Congenital central hypoventilation
Congenital cerebellar ataxia
Congenital cerebral hernia
Congenital cerebral palsy
Congenital chromosomal disease
Congenital clubfoot
Congenital coloboma of iris
Congenital communicating hydrocephalus
Congenital conductive hearing impairment
Congenital contractural arachnodactyly
Congenital contracture
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital corneal dystrophy
Congenital craniofacial dysostosis
Congenital cystic adenomatoid malformation of lung
Congenital defect of folate absorption
Congenital deficiency in alpha-fetoprotein
Congenital deficiency of intrinsic factor
Congenital deformity of foot
Congenital dermal melanocytosis
Congenital diaphragmatic hernia
Congenital digestive system anomalies
Congenital dilatation of pulmonary artery
Congenital dislocation of knee
Congenital disorder of glycosylation
Congenital disorder of glycosylation with defective fucosylation
Congenital duplication of intestine
Congenital duplication of uterus
Congenital dyserythropoietic anemia
Congenital dysfibrinogenemia
Congenital ectodermal dysplasia of face
Congenital enteropathy
Congenital epiblepharon
Congenital epicanthus
Congenital erythropoietic porphyria
Congenital euryblepharon
Congenital exfoliative erythroderma
Congenital exomphalos
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 fibrosis of extraocular muscles
Congenital finger flexion contractures
Congenital foot contraction deformities
Congenital gallbladder anomaly
Congenital genu recurvatum
Congenital glaucoma
Congenital glucose-galactose malabsorption
Congenital heart defects
Congenital heart defects and ectodermal dysplasia
Congenital heart defects and skeletal malformations syndrome
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital heart disease
Congenital hemangioma
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
Congenital hemihypertrophy
Congenital hepatic fibrosis
Congenital hereditary endothelial dystrophy
Congenital high-molecular-weight kininogen deficiency
Congenital hip dislocation
Congenital hydrocephalus
Congenital hydrocephalus, with brain anomalies
Congenital hypercontractile muscle stiffness syndrome
Congenital hypertrichosis, x-linked
Congenital hypertrophic pyloric stenosis
Congenital hypodysfibrinogenemia
Congenital hypogonadotropic hypogonadism
Congenital hypomyelinating neuropathy
Congenital hypoparathyroidism
Congenital hypoplasia of penis
Congenital hypoplasia of pulmonary artery
Congenital hypoplasia of radius
Congenital hypoplasia of thymus
Congenital hypoplastic anemia
Congenital hypothyroidism
Congenital hypothyroidism, nongoitrous
Congenital hypotrichia
Congenital ichthyosis
Congenital insufficiency of pulmonary valve
Congenital intestinal aganglionosis
Congenital intrinsic factor deficiency
Congenital isolated acth deficiency
Congenital isolated thyroxine-binding globulin deficiency
Congenital keratoglobus
Congenital kyphoscoliosis
Congenital lactase deficiency
Congenital lactic acidosis
Congenital lethal myopathy
Congenital leukocyte adherence deficiency
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Congenital lip pits
Congenital lipodystrophy
Congenital lipoid adrenal hyperplasia
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Congenital lipoprotein deficiency
Congenital localized absence of skin
Congenital long qt syndrome
Congenital lung agenesis
Congenital macrodactylia
Congenital macroorchidism
Congenital malformation of cardiac chambers and connections
Congenital malformation of the left heart
Congenital malformation of the urinary system
Congenital malformation syndrome
Congenital malrotation of intestine
Congenital megaureter
Congenital melanocytic nevus
Congenital melanocytic nevus syndrome
Congenital membranous nephropathy
Congenital meningocele
Congenital mesoblastic nephroma
Congenital methemoglobinemia
Congenital microcephaly
Congenital microcephaly-encephalopathy-cerebral atrophy syndrome
Congenital microtia
Congenital mirror movements
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy with intellectual disability and epilepsy
Congenital muscular dystrophy without intellectual disability
Congenital muscular dystrophy, with cataracts and intellectual disability
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital muscular hypertrophy-cerebral syndrome
Congenital musculoskeletal anomalies
Congenital myasthenic syndromes with glycosylation defect
Congenital myopathy
Congenital myopathy with excess of thin filaments
Congenital myopathy with fiber type disproportion
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with myasthenic-like onset
Congenital myopathy with reduce muscle fibers
Congenital myotonia
Congenital myotonic dystrophy
Congenital myxedema
Congenital nemaline myopathy
Congenital nephrotic syndrome
Congenital neuromuscular disease
Congenital neuronal ceroid lipofuscinosis
Congenital neutropenia
Congenital neutropenia, myelofibrosis, nephromegaly syndrome
Congenital non-communicating hydrocephalus
Congenital nonbullous ichthyosiform erythroderma
Congenital nonprogressive spinal muscular atrophy
Congenital nystagmus
Congenital ocular coloboma
Congenital omphalocele
Congenital onychodystrophy
Congenital osteopetrosis
Congenital pain insensitivity
Congenital palmoplantar keratodermia
Congenital palmoplantar keratosis
Congenital pancreatic agenesis
Congenital pectus carinatum
Congenital pectus excavatum
Congenital peripheral neuropathy
Congenital pes cavus
Congenital phimosis
Congenital plasminogen activator inhibitor deficiency
Congenital porencephaly
Congenital posterior urethral valves
Congenital prekallikrein deficiency
Congenital primary aphakia
Congenital ptosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary arteriovenous malformation
Congenital pyloric atresia
Congenital reticular ichthyosiform erythroderma
Congenital retinal fold
Congenital retrognathism
Congenital scoliosis
Congenital secretory diarrhea
Congenital sensorineural hearing loss
Congenital shortened small intestine
Congenital sialidosis
Congenital stationary night blindness
Congenital stationary night blindness, x-linked
Congenital stenosis of nasal pyriform aperture
Congenital stenosis of pulmonary valve
Congenital strabismus
Congenital stromal corneal dystrophy
Congenital structural myopathy
Congenital sucrase-isomaltase deficiency
Congenital supravalvular aortic stenosis
Congenital symmetrical palmoplantar keratosis
Congenital talipes calcaneovalgus
Congenital thrombocytopenia
Congenital thrombotic disease
Congenital thrombotic thrombocytopenic purpura
Congenital torticollis
Congenital total pulmonary venous return anomaly
Congenital tufting enteropathy
Congenital vertebral-cardiac-renal anomalies syndrome
Congenitally corrected transposition of the great arteries with ventricular septal defect
Congestive heart failure
Congestive ophthalmopathy
Conjugated hyperbilirubinemia
Conjunctival dermolipoma
Conjunctival diseases
Conjunctival hamartoma
Conjunctival telangiectasis
Conjunctivitis
Conn adenoma
Conn syndrome
Connective tissue disease
Conotruncal anomaly face syndrome
Conotruncal defect
Conotruncal heart defect
Constitutional megaloblastic anemia with severe neurologic disease
Constitutional mismatch repair deficiency syndrome
Constrictive bronchiolitis
Contiguous abcd1 dxs1357e deletion syndrome
Contiguous gene duplication syndrome
Contiguous gene syndrome
Continuous muscle fiber activity
Continuous spike and waves during slow sleep
Contracture of hamstring
Conus medullaris syndrome
Convergence insufficiency
Convulsions
Convulsions and choreoathetosis
Cooley`s anemia
Coombs positive hemolytic anemia
Copper-overload cirrhosis
Coproporphyria
Cor pulmonale
Cor triatriatum
Coralliform cataract
Cornea plana
Corneal astigmatism
Corneal degeneration
Corneal diseases
Corneal dystrophy
Corneal dystrophy and perceptive deafness
Corneal dystrophy posterior polymorphous
Corneal dystrophy, congenital stromal
Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, epithelial of meesmann
Corneal dystrophy-perceptive deafness syndrome
Corneal endothelial dystrophy
Corneal erosion
Corneal granular dystrophy
Corneal guttata
Corneal hypoesthesia
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Corneal neovascularization
Corneal ulcer
Cornelia de lange syndrome
Coronal craniosynostosis
Coronal hypospadias
Coronary aneurysm
Coronary arteriosclerosis
Coronary artery disease
Coronary artery vasospasm
Coronary heart disease
Coronary restenosis
Coronary sclerosis
Coronary stenosis
Coronary syndrome
Coronary thrombosis
Coronary vessel anomalies
Corpus callosum agenesis neuronopathy
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum agenesis-neuronopathy syndrome
Corpus callosum malformation
Corpus callosum, agenesis, with facial anomalies and cerebellar ataxia
Corpus callosum, agenesis, with mental retardation, ocular coloboma, and micrognathia
Corpus callosum, partial agenesis, x-linked
Corpus luteum cyst
Cortical adenoma of kidney
Cortical cataract
Cortical congenital hyperostosis
Cortical dysgenesis with pontocerebellar hypoplasia
Cortical dysplasia
Cortical dysplasia with focal epilepsy syndrome
Cortical dysplasia with other brain malformations
Cortical dysplasia-focal epilepsy syndrome
Cortical myoclonus
Cortical occipital malformations
Corticobasal degeneration
Corticosteroid-binding globulin deficiency
Corticosterone methyl oxidase deficiency
Corticostriatal-spinal degeneration
Cortisone reductase deficiency
Costello syndrome
Cowchock syndrome
Cowden syndrome
Coxa magna
Coxopodopatellar syndrome
Cranial nerve compression
Cranial nerve paralysis
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Craniodiaphyseal dysplasia
Cranioectodermal dysplasia
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniofacial deafness hand syndrome
Craniofacial dysostosis
Craniofacial dysplasia-osteopenia syndrome
Craniofacial dystonia
Craniofacial ulnar renal syndrome
Craniofacial-deafness-hand syndrome
Craniofrontonasal dysplasia
Craniolenticulosutural dysplasia
Craniometaphyseal dysplasia
Cranioosteoarthropathy
Craniopharyngioma
Craniorachischisis
Craniosynostosis
Craniosynostosis and dental anomalies
Craniosynostosis syndrome
Creatine deficiency
Creatine transporter deficiency, x-linked
Cree leukoencephalopathy
Crest syndrome
Creutzfeldt-jakob disease
Crigler-najjar syndrome
Crisponi syndrome
Crohn disease
Crohn`s disease of large bowel
Crohn`s disease of the ileum
Cronkhite-canada syndrome
Crouzon disease
Crouzon syndrome-acanthosis nigricans syndrome
Crusting erythematous dermatitis
Cruveilhier-baumgarten syndrome
Cryoglobulinemia
Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
Cryopyrin-associated periodic syndromes
Cryptogenic multifocal ulcerous stenosing enteritis
Cryptogenic partial complex epilepsy
Cryptogenic tonic-clonic epilepsy
Cryptogenic west syndrome
Cryptophthalmos
Cryptorchidism
Cryptotia
Csf pleocytosis
Ctla4 deficiency
Cubitus valgus
Culler-jones syndrome
Curly hair, ankyloblepharon, nail dysplasia syndrome
Currarino syndrome
Currarino triad
Curry-jones syndrome
Cushing`s syndrome
Cutaneous leiomyoma
Cutaneous malignant melanoma
Cutaneous mastocytosis
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Cutis laxa
Cutis laxa with pulmonary, gastrointestinal and urinary anomalies
Cutis laxa, x-linked
Cutis marmorata
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Cyanosis
Cyclic neutropenia
Cyclical vomiting syndrome
Cyclin-dependent kinase-like 5 deficiency
Cyclocephaly
Cylindromatosis
Cyst
Cystathionase deficiency
Cystathionine beta-synthase deficiency disease
Cystathioninemia
Cystathioninuria
Cystic fibrosis
Cystic fibrosis of pancreas
Cystic hygroma
Cystic kidney disease
Cystic lesions of the pinnae
Cystic leukoencephalopathy without megalencephaly
Cystic liver disease
Cystic medial necrosis
Cystic medial necrosis of aorta
Cystinosis
Cystinuria
Cystitis
Cystocele
Cystoid macular edema
Cystoid macular retinal degeneration
Cystosarcoma phyllodes
Cytochrome-c oxidase deficiency
Cytosolic acetoacetyl-coa thiolase deficiency
Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder
Czech dysplasia
Dacryocystitis
Dandy-walker syndrome
Darier disease
David syndrome
De barsy syndrome
De la chapelle dysplasia
De sanctis-cacchione syndrome
De vaal`s syndrome
Deafness
Deafness and myopia
Deafness enamel hypoplasia nail defects
Deafness with dentinogenesis imperfecta
Deafness with hypertrophic cardioyopathy
Deafness with labyrinthine aplasia microtia and microdontia
Deafness with or without vestibular involvement
Deafness, congenital heart defects, and posterior embryotoxon
Deafness, digenic
Deafness, nonsyndromic sensorineural
Deafness, nonsyndromic sensorineural, mitochondrial
Deafness, sensorineural, with hypertrophic cardiomyopathy
Deafness, x-linked
Deafness,nonsyndromic sensorineural, with dentinogenesis imperfecta
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Deafness-onychodystrophy syndrome
Dedifferentiated liposarcoma
Deep dermatophytosis
Defect of skull ossification
Deficiency of 3-oxoacid coa-transferase
Deficiency of acetyl-coa acetyltransferase
Deficiency of aldehyde oxidase
Deficiency of aromatic-l-amino-acid decarboxylase
Deficiency of bisphosphoglycerate mutase
Deficiency of butyryl-coa dehydrogenase
Deficiency of carboxypeptidase b
Deficiency of dihydrofolate reductase
Deficiency of fructokinase
Deficiency of galactokinase
Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate isomerase
Deficiency of glutamate decarboxylase
Deficiency of glycerate kinase
Deficiency of glycerol kinase
Deficiency of hexosediphosphatase
Deficiency of hydroxymethylglutaryl-coa lyase
Deficiency of iodide peroxidase
Deficiency of maleylacetoacetate isomerase
Deficiency of mevalonate kinase
Deficiency of phosphoglycerate kinase
Deficiency of phospholipase a2
Deficiency of phosphoserine phosphatase
Deficiency of platelet glycoprotein 1b
Deficiency of prolidase
Deficiency of pyruvate kinase
Deficiency of sedoheptulokinase
Deficiency of testosterone biosynthesis
Deficiency of uroporphyrinogen iii synthase
Degeneration of the striatum
Degenerative brain disorder
Degenerative diseases, central nervous system
Degenerative vitreoretinopathy
Dehydrated hereditary stomatocytosis
Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
Dejerine-sottas disease
Delayed menarche
Delayed sleep phase syndrome
Delayed speech and language development
Deletion 5q36
Delirium
Delirium, dementia, amnestic, cognitive disorders
Delta-beta thalassemia
Delta-thalassemia
Delusional disorder
Delusions
Dementia
Dementia of frontal lobe
Dementia with lewy body
Demyelinating diseases
Demyelinating leukodystrophy
Demyelinating neuropathy
Demyelinating sensory neuropathy
Dend syndrome
Dense deposit disease
Dental anomalies and short stature
Dental caries
Dental diseases
Dental enamel hypoplasia
Dental pulp stone
Dentatorubral pallidoluysian atrophy
Denticles
Dentin dysplasia
Dentin dysplasia, with extreme microdontia and misshapen teeth
Dentinogenesis imperfecta
Dent`s disease
Denys-drash syndrome
Deoxyguanosine kinase deficiency
Depressed bipolar disorder
Derealization
Dermatitis
Dermatitis-multiple allergies-metabolic wasting syndrome
Dermatofibrosarcoma
Dermatofibrosarcoma protuberans
Dermatofibrosis lenticularis disseminata
Dermatographic urticaria
Dermatologic disorders
Dermatomyositis
Dermatopathia pigmentosa reticularis
Dermatosparaxis ehlers-danlos syndrome
Dermodistortive urticaria
Dermographism
Dermoid cyst
Dermoid cyst of ovary
Desanto-shinawi syndrome
Desbuquois dysplasia
Desbuquois syndrome
Descending aortic dissection
Desmin-related myopathy with mallory body-like inclusions
Desminopathy
Desmoid disease, hereditary
Desmoid tumor
Desmoplastic tumor
Desmoplastic/nodular medulloblastoma
Desmosterolosis
Detrusor and sphincter dyssynergia
Deuteranomaly
Development disorder
Developmental and epileptic encephalopathy
Developmental and speech delay
Developmental cardiac valvular defect
Developmental delay
Developmental delay with autism spectrum disorder and gait instability
Developmental delay with short stature, dysmorphic features, and sparse hair
Developmental delay, intellectual disability, obesity, and dysmorphic features
Developmental delay-central nervous system anomaly-syndactyly syndrome
Developmental delay-facial dysmorphism syndrome
Developmental delay-microcephaly-facial dysmorphism syndrome
Developmental dyslexia
Developmental dysplasia
Developmental dysplasia of the hip
Developmental dyspraxia
Developmental malformations-deafness-dystonia syndrome
Developmental porencephaly
Developmental regression
Dextro-looped transposition of the great arteries
Dextrocardia
Diabetes
Diabetes and hearing loss
Diabetes insipidus
Diabetes mellitus
Diabetes mellitus with acanthosis nigricans
Diabetes mellitus with congenital hypothyroidism
Diabetes mellitus, with neurologic features
Diabetes mellitus-central and peripheral neurodegeneration syndrome
Diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Diabetic amyotrophy
Diabetic asymmetric polyneuropathy
Diabetic autonomic neuropathy
Diabetic cardiomyopathy
Diabetic foot
Diabetic ketoacidosis
Diabetic maculopathy
Diabetic mononeuropathy
Diabetic nephropathy
Diabetic neuralgia
Diabetic polyneuropathy
Diabetic retinopathy
Diamond-blackfan anemia
Diamond-blackfan anemia with mandibulofacial dysostosis
Diaphanospondylodysostosis
Diaphragmatic eventration
Diaphragmatic hernia-short bowel-asplenia syndrome
Diaphyseal dysplasia
Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis-bone malignancy syndrome
Diastematomyelia
Diastrophic dwarfism
Diastrophic dysplasia
Diffuse alveolar hemorrhage
Diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Diffuse cerebral and cerebellar atrophy - intractable seizures - microcephaly syndrome
Diffuse cutaneous systemic sclerosis
Diffuse interstitial pulmonary fibrosis
Diffuse intrinsic pontine glioma
Diffuse leiomyomatosis
Diffuse lymphoma
Diffuse palmoplantar hyperkeratosis
Diffuse palmoplantar keratoderma with painful fissures
Diffuse palmoplantar keratoderma, bothnian type
Diffuse panbronchiolitis
Diffuse skin atrophy
Digeorge syndrome
Digestive epilepsy
Digestive system disorders
Digestive system neoplasms
Digestive system neuroendocrine neoplasm
Digital arthropathy-brachydactyly
Digitorenocerebral syndrome
Digitotalar dysmorphism
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidinuria
Dilated cardiomyopathy
Dilated cardiomyopathy with ataxia
Dilated cardiomyopathy with conduction defect
Dilated cardiomyopathy with woolly hair and keratoderma
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Dimelia
Dimethylglycine dehydrogenase deficiency
Disability-motor dysfunction-multiple joint contractures syndrome
Dislocated radial head
Disorder of amino acid metabolism
Disorder of eye
Disorder of fetal nutrition
Disorder of macula of retina
Disorder of sex development
Disorder of skeletal muscle
Disruptive behavior disorder
Dissecting aortic aneurysm
Dissection of carotid artery
Disseminated intravascular coagulation
Disseminated superficial actinic porokeratosis
Distal 16p11.2 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal amyotrophy
Distal anoctaminopathy
Distal arthrogryposis
Distal axonal motor neuropathy-myofibrillar myopathy syndrome
Distal hereditary motor neuronopathy
Distal lower limb amyotrophy
Distal monosomy 12p
Distal monosomy 15q
Distal monosomy 1q
Distal muscular atrophy
Distal muscular dystrophy
Distal myopathy
Distal myopathy with anterior tibial onset
Distal myopathy with posterior leg and anterior hand involvement
Distal myotilinopathy
Distal nebulin myopathy
Distal peripheral sensory neuropathy
Distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Distal spinal muscular atrophy
Distal spinal muscular atrophy, congenital nonprogressive
Distal tubular acidosis
Distal upper limb amyotrophy
Diverticular bleeding
Diverticular diseases
Diverticulitis
Diverticulosis of the duodenum
Diverticulum of renal calyx
Dna ligase i deficiency
Dna repair-deficiency disorders
Dock2 deficiency
Dolichocephaly
Donnai-barrow syndrome
Doors syndrome
Dopa-responsive dystonia
Dopamine beta hydroxylase deficiency
Double outlet left ventricle
Double outlet right ventricle
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
Double ureter
Doughnut lesions of skull
Dowling-degos disease
Down syndrome
Doyne honeycomb retinal dystrophy
Drachtman weinblatt sitarz syndrome
Dravet syndrome
Drusen
Dry eye syndromes
Duane retraction syndrome
Duane retraction syndrome with congenital deafness
Duane retraction syndrome with or without deafness
Duane syndrome
Duane-radial ray syndrome
Dubin-johnson syndrome
Dubowitz syndrome
Duchenne and becker muscular dystrophy
Duchenne muscular dystrophy
Ductal carcinoma
Duodenal atresia
Duodenal polyposis
Duodenal ulcer
Dupuytren contracture
Dursun syndrome
Dwarfism
Dyggve-melchior-clausen disease
Dyggve-melchior-clausen syndrome x-linked
Dysalbuminemic hyperthyroxinemia
Dysarthria
Dysautonomia
Dysbetalipoproteinemia
Dyscalculia
Dyschondroplasias
Dyschromatopsia
Dyschromatosis
Dyschromatosis symmetrica hereditaria
Dyschromatosis universalis hereditaria
Dyscognitive seizures
Dysembryoplastic neuroepithelial tumor
Dysequilibrium syndrome
Dyserythropoietic anemia with abnormal platelets and neutropenia, x-linked
Dyserythropoietic anemia with thrombocytopenia
Dysferlinopathy
Dysfibrinogenemia
Dysgammaglobulinemia
Dysgenesis neuroepithelialis retinae
Dysgenesis of the basal ganglia
Dysgenesis of the hippocampus
Dysgerminoma
Dysgnathia complex
Dysgraphia
Dyskeratosis congenita
Dyskeratosis congenita, x-linked
Dyskinesia
Dyskinesia and facial myokymia
Dyskinesia, limb and orofacial
Dyskinesia, seizures, and intellectual developmental disorder
Dyskinesia, with facial myokymia
Dyskinetic syndrome
Dyslalia
Dyslexia
Dyslipidemias
Dysmorphic features
Dysmorphism
Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia
Dysmyelinating leukodystrophy with oligodontia
Dysosteosclerosis
Dysostoses
Dysphagia
Dysphasia
Dysplastic cerebellar gangliocytoma
Dysplastic corpus callosum
Dysplastic erythropoesis
Dysplastic granulopoesis
Dysplastic nevus
Dyspnea, paroxysmal
Dyssegmental dysplasia
Dyssomnia
Dysspondyloenchondromatosis
Dysthymic disorder
Dystonia
Dystonia with optic atrophy and basal ganglia abnormalities
Dystonia, dopa-responsive, with or without hyperphenylalaninemia
Dystonia-parkinsonism
Dystonia-parkinsonism, x-linked
Dystonia-parkinsonism-hypermanganesemia syndrome
Dystransthyretinemic euthyroidal hyperthyroxinemia
Dystrophic epidermolysis bullosa
Ear diseases
Ear-patella-short stature syndrome
East syndrome
Eating disorders
Ebstein anomaly of the tricuspid valve
Echogenic bowel
Eclampsia
Ectodermal dysplasia
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia syndactyly syndrome
Ectodermal dysplasia/short stature syndrome
Ectopia lentis
Ectopia lentis isolated
Ectopic accessory finger-like appendage
Ectopic acth secretion syndrome
Ectopic adrenal gland
Ectopic anterior pituitary gland
Ectopic anus
Ectopic kidney
Ectopic pupil
Ectopic spleen
Ectrodactyly
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome
Ectropion
Ectropion uveae
Eczema
Edict syndrome
Ehlers-danlos syndrome
Ehlers-danlos syndrome, x-linked
Ehlers-danlos/osteogenesis imperfecta crossover syndrome
Eichsfeld type congenital muscular dystrophy
Eiken skeletal dysplasia
Eiken syndrome
Elbow ankylosis
Elbow flexion contracture
Elbow hypertrichosis
Elejalde disease
Elliptocytosis
Ellis-van creveld syndrome
Emberger syndrome
Embolism
Embolism and thrombosis
Embryonal neoplasm
Embryonal rhabdomyosarcoma
Embryopathy
Emery-dreifuss muscular dystrophy
Emery-dreifuss muscular dystrophy, x-linked
Emphysema
Empty follicle syndrome
Empty sella syndrome
Enamel-renal syndrome
Encapsulating peritoneal sclerosis
Encephalitis
Encephalitis/encephalopathy with reversible myelin vacuolization
Encephalocele
Encephalocraniocutaneous lipomatosis
Encephalomalacia
Encephalomyopathy
Encephalomyopathy-cardiomyopathy-respiratory distress syndrome
Encephalopathy
Encephalopathy with biphasic seizures and diffusion
Encephalopathy with brain atrophy and thin corpus callosum
Encephalopathy with brain edema and/or leukoencephalopathy
Encephalopathy with microcephaly
Encephalopathy with neuroserpin inclusion bodies
Encephalopathy, with amyotrophy and optic atrophy
Encephalopathy, with or without lipodystrophy
Encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Enchondroma
Enchondromatosis
End stage liver disease
Endemic cretinism
Endemic goiter
Endocardial fibroelastosis
Endocarditis
Endocrine breast diseases
Endocrine gland cancer
Endocrine gland neoplasms
Endocrine system diseases
Endocrine-cerebroosteodysplasia
Endogenous hyperinsulinism
Endometrial adenocarcinoma
Endometrial cancer
Endometrial carcinoma
Endometrial diseases
Endometrial endometrioid adenocarcinoma, variant with squamous differentiation
Endometrial hyperplasia
Endometrial neoplasms
Endometrial stromal sarcoma
Endometrioid cancer
Endometrioma
Endometriosis
Endosteal hyperostosis
Endosteal sclerosis-cerebellar hypoplasia syndrome
Endplate acetylcholinesterase deficiency
Enhanced s-cone syndrome
Enlarged lymph nodes
Enlarged parietal foramina
Enlarged polycystic ovaries
Enteritis
Enterocolitis
Enterokinase deficiency
Enteropathy associated with slco2a1 gene
Enteropathy-associated t-cell lymphoma
Enthesitis
Entropion
Environmental sleep disorder
Enzymopathy
Eosinophil peroxidase deficiency
Eosinophilia
Eosinophilic leukemia
Eosinophilic myositis
Ependymoblastoma
Ependymoma
Epidermal nevus
Epidermal nevus syndrome
Epidermal nevus with urothelial cancer
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa dystrophica inversa
Epidermolysis bullosa pruriginosa
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with cardiomyopathy
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex without extracutaneous involvement
Epidermolysis bullosa simplex, with scarring and hair loss
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Epidermolytic palmoplantar keratoderma of vorner
Epidermolytic palmoplantar keratoderma, with knuckle pads
Epididymitis
Epilepsia partialis continua
Epilepsy
Epilepsy and migraine
Epilepsy with auditory features
Epilepsy with encephalopathy
Epilepsy with febrile seizures plus
Epilepsy with tonic-clonic seizures
Epilepsy, benign and/or myokymia
Epilepsy, focal, with speech disorder and with or without mental retardation
Epilepsy, hearing loss, and mental retardation syndrome
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer`s cramp
Epilepsy, x-linked, with variable learning disabilities and behavior disorders
Epilepsy-intellectual disability-brain anomalies syndrome
Epilepsy-learning disabilities-behavior disorders syndrome, x-linked
Epilepsy-paroxysmal dyskinesia syndrome
Epileptic encephalopathy
Epileptic encephalopathy and intellectual disability
Epileptic encephalopathy with global cerebral demyelination
Epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epileptic-dyskinetic encephalopathy
Epiphyseal chondrodysplasia
Epiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Epiretinal membrane
Episcleritis
Episodic ataxia
Episodic kinesigenic dyskinesia
Episodic pain syndrome
Episodic paroxysmal anxiety
Episodic quadriplegia
Epispadias
Epithelial basement membrane dystrophy
Epithelial erosion dystrophy
Epithelial tumor of ovary
Epithelioid hemangioendothelioma
Epithelioid hemangioma
Epithelioid melanoma
Epithelioma
Epitope deficiency
Epstein syndrome
Erdheim-chester disease
Erectile dysfunction
Erosion of cornea
Erotomania
Erysipelas
Erythema
Erythema nodosum
Erythermalgia
Erythroblastic leukemia
Erythroblastosis fetalis
Erythrocyte amp deaminase deficiency
Erythrocyte galactose epimerase deficiency
Erythrocyte lactate transporter defect
Erythrocytosis
Erythroderma
Erythroid hyperplasia
Erythroid hypoplasia
Erythrokeratoderma
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis et progressiva
Erythrokeratodermia-cardiomyopathy syndrome
Erythroleukemia
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic protoporphyria, x-linked
Esodeviation
Esophageal and gastric varices
Esophageal atresia
Esophageal cancer
Esophageal carcinoma
Esophageal diseases
Esophageal dysphagia
Esophageal stenosis
Esophageal stricture
Esophageal varix
Esophagus neoplasm
Esophoria
Esotropia
Essential hypertension
Estren-dameshek variant of fanconi pancytopenia
Estrogen resistance
Ethylmalonic encephalopathy
Euthyroid goiter
Euthyroid multinodular goiter
Evans syndrome
Even-plus syndrome
Ewing sarcoma
Excessive tearing
Exfoliation syndrome
Exfoliative dermatitis
Exfoliative ichthyosis
Exfoliative ichthyosis, ichthyosis bullosa of siemens-like
Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Exodeviation
Exogenous hyperinsulinism
Exophoria
Exostosis of external ear canal
Exotropia
Expansile osteolysis
Expressive language delay
External auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, x-linked
External carotid artery stenosis
External carotid artery thrombosis
External ophthalmoplegia
External ophthalmoplegia with mitochondrial myopathy
Extra-adrenal paraganglioma
Extra-adrenal pheochromocytoma
Extra-oral halitosis
Extra-osseous ewing`s sarcoma
Extrahepatic biliary atresia
Extranodal nk t cell lymphoma
Extraocular muscle paresis
Extrapyramidal disease
Extrapyramidal dyskinesia
Extraskeletal ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Exudative macular degeneration
Exudative retinopathy
Exudative vitreoretinopathy
Eye diseases
Eye neoplasms
Eyelid myoclonias
Eyelid xanthoma
Fabry disease
Fabry disease, cardiac variant
Facial dermatosis
Facial diplegia
Facial dysmorphism
Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial midline hemangioma
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
Facial paralysis
Facial wart
Faciodigitogenital syndrome
Facioscapulohumeral dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral spinal muscular atrophy
Factor ii deficiency
Factor v deficiency
Factor vii deficiency
Factor viii deficiency
Factor x deficiency
Factor xii deficiency
Fahr`s syndrome
Failure of tooth eruption
Fallopian tube carcinoma
Fanconi anemia
Fanconi renotubular syndrome with maturity-onset diabetes of the young
Fanconi syndrome
Fanconi-bickel syndrome
Farber disease
Fasciitis
Fatal congenital hypertrophic cardiomyopathy
Fatal cytochrome c oxidase deficiency
Fatal insomnia
Fatal mitochondrial disease
Fatty acid hydroxylase associated neurodegeneration
Fatty acyl-coa reductase deficiency
Fatty liver
Favism
Favre-racouchot syndrome
Febrile convulsions
Febrile seizures
Fechtner syndrome
Feeding disorders
Feingold syndrome
Female anorgasmia
Female hypogonadism syndrome
Female infertility
Female pseudohermaphroditism
Female restricted epilepsy with intellectual disability
Female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, x-linked
Female sexual dysfunction
Female urogenital diseases
Femur head necrosis
Ferrocerebrocutaneous syndrome
Ferrochelatase deficiency
Fetal akinesia deformation sequence
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal ascites
Fetal cerebral ventriculomegaly
Fetal diseases
Fetal encasement syndrome
Fetal gaucher disease
Fetal megacystis
Fetal resorption
Fg syndrome
Fg syndrome phenotypic spectrum
Fgfr2-related craniosynostosis
Fibrillary astrocytoma
Fibrinogen a alpha-chain amyloidosis
Fibrinogen deficiency
Fibroadenoma
Fibroadenoma of breast
Fibroatheroma
Fibrocartilaginous dysplasia of bone
Fibrochondrogenesis
Fibrocystic dysplasia of bone
Fibrodysplasia ossificans progressiva
Fibrofolliculoma
Fibroma
Fibromatosis
Fibromuscular dysplasia
Fibromyxosarcoma
Fibronectin glomerulopathy
Fibrosarcoma
Fibrosis of extraocular muscles
Fibrosis of pancreas
Fibrosis, neurodegeneration, and cerebral angiomatosis
Fibrous dysplasia
Fibrous dysplasia of bone with intramuscular myxoma
Fibrous histiocytoma
Fibrous meningioma
Fibular aplasia-complex brachydactyly syndrome
Fibular hypoplasia and complex brachydactyly
Ficolin 3 deficiency
Fifth finger distal phalanx clinodactyly
Filippi syndrome
Fingernail dysplasia
Finnish congenital nephrotic syndrome
Fish-eye disease
Fistula of branchial cleft
Fleck corneal dystrophy
Fleck retina
Flexion contracture of hip
Flexion contracture of wrist
Floating-harbor syndrome
Focal clonic seizures
Focal cortical dysplasia
Focal dermal hypoplasia
Focal dystonia
Focal epilepsy
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Focal facial dermal dysplasia
Focal lissencephaly
Focal myoclonic seizures
Focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Focal palmoplantar keratoderma with joint keratoses
Focal segmental glomerulosclerosis
Focal seizures
Focal sensory seizure
Focal tonic seizures
Folate-unresponsive megaloblastic anemia
Folic acid deficiency
Follicle stimulating hormone deficiency
Follicular atrophoderma and basal cell epitheliomata
Follicular cyst
Follicular lymphoma
Follicular thyroid carcinoma
Folliculitis
Food intolerance
Foot osteomyelitis
Foot polydactyly
Forebrain defects
Fossa meningioma
Foster-kennedy syndrome
Foveal hypoplasia
Foveal hypoplasia-presenile cataract syndrome
Foveomacular vitelliform dystrophy
Fowler syndrome
Fowler vasculopaty
Foxg1 syndrome
Fragile x syndrome
Frank-ter haar syndrome
Fraser syndrome
Frasier syndrome
Free sialic acid storage disease
Freeman-sheldon syndrome
Fried syndrome
Friedreich ataxia
Frigidity
Frontal bossing
Frontal encephalocele
Frontal fibrosing alopecia
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontoparietal cortical dysplasia
Frontorhiny
Frontotemporal cerebral atrophy
Frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Frontotemporal dementia with or without amyotrophic lateral sclerosis
Frontotemporal dementia with tdp43 inclusions
Frontotemporal lobar degeneration with tdp43 inclusions
Fructose-1,6-bisphosphatase deficiency
Fructose-1,6-diphosphatase deficiency
Fructosuria
Fryns syndrome
Fuchs endothelial dystrophy
Fucosidase deficiency disease
Fucosidosis
Fuhrmann syndrome
Fukuyama type congenital muscular dystrophy
Full thickness hole of macula lutea
Fulminant hepatic failure with cerebral edema
Fulminant hepatitis
Fumarase deficiency
Functional gastrointestinal disorders
Fundus albipunctatus
Fundus coloboma
Fundus dystrophy, pseudoinflammatory, of sorsby
Funisitis
Fused incisors
Gabriele de vries syndrome
Gait apraxia
Gait disturbance
Galactokinase deficiency
Galactose epimerase deficiency
Galactose mutarotase deficiency
Galactosemia
Galactosialidosis
Gallbladder cancer
Gallbladder disease
Galloway-mowat syndrome
Galns deficiency
Gamma aminobutyric acid transaminase deficiency
Gamma-cystathionase deficiency
Gamma-glutamyl transpeptidase deficiency
Gamma-glutamylcysteine synthetase deficiency
Gamma-glutamyltransferase deficiency
Ganglioglioma
Ganglioneuroblastoma
Ganglioneuroma
Gangliosidosis
Gangliosidosis, with cardiac involvement
Gangrene
Gapo syndrome
Gardner syndrome
Gastric adenocarcinoma and proximal polyposis of the stomach
Gastric cancer
Gastric cardia carcinoma
Gastric lymphoma
Gastric neuroendocrine tumor
Gastric polyposis
Gastric ulcer
Gastric varix
Gastrinoma
Gastritis
Gastroenteritis
Gastroesophageal reflux disease
Gastrointestinal angiodysplasia
Gastrointestinal atresia
Gastrointestinal carcinoma
Gastrointestinal diseases
Gastrointestinal inflammation
Gastrointestinal neoplasms
Gastrointestinal polyposis
Gastrointestinal polyps
Gastrointestinal stromal tumor
Gastrointestinal telangiectasia
Gastroparesis
Gastroschisis
Gata2 deficiency
Gaucher disease
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Gaze palsy, familial horizontal, with progressive scoliosis
Gaze palsy, with progressive scoliosis
Gelatinous droplike corneal dystrophy
Geleophysic dysplasia
Gemistocytic astrocytoma
Gemss syndrome
Generalized dominant dystrophic epidermolysis bullosa
Generalized dyskinesia with orofacial involvement
Generalized epilepsy and paroxysmal dyskinesia
Generalized epilepsy with febrile seizures plus
Genetic hyperferritinemia without iron overload
Genetic myoglobinuria
Genetic steroid-resistant nephrotic syndrome
Genetic transient congenital hypothyroidism
Genital diseases
Genital infantilism
Genital neoplasms, female
Genital ulcers
Genitopatellar syndrome
Genitourinanry tract tumors
Genitourinary cancer
Genitourinary neoplasms
Geographic atrophy
Germinoma of the central nervous system
Geroderma osteodysplastica
Gerstmann-straussler-scheinker syndrome
Gestational trophoblastic neoplasms
Ghosal hematodiaphyseal dysplasia
Gianotti-crosti syndrome
Giant axonal neuropathy
Giant cell arteritis
Giant cell fibroblastoma
Giant cell glioblastoma
Giant cell tumor of bone
Giant intracranial aneurysm
Giant platelet syndrome with thrombocytopenia
Gilbert disease
Gillespie syndrome
Gingival fibromatosis
Gingival fibromatosis-hypertrichosis syndrome
Gingival hyperkeratosis
Gingival hypertrophy
Gingival recession
Gingivitis
Gitelman syndrome
Glabellar hemangioma
Glandular neoplasms
Glanzmann thrombasthenia
Glaucoma
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Glaucoma, congenital
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Glioblastoma
Glioma
Gliosarcoma
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Global developmental delay, lung cysts, overgrowth, and wilms tumor
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Globe rupture
Globoid cell leukodystrophy
Glomerular hyalinosis
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Glomerulonephritis
Glomerulopathy with fibronectin deposits
Glomerulosclerosis
Glomus jugulare tumor
Glomus tympanicum paraganglioma
Glomus vagale tumor
Glomuvenous malformation
Glossitis
Glossoptosis
Glucagonoma
Glucocorticoid deficiency
Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with mineralocorticoid deficiency
Glucocorticoid deficiency with or without mineralocorticoid deficiency
Glucocorticoid receptor deficiency
Glucocorticoid resistance syndrome
Glucocortocoid-insensitive hyperaldosteronism
Glucose metabolism disorders
Glucose transporter deficiency syndrome
Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate transport defect
Glucose-galactose malabsorption
Glut1 deficiency syndrome
Glutamate formiminotransferase deficiency
Glutamate-cysteine ligase deficiency
Glutaric acidemia
Glutaric aciduria
Glutaryl-coa dehydrogenase deficiency
Glutathione synthetase deficiency of erythrocytes
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Gluten intolerance
Gluthathione peroxidase deficiency
Gluthathione synthetase deficiency
Glycerol kinase deficiency
Glycine encephalopathy
Glycine encephalopathy with normal serum glycine
Glycine n-methyltransferase deficiency
Glycogen storage disease
Glycogen storage disease with severe cardiomyopathy
Glycoprotein ia deficiency
Glycoprotein vi deficiency
Glycosuria, renal
Glycosylphosphatidylinositol deficiency
Gm1 gangliosidosis
Gm3 synthase deficiency
Gnathodiaphyseal dysplasia
Gne myopathy
Goldberg-shprintzen megacolon syndrome
Goldenhar syndrome
Goldmann-favre syndrome
Gollop-wolfgang complex
Gonadal agenesis
Gonadal dysgenesis
Gonadal dysgenesis with female appearance, male
Gonadal hypoplasia
Gonadoblastoma
Gonadotropin deficiency
Gonadotropin-resistant ovary syndrome
Gordon holmes syndrome
Gordon syndrome
Gorlin chaudhry moss syndrome
Gorlin syndrome
Gout
Gouty arthritis
Gpihbp1 deficiency
Gracile bone dysplasia
Gracile syndrome
Grade i astrocytoma
Graft-vs-host disease
Graham little piccardi lassueur syndrome
Grammar-specific speech disorder
Grand mal status epilepticus
Grange syndrome
Granular cell tumor
Granular corneal dystrophy
Granulocytopenia with immunoglobulin abnormality
Granulomas
Granulomatosis
Granulomatosis with polyangiitis
Granulomatous disease
Granulomatous slack skin
Granulosa cell tumor
Graves disease
Gray platelet syndrome
Greenberg dysplasia
Greig cephalopolysyndactyly syndrome
Griscelli syndrome
Groenouw corneal dystrophy
Groenouw`s dystrophies
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth deficiency and mental retardation with facial dysmorphism
Growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Growth delay due to insulin-like growth factor deficiency
Growth delay due to insulin-like growth factor i resistance
Growth delay-intellectual disability-hepatopathy syndrome
Growth hormone deficiency
Growth hormone deficiency with pituitary anomalies
Growth hormone insensitivity with immune dysregulation
Growth restriction, severe, with distinctive facies
Growth retardation, alopecia, pseudoanodontia and optic atrophy
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Gtp cyclohydrolase i deficiency
Guam parkinsonism dementia complex
Guanidinoacetate methyltransferase deficiency
Guillain-barre syndrome
Guttmacher syndrome
Gynandroblastoma
Gynecomastia
Gyrate atrophy
Gyrate atrophy of choroid and retina
H syndrome
Haddad syndrome
Haim-monk syndrome
Haim-munk syndrome
Hair diseases
Hairy cell leukemia
Hajdu-cheney syndrome
Hallermann`s syndrome
Hallucinations
Hamartoma
Hamartomatous polyposis
Hamel cerebro-palato-cardiac syndrome
Hamman-rich syndrome
Hanac syndrome
Hand flapping
Hand-foot-genital syndrome
Haploinsufficiency syndrome
Harderoporphyria
Harel-yoon syndrome
Harlequin ichthyosis
Hartnup disease
Hartsfield syndrome
Hashimoto disease
Hawkinsinuria
Hay-wells syndrome
Head and neck cancer
Head and neck carcinoma
Head and neck neoplasms
Head neoplasms
Hearing impairment
Hearing loss
Heart and brain malformation syndrome
Heart block
Heart defect, tongue hamartoma and polysyndactyly
Heart defects, congenital, and other congenital anomalies
Heart diseases
Heart failure
Heart septal defects
Heart-hand syndrome
Hecht syndrome
Heimler syndrome
Helicoid peripapillary chorioretinal degeneration
Helix syndrome
Hellp syndrome
Helsmoortel-van der aa syndrome
Hemangioblastic meningioma
Hemangioblastoma
Hemangioma
Hemangioma of choroid
Hemangioma of the lip
Hemangioma, cavernous
Hemangiomatosis
Hemangiopericytic meningioma
Hemangiopericytoma
Hemangiosarcoma
Hematologic malignancy predisposition syndrome
Hematologic neoplasms
Hematological disease
Hematomas
Hematopoesis
Hematopoietic neoplasms
Hematuria
Heme oxygenase 1 deficiency
Hemeralopia
Hemianopsia
Hemiballismus
Hemicrania migraine
Hemifacial hypoplasia
Hemifacial seizures
Hemihyperplasia
Hemihyperplasia-multiple lipomatosis syndrome
Hemimegalencephaly
Hemiplegia
Hemiplegia/hemiparesis
Hemiplegic migraine
Hemochromatosis
Hemoglobin barts hydrops
Hemoglobin bart`s hydrops syndrome
Hemoglobin c disease
Hemoglobin c-beta-thalassemia syndrome
Hemoglobin d disease
Hemoglobin e disease
Hemoglobin e-beta-thalassemia syndrome
Hemoglobin h disease
Hemoglobin h hydrops fetalis syndrome
Hemoglobin lepore-beta-thalassemia syndrome
Hemoglobin m disease
Hemoglobin m methemoglobinemia
Hemoglobinopathy
Hemoglobinopathy toms river
Hemolysis
Hemolytic anemia
Hemolytic uremic syndrome
Hemophagocytic lymphohistiocytosis
Hemophagocytic syndrome
Hemophilia
Hemophilia a
Hemophilia b
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Hemorrhagic disease
Hemorrhagic disorders
Hemorrhoids
Hennekam lymphangiectasia-lymphedema syndrome
Hennekam syndrome
Henoch-schonlein nephritis
Heparin cofactor ii deficiency
Hepatic adenomas
Hepatic amyloidosis
Hepatic arteriovenous malformation
Hepatic calcification
Hepatic coma
Hepatic encephalopathy
Hepatic lipase deficiency
Hepatic methionine adenosyltransferase deficiency
Hepatic periportal necrosis
Hepatic porphyria
Hepatic steatosis
Hepatic stupor
Hepatic vein thrombosis
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatic venoocclusive disease with immunodeficiency
Hepatoblastoma
Hepatocellular adenoma
Hepatocellular carcinoma
Hepatoencephalopathy
Hepatoerythropoietic porphyria
Hepatolenticular degeneration
Hepatorenal syndrome
Hereditary and idiopathic neuropathy
Hereditary arterial and articular multiple calcification syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary bundle branch system defect
Hereditary c1 esterase inhibitor deficiency
Hereditary cancer
Hereditary cancer syndrome
Hereditary central diabetes insipidus
Hereditary cerebral amyloid angiopathy
Hereditary chorea
Hereditary clubbing
Hereditary congenital spastic tetraplegia
Hereditary continuous muscle fiber activity
Hereditary coproporphyria
Hereditary corneal dystrophy
Hereditary cryohydrocytosis with normal stomatin
Hereditary cryohydrocytosis with reduced stomatin
Hereditary cutaneous melanoma
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary disturbances in tooth structure
Hereditary elliptocytosis
Hereditary essential tremor
Hereditary factor ii deficiency disease
Hereditary factor v deficiency
Hereditary factor x deficiency disease
Hereditary factor xi deficiency
Hereditary factor xiii deficiency
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary fructosuria
Hereditary gingival fibromatosis
Hereditary hemochromatosis
Hereditary hemorrhagic telangiectasia
Hereditary hypercarotenemia and vitamin a deficiency
Hereditary hyperekplexia
Hereditary hyperferritinemia with congenital cataracts
Hereditary hypophosphatemic rickets with hypercalciuria
Hereditary hypotrichosis
Hereditary hypotrichosis with skin vesicles
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Hereditary insensitivity to pain with anhidrosis
Hereditary isolated aplastic anemia
Hereditary leber optic atrophy
Hereditary leiomyomatosis and renal cancer
Hereditary liability to pressure palsies
Hereditary methemoglobinemia
Hereditary mixed polyposis syndrome
Hereditary motor and sensory neuropathy
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary motor neuropathy
Hereditary myopathy with early respiratory failure
Hereditary myopathy with lactic acidosis
Hereditary nephritis
Hereditary neuralgic amyotrophy
Hereditary neuroendocrine tumor of small intestine
Hereditary neuropathy with liability to pressure palsies
Hereditary neutrophilia
Hereditary nonpolyposis colorectal cancer
Hereditary opalescent dentin
Hereditary optic atrophy
Hereditary orotic aciduria
Hereditary palmoplantar keratoderma
Hereditary pancreatitis
Hereditary papillary renal carcinoma
Hereditary paraganglioma
Hereditary paraganglioma-pheochromocytoma syndromes
Hereditary parkinson`s disease
Hereditary pediatric behcet-like disease
Hereditary persistence of alpha-fetoprotein
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary pheochromocytoma-paraganglioma
Hereditary pulmonary alveolar proteinosis
Hereditary pyropoikilocytosis
Hereditary renal carcinoma
Hereditary renal hypouricemia
Hereditary retinal dystrophy
Hereditary retinoblastoma
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy with deafness, x-linked
Hereditary sensory neuropathy with spastic paraplegia
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary site-specific ovarian cancer syndrome
Hereditary spastic paraplegia
Hereditary spastic paraplegia, x-linked
Hereditary spherocytosis
Hereditary thrombocytopenia with myelofibrosis
Hereditary thrombophilia
Heredodegenerative disorders, nervous system
Heritable pulmonary arterial hypertension
Hermansky-pudlak syndrome
Hermansky-pudlak syndrome with neutropenia
Hermansky-pudlak syndrome with pulmonary fibrosis
Hermansky-pudlak syndrome without pulmonary fibrosis
Hermaphroditism
Hernia of abdominal wall
Hernia, femoral
Heterotaxia
Heterotaxy, visceral
Heterotaxy, visceral, x-linked
Heterotopia
Hexadactyly
Hexosaminidase a deficiency
Heymann nephritis
Hiatal hernia
Hibernation, myocardial
Hibernoma
Hidradenitis suppurativa
Hidrotic ectodermal dysplasia
High altitude pulmonary edema
High bone mass osteogenesis imperfecta
High grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement
High grade lymphoma
High grade surface osteosarcoma
High molecular weight kininogen deficiency
High myopia-sensorineural deafness syndrome
High palate
High-frequency sensorineural hearing impairment
Hip contracture
Hip dysplasia
Hirschsprung disease
Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hirschsprung disease-ganglioneuroblastoma syndrome
Histidine transport defect
Histidinemia
Histiocytic medullary reticulosis
Histiocytoid cardiomyopathy
Histiocytoma
Histiocytosis
Histiocytosis haematophagic
Histiocytosis with joint contractures and sensorineural deafness
Hmg coa lyase deficiency
Hodgkin disease
Hodgkin lymphoma
Hodgkin lymphoma, lymphocyte depletion
Holocarboxylase synthetase deficiency
Holoprosencephaly
Holoprosencephaly, ectrodactyly, and bilateral cleft lip-palate
Holt-oram syndrome
Homocarnosinase deficiency
Homocarnosinosis
Homocystinuria
Homocystinuria-megaloblastic anemia
Homozygous hypercholesterolemia
Homozygous variegate porphyria
Honeycomb lung
Horizontal gaze palsy with progressive scoliosis
Horizontal nystagmus
Horizontal pendular nystagmus
Horner syndrome
Horseshoe kidney
Hot water reflex epilepsy
Howell-jolly bodies
Hoyeraal-hreidarsson syndrome
Hsd10 disease
Human hoxa1 syndromes
Humerofemoral hypoplasia with radiotibial ray deficiency
Humoral hypercalcemia of malignancy
Hunter`s syndrome
Huntington disease
Huntington disease-like
Huriez syndrome
Hurler syndrome
Hurler-scheie syndrome
Hutchinson-gilford syndrome
Hyaline body myopathy
Hyaline fibromatosis syndrome
Hyaline membrane disease
Hyalinosis
Hyaluronidase deficiency
Hydatidiform mole
Hydranencephaly
Hydranencephaly and abnormal genitalia
Hydranencephaly with renal aplasia-dysplasia
Hydrocephalus
Hydrocephalus ex-vacuo
Hydrocephalus syndrome, x-linked
Hydrocephalus with stenosis of the aqueduct of sylvius
Hydrocephalus, congenital, with or without brain or eye anomalies
Hydrocephalus, x-linked, with congenital idiopathic intestinal pseudoobstruction
Hydrolethalus syndrome
Hydrometrocolpos
Hydronephrosis
Hydropic placenta
Hydrops fetalis
Hydrops, lactic acidosis, and sideroblastic anemia
Hydroxykynureninuria
Hydroxymethylbilane synthase deficiency
Hyper-ige syndrome
Hyper-igm immunodeficiency syndrome
Hyper-igm immunodeficiency, with hypohidrotic ectodermal dysplasia
Hyper-igm immunodeficiency, x-linked, with hypohidrotic ectodermal dysplasia
Hyper-igm syndrome
Hyper-igm syndrome, x-linked
Hyper-immunoglobulin e syndrome
Hyperaldosteronism
Hyperalphalipoproteinemia
Hyperammonemia
Hyperammonemic encephalopathy
Hyperandrogenism
Hyperbilirubinemia
Hyperbiliverdinemia
Hypercalcemia
Hypercalciuria
Hypercarotenemia and vitamin a deficiency
Hyperchloremia
Hypercholanemia
Hypercholesterolemia
Hyperchylomicronemia with hyperprebetalipoproteinemia
Hypercoagulability syndrome
Hypercortisolism
Hyperekplexia
Hyperekplexia-epilepsy syndrome
Hyperemia
Hypereosinophilia
Hypereosinophilic syndrome
Hypergammaglobulinemia
Hyperglucagonemia
Hyperglycemia
Hyperglycinemia
Hyperglycinemia, lactic acidosis, and seizures
Hyperglycinuria
Hyperhidrosis palmaris et plantaris
Hyperhomocysteinemia
Hyperimmunoglobulin m syndrome
Hyperimmunoglobulinemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hyperinsulinism-hyperammonemia syndrome
Hyperisoleucinemia
Hyperkalemic periodic paralysis
Hyperkeratosis
Hyperkeratosis pilaris
Hyperkeratosis with erythema
Hyperkeratosis, epidermolytic
Hyperlipidemia
Hyperlipoproteinemia
Hyperlipoproteinemia and atherosclerosis
Hyperlysinemia
Hypermagnesemia
Hypermanganesemia with dystonia
Hypermanganesemia with dystonia polycythemia and cirrhosis
Hypermethioninemia
Hypermethioninemia encephalopathy
Hypermobility syndrome
Hypernatriuria
Hyperopia
Hyperopic astigmatism
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperostosis
Hyperostosis of skull
Hyperoxaluria
Hyperparathyroidism
Hyperparathyroidism-jaw tumor syndrome
Hyperpepsinogenemia
Hyperphenylalaninemia
Hyperphosphatasemia with bone disease
Hyperphosphatasia with mental retardation
Hyperphosphatemia
Hyperphosphatemic tumoral calcinosis
Hyperpigmentation
Hyperpipecolic acidemia
Hyperplastic colonic polyposis
Hyperplastic polyposis syndrome
Hyperpotassemia and hypertension
Hyperproinsulinemia
Hyperprolactinemia
Hyperprolinemia
Hyperproteinemia
Hypersexuality
Hypersomnia
Hypersomnia with periodic respiration
Hypersplenism
Hypertelorism syndrome
Hypertelorism with midface prominence, myopia, mental retardation, and bone fragility
Hypertension
Hypertension associated with pheochromocytoma
Hypertension with exacerbation in pregnancy
Hypertensive nephropathy
Hypertensive retinopathy
Hyperthyroidism
Hyperthyroidism gestational
Hyperthyroxinemia
Hyperthyroxinemia, dysalbuminemic
Hypertonic dehydration
Hypertonic myofibrillar myopathy
Hypertrichosis
Hypertrichosis-acromegaloid facial appearance syndrome
Hypertrichotic osteochondrodysplasia
Hypertriglyceridemia
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy and renal tubular disease
Hypertrophic osteoarthropathy
Hypertrophic pyloric stenosis
Hypertrophic subaortic stenosis
Hypertrophy of clitoris
Hypertrophy of nail
Hypertrophy of parotid gland
Hypertrophy of tonsils
Hypertryptophanemia
Hypertyrosinemia
Hyperuricemia
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperuricemic nephropathy
Hyperzincemia and hypercalprotectinemia
Hypoactive sexual desire disorder
Hypoadiponectinemia
Hypoadrenocorticism
Hypoalbuminemia
Hypoaldosteronism
Hypoalphalipoproteinemia
Hypoammonemia
Hypobetalipoproteinemia
Hypocalcemia
Hypocalcemia with bartter syndrome
Hypocalcemic seizures
Hypocalcemic tetany
Hypocalcemic vitamin d-dependent rickets
Hypocalcemic vitamin d-resistant rickets
Hypocalcification of dental enamel
Hypocalcified amelogenesis imperfecta
Hypocalciuric hypercalcemia
Hypochloremia
Hypocholesterolemia
Hypochondrogenesis
Hypochondroplasia
Hypochromic anemia
Hypochromic microcytic anemia
Hypocomplementemic urticarial vasculitis
Hypocupremia
Hypodontia
Hypodontia and nail dysgenesis
Hypodontia oligodontia with orofacial cleft
Hypodysfibrinogenemia
Hypofibrinogenemia
Hypogammaglobulinemia
Hypoglycemia
Hypoglycemic coma
Hypoglycemic encephalopathy
Hypoglycemic seizures
Hypogonadism
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism with or without anosmia
Hypohidrosis
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia, x-linked
Hypoinsulinemia
Hypoinsulinemic hypoglycemia and hemihypertrophy
Hypokalemia
Hypokalemic periodic paralysis
Hypomagnesemia
Hypomagnesemia renal, with ocular involvement
Hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Hypomagnesemia with hypocalciuria
Hypomagnesemia with normocalciuria and normocalcemia
Hypomagnesemia with secondary hypocalcemia
Hypomagnesemia, seizures, and mental retardation
Hypomaturation amelogenesis imperfecta
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Hypomineralization of enamel of tooth
Hypomyelinating leukodystrophy
Hypomyelinating leukodystrophy with or without oligodontia and/or hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Hypomyelination and congenital cataract
Hypomyelination neuropathy-arthrogryposis syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brainstem and spinal cord involvement and leg spasticity
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypoparathyroidism
Hypoparathyroidism-deafness-renal disease syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypopharyngeal carcinoma
Hypophosphatasia
Hypophosphatemia with nephrolithiasis or osteoporosis
Hypophosphatemia, x-linked
Hypophosphatemic rickets
Hypophosphatemic rickets with hypercalciuria, hereditary
Hypophosphatemic vitamin d refractory rickets, x-linked
Hypopigmentation disorder
Hypopigmentation-immunodeficiency disease
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypopituitarism
Hypopituitarism and septooptic dysplasia
Hypoplasia of corpus callosum
Hypoplasia of iris
Hypoplasia of lower limb
Hypoplasia of lymphatic vessels
Hypoplasia of mandible relative to maxilla
Hypoplasia of nipple
Hypoplasia of optic disc
Hypoplasia of rib
Hypoplasia of spine
Hypoplasia of teeth
Hypoplasia of the epiglottis
Hypoplasia of the maxilla
Hypoplasia of the olfactory bulb
Hypoplasia of the optic nerve
Hypoplasia of the ovary
Hypoplasia of the pituitary gland
Hypoplasia of the retina
Hypoplasia of thumb
Hypoplasia of vagina
Hypoplasminogenemia
Hypoplastic amelogenesis imperfecta
Hypoplastic anemia
Hypoplastic aortic arch
Hypoplastic enamel-onycholysis-hypohidrosis syndrome
Hypoplastic heart syndrome
Hypoplastic hippocampus
Hypoplastic left heart syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Hypoplastic tibia and postaxial polydactyly syndrome
Hypoplastic tricuspid valve
Hypoprebetalipoproteinemia
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypoproteinemia
Hypoproteinemia, hypercatabolic
Hypoprothrombinemia
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Hypospadias
Hypospadias, x-linked
Hypothalamic hamartomas
Hypothalamic hypothyroidism
Hypothyroidism
Hypothyroidism, central, and testicular enlargement
Hypothyroidism, thyroidal, with spiky hair and cleft palate
Hypotonia
Hypotonia with lactic acidemia and hyperammonemia
Hypotonia, ataxia, and delayed development syndrome
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, with psychomotor retardation
Hypotonia, with psychomotor retardation and characteristic facies
Hypotonia-cystinuria syndrome
Hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Hypotonia-seizures-encephalopathy syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotonic seizures
Hypotrichosis
Hypotrichosis and recurrent skin vesicles
Hypotrichosis simplex
Hypotrichosis simplex of the scalp
Hypotrichosis with macular degeneration
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Hypotriglyceridemia
Hypotropia
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxic-ischemic encephalopathy
Hystrix-like ichthyosis with deafness
Ichthyosis
Ichthyosis bullosa of siemens
Ichthyosis congenita
Ichthyosis exfoliativa
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Ichthyosis hystrix
Ichthyosis prematurity syndrome
Ichthyosis vulgaris
Ichthyosis with epidermolytic hyperkeratosis
Ichthyosis with hypotrichosis
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis, spastic quadriplegia, and mental retardation
Ichthyosis, x-linked
Ichthyosis-hypotrichosis syndrome
Ichthyosis-prematurity syndrome
Ichthyosis-sclerosing cholangitis syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Idiopathic achalasia
Idiopathic hypercatabolic hypoproteinemia
Idiopathic ventricular fibrillation
Ifn-gamma receptor 1 deficiency
Ige responsiveness, atopic
Igf-i resistance
Igg deficiency disorder
Ileitis
Ileocolitis
Ileus
Image syndrome
Imerslund-grasbeck syndrome
Iminoglycinuria
Immune complex diseases
Immune disorders, nervous system
Immune dysfunction with t-cell inactivation
Immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome
Immune hydrops fetalis
Immune system diseases
Immune thrombocytopenia
Immune thrombocytopenic purpura
Immunodeficiency
Immunodeficiency 11b with atopic dermatitis
Immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Immunodeficiency with factor h anomaly
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Immunodeficiency with neurologic abnormalities
Immunodeficiency without anhidrotic ectodermal dysplasia
Immunodeficiency, developmental delay, and hypohomocysteinemia
Immunodeficiency, scid variant
Immunodeficiency, with basal ganglia calcification
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunoglobulin a deficiency
Immunoglobulin deficiency
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Immunologic deficiency syndromes
Immunoskeletal dysplasia with neurodevelopmental abnormalities
Impaired cognition
Impaired myocardial contractility
Impaired social reciprocity
Imperforate anus
Impervious ureter
Impulse control disorder
Impulse-ridden personality
Inadequate personality
Inappropriate acth secretion syndrome
Inborn disorder of purine metabolism
Inborn disorder of purine or pyrimidine metabolism
Inborn errors of carbohydrate metabolism
Inborn errors of metabolism
Inclusion body myopathy
Inclusion body myopathy with paget disease and frontotemporal dementia
Inclusion body myopathy with paget disease with or without frontotemporal dementia
Inclusion body myositis
Inclusion-body disease
Incomplete anencephaly, hemicrania
Incontinentia pigmenti achromians
Incontinentia pigmenti syndrome
Increased analgesia from kappa-opioid receptor agonist, female-specific
Indolent systemic mastocytosis
Industrial dermatosis
Infantile convulsions and choreoathetosis
Infantile refsum disease
Infantile spasms
Inferior lens subluxation
Infertility associated with multi-tailed spermatozoa and excessive dna
Infiltrating duct carcinoma of female breast
Inflammatory abnormality of the eye
Inflammatory bowel disease
Inflammatory bowel disease with neurological involvement
Inflammatory demyelinating polyneuropathy
Inflammatory demyelinating polyradiculoneuropathy
Inflammatory linear verrucous epidermal nevus
Inflammatory myofibroblastic tumor
Inflammatory myopathy
Inflammatory skin and bowel disease
Inguinal hernia
Inherited bone marrow failure syndrome
Inherited cancer-predisposing syndrome
Inherited errors of amino acid metabolism
Inherited factor ii deficiency
Inherited isolated adrenal insufficiency
Inherited peripheral neuropathy
Inosine triphosphatase deficiency
Insomnia
Insufficient sleep syndrome
Insulin resistance syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-like growth factor i deficiency
Insulin-resistant diabetes mellitus
Insulinoma
Intellectual developmental disorder
Intellectual developmental disorder and retinitis pigmentosa
Intellectual developmental disorder with autism and speech delay
Intellectual developmental disorder with cardiac arrhythmia
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Intellectual developmental disorder with dysmorphic facies and ptosis
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Intellectual developmental disorder with hypertelorism and distinctive facies
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Intellectual developmental disorder with neuropsychiatric features
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Intellectual developmental disorder with persistence of fetal hemoglobin
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual disability and progressive spastic diplegia
Intellectual disability microcephaly-midline stereotypic hand movements syndrome
Intellectual disability with growth hormone deficiency, x-linked
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac arrhythmia syndrome
Intellectual disability-cardiomegaly-congestive heart failure syndrome, x-linked
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Intellectual disability-cerebellar hypoplasia syndrome, x-linked
Intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, x-linked
Intellectual disability-chondrodysplasia syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Intellectual disability-craniofacial anomalies-cardiac defects syndrome
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome, x-linked
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism syndrome
Intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome, x-linked
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome, x-linked
Intellectual disability-hypotonia-movement disorder syndrome, x-linked
Intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome, x-linked
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Intellectual disability-neurodevelopmental disorder
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Intellectual disability-psychosis-macroorchidism syndrome, x-linked
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Intellectual disability-short stature-overweight syndrome, x-linked
Intellectual disability-sleep disturbance syndrome
Intellectual disability-strabismus syndrome
Interferon gamma receptor deficiency
Interfrontal craniofaciosynostosis
Interleukin 1 receptor antagonist deficiency
Interleukin 2 receptor deficiency
Interleukin-7 receptor alpha deficiency
Intermediate coronary syndrome
Intermediate grade lymphoma
Intermittent explosive disorder
Intermittent hydrarthrosis
Intermittent joint effusion
Intermittent lactic acidemia
Intermittent porphyria
Internal carotid artery stenosis
Internal carotid artery thrombosis
Interrupted aortic arch
Interrupted inferior vena cava with azygous continuation
Interstitial cystitis
Interstitial lung and liver disease
Interstitial lung disease
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa,
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Interstitial nephritis
Intervertebral disc degeneration
Intervertebral disc disorder
Intervertebral disk displacement
Intestinal atresia
Intestinal cancer
Intestinal carcinoid
Intestinal diseases
Intestinal epithelial dysplasia
Intestinal hypomagnesemia
Intestinal lymphatic obstruction
Intestinal neoplasms
Intestinal obstruction
Intestinal perforation
Intestinal polyposis
Intestinal pseudoobstruction
Intestinal pseudoobstruction, neuronal, x-linked
Intestinal volvulus
Intracardiac myxoma
Intracranial aneurysm
Intracranial arteriovenous malformation
Intracranial astrocytoma
Intracranial embolism and thrombosis
Intracranial hypertension
Intracranial meningioma
Intracranial neoplasm
Intracranial sinus thrombophlebitis
Intracranial thrombosis
Intracranial vasospasm
Intraepithelial neoplasia
Intrahepatic cholangiocarcinoma
Intrahepatic cholestasis
Intrahepatic cholestasis of pregnancy
Intrahepatic cholestasis with episodic jaundice
Intraorbital meningioma
Intraosseous venous malformation
Intrauterine growth restriction, congenital multiple caf -au-lait macules-increased sister chromatid exchange syndrome
Intrauterine growth restriction-short stature- diabetes syndrome
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Intravascular hemolysis
Intravascular large b-cell lymphoma
Intraventricular meningioma
Intrinsic factor deficiency
Intussusception
Invasive duct and lobular carcinoma
Involutional depression
Involutional paraphrenia
Irak4 deficiency
Irida syndrome
Iridocyclitis
Iridodonesis
Iridogoniodysgenesis
Iris hypoplasia with glaucoma
Iris melanoma
Iritis
Iron deficiency anemia
Iron metabolism disorders
Iron overload
Irritable bowel syndrome
Isaacs syndrome
Ischemic encephalopathy
Ischemic myocardial dysfunction
Ischemic optic neuropathy
Ischemic stroke
Ischiovertebral syndrome
Islet cell adenomatosis
Islet cell tumor
Isobutyryl-coa dehydrogenase deficiency
Isodicentric chromosome 15 syndrome
Isolated anencephaly
Isolated asymptomatic elevation of creatine phosphokinase
Isolated atp synthase deficiency
Isolated bone marrow mastocytosis
Isolated complex i deficiency
Isolated complex iii deficiency
Isolated congenital adermatoglyphia
Isolated congenital anosmia
Isolated congenitally uncorrected transposition of the great arteries
Isolated cytochrome c oxidase deficiency
Isolated dandy-walker malformation with hydrocephalus
Isolated dandy-walker malformation without hydrocephalus
Isolated delta-storage pool disease
Isolated ectopia lentis
Isolated exencephaly
Isolated focal cortical dysplasia
Isolated focal non-epidermolytic palmoplantar keratoderma
Isolated follicle stimulating hormone deficiency
Isolated generalized anhidrosis with normal sweat glands
Isolated growth hormone deficiency
Isolated hyperchlorhidrosis
Isolated keratoconus
Isolated klippel-feil syndrome
Isolated lutropin deficiency
Isolated megalencephaly
Isolated microphthalmia, with cataract
Isolated microphthalmia-anophthalmia-coloboma
Isolated osteopoikilosis
Isolated right ventricular hypoplasia
Isolated sclerosing cholangitis
Isolated sedoheptulokinase deficiency
Isolated somatotropin deficiency
Isolated split hand-split foot malformation
Isolated succinate-coq reductase deficiency
Isolated sulfite oxidase deficiency
Isolated thyroid-stimulating hormone deficiency
Isolated thyrotropin-releasing hormone deficiency
Isothenuria
Isovaleric acidemia
Isovaleryl-coa dehydrogenase deficiency
Jaberi-elahi syndrome
Jackknife seizures
Jackson-weiss syndrome
Jacksonian seizure
Jacobsen syndrome
Jalili syndrome
Jankovic rivera syndrome
Jarcho-levin syndrome
Jaundice
Jaw abnormalities
Jawad syndrome
Jejunal atresia
Jejunal atresia with microcephaly and ocular anomalies
Jensen syndrome
Jervell-lange nielsen syndrome
Jeune syndrome
Jeune thoracic dystrophy
Johanson-blizzard syndrome
Joint laxity, short stature, and myopia
Joubert syndrome
Joubert syndrome with congenital hepatic fibrosis
Joubert syndrome with hepatic defect
Joubert syndrome with jeune asphyxiating thoracic dystrophy
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect
Joubert syndrome with renal defect
Joubert syndrome, digenic
Juberg-marsidi syndrome
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa gravis of herlitz
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa with pyloric atresia
Junctional split
Juvenile arthritis
Juvenile nephropathic cystinosis
Juvenile polyposis syndrome
Kabuki syndrome
Kagami-ogata syndrome
Kahrizi syndrome
Kallmann syndrome
Kaposi sarcoma
Kaposiform hemangioendothelioma
Kappa-chain deficiency
Karak syndrome
Kartagener syndrome
Karyomegalic interstitial nephritis
Kashin-beck disease
Kaufman oculocerebrofacial syndrome
Kaufman-mckusick syndrome
Kawasaki disease
Kayser-fleischer ring
Kbg syndrome
Kearns sayre syndrome
Keipert syndrome
Kennedy disease
Kenny-caffey syndrome
Keppen-lubinsky syndrome
Keratitis
Keratitis fugax hereditaria
Keratitis ichthyosis and deafness syndrome
Keratitis, hereditary
Keratoconjunctivitis
Keratoconjunctivitis sicca
Keratoconus
Keratocystic odontogenic tumor
Keratoderma hereditarium mutilans
Keratoderma hereditarium mutilans with ichthyosis
Keratoderma palmoplantar spastic paralysis
Keratoderma with deafness
Keratoderma with scleroatrophy of the extremities
Keratolytic winter erythema
Keratoma
Keratomalacia
Keratosis
Keratosis blennorrhagica
Keratosis follicularis
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
Keratosis pilaris
Kernicterus
Ketoacidosis
Ketonuria
Ketosis
Keutel syndrome
Kid syndrome
Kidney cancer
Kidney disease
Kidney failure
Kidney neoplasm
Kidney stone
Kienbock disease
Kindler epidermolysis bullosa
King denborough syndrome
Kleefstra syndrome
Kleine-levin syndrome
Klein`s syndrome
Klippel feil syndrome
Klippel-feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-feil syndrome with nemaline myopathy and facial dysmorphism
Klippel-trenaunay-weber syndrome
Knee osteoarthritis
Kniest dysplasia
Knobloch syndrome
Knuckle pads, deafness and leukonychia syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Kohlschutter syndrome
Koolen-de vries syndrome
Korsakoff psychosis
Kosaki overgrowth syndrome
Kostmann syndrome
Kowarski syndrome
Krabbe disease
Krause-kivlin syndrome
Kufor-rakeb syndrome
Kuru
Kuskokwim syndrome
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliotic ehlers-danlos syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
L-2-hydroxyglutaric acidemia
L-arginine:glycine amidinotransferase deficiency
L-ferritin deficiency
Lacrimal apparatus diseases
Lacrimal duct aplasia
Lacrimal mucocele
Lacrimoauriculodentodigital syndrome
Lactase non-persistence
Lactate dehydrogenase b deficiency
Lactic acidosis
Lactose intolerance
Lafora disease
Lagopthalmos
Lamb-shaffer syndrome
Lambdoid synostosis
Lambert-eaton myasthenic syndrome
Lamellar ichthyosis
Landau-kleffner syndrome
Langer mesomelic dysplasia syndrome
Langer-giedion syndrome
Langerhans cell histiocytosis
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
Language development disorders
Language disorders
Large congenital melanocytic nevus
Large intestinal polyposis
Laron syndrome
Larsen syndrome
Larsen-like syndrome
Laryngeal calcification
Laryngeal carcinoma
Laryngeal cleft
Laryngeal dystonia
Laryngeal hypoplasia
Laryngeal neoplasm
Laryngeal web
Laryngomalacia
Laryngoonychocutaneous syndrome
Laryngospasm
Laryngostenosis
Larynx cancer
Lateral medullary syndrome
Lateral meningocele syndrome
Lateral sclerosis
Lathosterolosis
Lattice corneal dystrophy
Laurence-moon syndrome
Laurin-sandrow syndrome
Lcat deficiency
Learning disorders
Leber congenital amaurosis
Leber hereditary optic neuropathy
Leber plus disease
Lecithin acyltransferase deficiency
Left anterior fascicular block
Left atrial isomerism
Left bundle-branch block
Left posterior fascicular block
Left ventricular hypertrophy
Left ventricular noncompaction
Legg-calve-perthes disease
Legionnaires` disease
Legius syndrome
Leigh syndrome
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Leigh syndrome with nephrotic syndrome
Leiomyoma
Leiomyosarcoma
Leiomyosarcoma of uterus
Lennox-gastaut syndrome
Lens coloboma
Lens subluxation
Lenticonus
Lenticulostriate disorders
Lenticulostriate vasculopathy
Lentiginosis profusa
Lentiglobus
Lentigo maligna melanoma
Lenz-majewski hyperostosis syndrome
Leopard syndrome
Leprechaunism syndrome
Leprosy
Leptin deficiency or dysfunction
Leptin receptor deficiency
Leri-weill dyschondrosteosis
Lesch-nyhan syndrome
Lesion of sciatic nerve
Lesions in the basal ganglia
Lethal acantholytic erosive disorder
Lethal arteriopathy syndrome
Lethal arthrogryposis with anterior horn cell disease
Lethal ataxia with deafness and optic atrophy
Lethal brain and heart developmental defects
Lethal congenital contracture syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Lethal hypophosphatasia
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Lethal microcephaly
Lethal multiple pterygium syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Lethal osteochondrodysplasia
Lethal polymalformative syndrome
Lethal spasticity-epileptic encephalopathy syndrome
Lethal tight skin contracture syndrome
Leukemia
Leukemia of ambiguous lineage
Leukemia, megakaryoblastic, of down syndrome
Leukemoid reaction
Leukocoria
Leukocyte adhesion deficiency
Leukocyte disorders
Leukocytoclastic vasculitis
Leukodystrophy
Leukodystrophy and acquired microcephaly with or without dystonia
Leukoencephalopathy
Leukoencephalopathy syndrome
Leukoencephalopathy with ataxia
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with dystonia and motor neuropathy
Leukoencephalopathy with metaphyseal chondrodysplasia
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Leukoencephalopathy with peripheral neuropathy
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy, brain calcifications, and cysts
Leukoencephalopathy, cystic, without megalencephaly
Leukoencephalopathy, with ovarian failure
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukokeratosis
Leukonychia totalis
Leukopenia
Leukoplakia
Leukostasis
Leukotriene c4 synthase deficiency
Lewy body disease
Leydig cell agenesis
Leydig cell hypoplasia
Leydig cell tumor
Lhermitte-duclos disease
Li-fraumeni syndrome
Lichen amyloidosis
Lichen planopilaris
Lichenoid eruptions
Lichtenstein-knorr syndrome
Liddle syndrome
Lig4 syndrome
Ligneous conjunctivitis
Limb amyotrophy
Limb apraxia
Limb muscle atrophy
Limb-girdle muscle atrophy
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy-dystroglycanopathy
Limb-mammary syndrome
Limb-onset dystonia
Limbal stem cell deficiency
Limbic encephalitis with lgi1 antibodies
Limit-setting sleep disorder
Limited systemic sclerosis
Linear scleroderma
Linear skin defects with multiple congenital anomalies
Linear verrucous epidermal nevus
Linitis plastica
Lip and oral cavity carcinoma
Lip carcinoma
Lipase maturation factor 1 deficiency
Lipid metabolism disorders
Lipid metabolism, inborn errors
Lipid storage myopathy
Lipidemia retinalis
Lipoatrophic diabetes mellitus
Lipoatrophy
Lipoblastoma
Lipoblastomatosis
Lipodystrophic laminopathy
Lipodystrophy
Lipogranuloma
Lipoic acid synthetase deficiency
Lipoid congenital adrenal hyperplasia
Lipoid nephrosis
Lipoid proteinosis
Lipoidosis
Lipoma
Lipoma of corpus callosum
Lipomatosis
Lipomucopolysaccharidosis
Lipoprotein glomerulopathy
Lipoprotein lipase deficiency
Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
Liposarcoma
Lipoyltransferase deficiency
Lissencephaly
Lissencephaly with cerebellar hypoplasia
Lissencephaly with complex brainstem malformation
Lissencephaly with microcephaly
Lissencephaly, x-linked
Liver cancer
Liver carcinoma
Liver cirrhosis
Liver cyst
Liver failure
Liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Liver failure-multisystemic involvement syndrome
Liver fibrosis
Liver neoplasms
Lobar holoprosencephaly
Lobstein disease
Localized cutaneous amyloidosis
Loeffler`s endocarditis
Loeys-dietz syndrome
Long chain 3-hydroxyacyl-coa dehydrogenase deficiency
Long qt syndrome
Long qt syndrome digenic
Long-segment aganglionic megacolon
Longitudinal deficiency of radius
Loose anagen hair syndrome
Lopes-maciel-rodan syndrome
Low anorectal malformation
Low grade lymphoma
Low tension glaucoma
Low-frequency hearing loss
Lower extremity deformities
Lowry wood syndrome
Lucey-driscoll syndrome
Luft disease
Lujan-fryns syndrome
Lumbar disc disease
Lumbar scoliosis
Lumbosacral agenesis
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Lung adenocarcinoma
Lung agenesis
Lung cancer
Lung carcinoma
Lung disease, immunodeficiency, and chromosome breakage syndrome
Lung diseases
Lung neoplasms
Lupus anticoagulant
Lupus erythematosus
Lupus meningoencephalitis
Lupus nephritis
Lupus vulgaris
Luscan-lumish syndrome
Luteinizing hormone resistance, female
Lymphadenitis
Lymphangioma
Lymphangiomyomatosis
Lymphatic malformation
Lymphatic metastasis
Lymphatic vessel tumors
Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema-distichiasis syndrome
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
Lymphedema-posterior choanal atresia syndrome
Lymphoblastic leukemia
Lymphoblastic leukemia with lymphomatous features
Lymphocytic leukemia
Lymphocytosis
Lymphohistiocytosis
Lymphoid leukemia
Lymphoma
Lymphoma, lymphocytic, intermediate
Lymphomatoid papulosis
Lymphopenia
Lymphoproliferative disorder
Lymphoproliferative disorder of natural killer cells
Lymphoproliferative syndrome
Lymphoproliferative syndrome, x-linked
Lynch syndrome
Lysine alpha-ketoglutarate reductase deficiency disease
Lysinuric protein intolerance
Lysosomal beta-mannosidase deficiency
Machado-joseph disease
Macinnes syndrome
Macrocephaly
Macrocephaly and epileptic encephalopathy
Macrocephaly autism syndrome
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Macrocephaly, alopecia, cutis laxa, and scoliosis
Macrocephaly, dysmorphic facies, and psychomotor retardation
Macrocephaly, macrosomia, and facial dysmorphism syndrome
Macrocephaly, with impaired intellectual development
Macrocephaly-developmental delay syndrome
Macrocephaly-intellectual disability-autism syndrome
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Macrocytic anemia
Macrocytosis
Macrodactyly
Macrodactyly of toe
Macrodactyly, somatic
Macrodontia
Macroglossia
Macrophage activation syndrome
Macrophthalmia, colobomatous, with microcornea
Macroprolactinoma
Macrostomia
Macrothrombocytopenia
Macrothrombocytopenia and progressive sensorineural deafness
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Macrothrombocytopenia-stomatocytosis
Macrotia
Macular amyloidosis
Macular corneal dystrophy
Macular degeneration
Macular degeneration, x-linked
Macular dystrophy
Macular dystrophy with central cone involvement
Macular dystrophy, patterned
Macular dystrophy, vitelliform
Macular edema
Madarosis of eyebrow
Madelung deformity
Maffucci syndrome
Magnesium deficiency
Majeed syndrome
Majewski syndrome
Major affective disorder
Malabsorption syndrome
Malan overgrowth syndrome
Malattia leventinese
Male germ cell tumor
Male infertility
Male infertility with teratozoospermia
Male pseudohermaphroditism
Male sexual dysfunction
Male-limited precocious puberty
Malformation of cortical development
Maligant granulosa cell tumor of ovary
Maligant granulosa cell tumor of the ovary
Malignant bone neoplasm
Malignant catatonia
Malignant epithelial tumor of salivary glands
Malignant gastrointestinal tract tumors
Malignant histiocytoma
Malignant hypertension
Malignant lymphoma, lymphocytic, intermediate differentiation
Malignant mediastinal neoplasm
Malignant melanoma
Malignant melanoma of skin
Malignant meningioma
Malignant mesothelioma
Malignant migrating partial seizures of infancy
Malignant neoplasm
Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of floor of mouth
Malignant neoplasm of lateral wall of oropharynx
Malignant neoplasm of lip and oral cavity
Malignant neoplasm of mouth
Malignant neoplasm of oropharynx
Malignant neoplasm of salivary gland
Malignant neoplasm of spleen
Malignant neoplasm of testis
Malignant neoplasm of the central nervous system
Malignant neoplasm of thymus
Malignant neoplasm of tongue
Malignant neoplasm of ureter
Malignant osteopetrosis
Malignant ovarian germ cell neoplasm
Malignant peripheral nerve sheath tumor
Malignant pharyngeal neoplasm
Malignant prostate phyllodes tumor
Malignant rhabdoid tumor
Malignant sertoli-leydig cell tumor of the ovary
Malignant testicular germ cell tumor
Malignant tumor of lateral floor of mouth
Malignant tumor of posterior wall of oropharynx
Malignant uterine corpus neoplasm
Malignant vaginal neoplasm
Mallet finger
Malnutrition
Malocclusion
Malouf syndrome
Malpuech facial clefting syndrome
Malrotation of colon
Malrotation of kidney
Malt lymphoma
Mammary neoplasms
Mandibular aplasia
Mandibular diseases
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome
Mandibular neoplasms
Mandibular osteomyelitis
Mandibuloacral dysostosis
Mandibuloacral dysplasia with lipodystrophy
Mandibulofacial dysostosis
Mandibulofacial dysostosis with alopecia
Mandibulofacial dysostosis with mental retardation
Mandibulofacial dysostosis-microcephaly syndrome
Manic disorder
Mannose-binding protein deficiency
Mantle cell lymphoma
Maple syrup urine disease
Marden walker like syndrome
Marden-walker syndrome
Marfan lipodystrophy syndrome
Marfan syndrome
Marginal corneal dystrophy
Marginal periodontitis
Marginal ulcer
Marie cerebellar ataxia
Marie unna hypotrichosis
Marinesco-sjogren syndrome
Marles greenberg persaud syndrome
Marshall syndrome
Marshall-smith syndrome
Marsili syndrome
Martin-probst deafness-mental retardation syndrome
Martinez-frias syndrome
Martsolf syndrome
Masa syndrome
Mason type diabetes
Masp2 deficiency
Mass syndrome
Mast cell leukemia
Mast syndrome
Mastocytoma
Mastocytosis
Mastoiditis
Maternal hypertension
Maternal phenylketonuria
Maternal riboflavin deficiency
Maternally inherited leigh syndrome
Matthew-wood syndrome
Mauriac`s syndrome
Maxillary diseases
Maxillary neoplasms
Maxillofacial abnormalities
May-white syndrome
Mazabraud syndrome
Mccune-albright syndrome
Mckusick-kaufman syndrome
Mcleod neuroacanthocytosis syndrome
Meacham syndrome
Meckel diverticulum
Meckel syndrome
Meckel-gruber syndrome
Meckel-like syndrome
Meconium ileus
Mediastinal b-cell lymphoma
Mediastinal lymphadenopathy
Mediastinal neoplasms
Mediastinal tumor
Medium chain acyl-coa dehydrogenase deficiency
Mednik syndrome
Medullary cystic kidney disease
Medullary neoplasms
Medullary nephrocalcinosis
Medullary thyroid carcinoma
Medulloblastoma
Medulloblastoma with extensive nodularity
Medulloepithelioma
Medullomyoblastoma
Meesmann corneal dystrophy
Meester-loeys syndrome
Mega corpus callosum syndrome with cerebellar hyoplasia and cortical malformations
Megaconial congenital muscular dystrophy
Megaconial myopathies
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Megaduodenum
Megaepiphyseal dwarfism
Megaesophagus
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Megakaryoblastic leukemia in down syndrome
Megakaryoblastic leukemia without down syndrome
Megakaryocytic leukemia
Megalanecephaly polymicrogyria-polydactyly hydrocephalus syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts, with or without mental retardation
Megalencephaly
Megalencephaly cutis marmorata telangiectatica congenita
Megalencephaly kyphoscoliosis-overgrowth syndrome
Megalencephaly, polymicrogyria, polydactyly, hydrocephalus syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Megaloblastic anemia
Megalocytic interstitial nephritis
Megdel syndrome
Mehmo syndrome
Meibomian cyst
Meibomian gland dysfunction
Meier blumberg imahorn syndrome
Meier-gorlin syndrome
Melancholia
Melanocytic nevus
Melanoma
Melanoma and neural system tumor syndrome
Melanoma astrocytoma syndrome
Melanoma-pancreatic cancer syndrome
Melanosis
Melas syndrome
Melasma
Meleda disease
Melnick-fraser syndrome
Melnick-needles syndrome
Melorheostosis
Melorheostosis with osteopoikilosis
Membranous glomerulonephritis
Memory disorders
Mend syndrome
Mendelson syndrome
Meniere disease
Meningioma
Meningoencephalocele
Meningomyelocele
Meningothelial meningioma
Menkes disease
Menkes kinky hair syndrome
Mental depression
Mental depression with psychotic features
Mental disorders
Mental retardation
Mental retardation and distinctive facial features with or without cardiac defects
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation with epilepsy,x-linked
Mental retardation with language impairment and with or without autistic features
Mental retardation with psychosis, pyramidal signs, and macroorchidism
Mental retardation with spastic paraplegia
Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
Mental retardation, anterior maxillary protrusion, and strabismus
Mental retardation, x-linked
Mepan syndrome
Meretoja syndrome
Merkel cell carcinoma
Merosin deficient congenital muscular dystrophy
Merrf syndrome
Merrf/melas overlap syndrome
Mesangial sclerosis
Mesatipellic pelvis
Mesencephalic neoplasms
Mesenchymal chondrosarcoma
Mesenteric arterial embolus
Mesenteric arterial thrombosis
Mesenteric cyst
Mesenteric vascular insufficiency
Mesenteric vascular occlusion
Mesial temporal lobe epilepsy with cognitive regression
Mesial temporal lobe epilepsy with febrile seizures
Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesocardia
Mesomelia
Mesomelia-synostoses syndrome
Mesothelial neoplasms
Mesothelioma
Metabolic acidosis
Metabolic alkalosis
Metabolic bone disorder
Metabolic diseases
Metabolic disorder, central nervous system
Metabolic myopathy
Metabolic syndrome
Metachondromatosis
Metachromatic leukodystrophy
Metaphyseal anadysplasia
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia with retinitis pigmentosa
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
Metaphyseal dysplasia with maxillary hypoplasia, with or without brachydactyly
Metaphyseal dysplasia without hypotrichosis
Metaphyseal dysplasia-maxillary hypoplasia-brachydactly syndrome
Metastatic dermatofibrosarcoma protuberans
Metastatic melanoma
Metastatic prostate carcinoma
Metatropic dwarfism
Metatropic dysplasia
Methemoglobinemia
Methemoglobinemia and ambiguous genitalia
Methylcobalamin deficiency
Methylcrotonyl-coa carboxylase deficiency
Methylenetetrahydrofolate reductase deficiency
Methylmalonate semialdehyde dehydrogenase deficiency
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria
Methylmalonyl-coa epimerase deficiency
Metopic ridging-ptosis-facial dysmorphism syndrome
Metopic synostosis
Michelin tire baby syndrome
Micro syndrome
Microangiopathic hemolytic anemia
Microcephalic cortical malformations-short stature
Microcephalic osteodysplastic dysplasia
Microcephalic osteodysplastic primordial dwarfism
Microcephalic primordial dwarfism
Microcephalic primordial dwarfism-insulin resistance syndrome
Microcephaly
Microcephaly with chorioretinopathy
Microcephaly, congenital cataract, and psoriasiform dermatitis
Microcephaly, epilepsy, and diabetes syndrome
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Microcephaly, growth restriction, and increased sister chromatid exchange
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
Microcephaly, seizures, and developmental delay
Microcephaly, seizures, spasticity, and brain calcifications
Microcephaly, short stature, and impaired glucose metabolism
Microcephaly, short stature, and polymicrogyria with or without seizures
Microcephaly-capillary malformation syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Microcephaly-digital anomalies syndrome
Microcephaly-epilepsy-permanent diabetes syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Microcephaly-growth retardation-prognathism-cryptorchidism syndrome, x-linked
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-micromelia syndrome
Microcephaly-mild intellectual disability diabetes syndrome
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Microcephaly-progressive leukoencephalopathy
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Microcephaly-short stature-limb abnormalities syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcolon
Microcornea
Microcornea, myopic chorioretinal atrophy, and telecanthus
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome
Microcystic meningioma
Microcystic stromal tumor
Microcytic anemia
Microcytic anemia with liver iron overload
Microdontia
Microduplication xp11.22p11.23 syndrome
Microform holoprosencephaly
Microglossia
Micrognathism
Microhydranencephaly
Microlissencephaly
Micromelia
Micronodular cirrhosis
Micropenis
Microphakia
Microphthalmia
Microphthalmia with brain and digit anomalies
Microphthalmia with coloboma
Microphthalmia with limb anomalies
Microphthalmia with linear skin defects syndrome
Microphthalmia, cataracts, and iris abnormalities
Microphthalmia, with retinitis pigmentosa, foveoschisis, and optic disc drusen
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Microphthalmia/coloboma and skeletal dysplasia syndrome
Microphthalmos
Microphthalmos co-occurrent with congenital ocular coloboma
Microprolactinoma
Microspherocytosis
Microspherophakia
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Microstomia
Microtia
Microtia with or without hearing impairment
Microtia without hearing impairment
Microtia, hearing impairment, and cleft palate
Microvascular angina
Microvillus inclusion disease
Mid aortic syndrome
Midface capillary hemangioma
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midline central nervous system lipomas
Midline interhemispheric variant of holoprosencephaly
Migraine
Migraine with aura
Migraine, sporadic hemiplegic
Migrating partial seizures in infancy
Miles-carpenter x-linked mental retardation syndrome
Milk-alkali syndrome
Miller dieker syndrome
Miller syndrome
Milroy disease
Mineralocorticoid excess syndrome
Minicore myopathy with external ophthalmoplegia
Minimal brain dysfunction
Minimal pigment oculocutaneous albinism
Miosis disorder
Mirage syndrome
Mirror movements
Miscarriage
Mitchell-riley syndrome
Mitochondrial ataxia syndrome
Mitochondrial cardiomyopathy
Mitochondrial complex deficiency
Mitochondrial diseases
Mitochondrial dna deletion syndrome
Mitochondrial dna depletion syndrome
Mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial dna depletion syndrome, hepatocerebral
Mitochondrial dna depletion syndrome, myopathic
Mitochondrial electron transport chain deficiencies
Mitochondrial encephalo-cardio-myopathy
Mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy, x-linked
Mitochondrial encephalopathy
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis
Mitochondrial hypomagnesemia, hypertension, and hypercholesterolemia
Mitochondrial membrane protein-associated neurodegeneration
Mitochondrial myopathy
Mitochondrial myopathy and sideroblastic anemia
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with exercise intolerance
Mitochondrial myopathy with reversible cytochrome c oxidase deficiency
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial non-syndromic sensorineural deafness
Mitochondrial phosphate carrier deficiency
Mitochondrial pyruvate carrier deficiency
Mitochondrial respiratory chain deficiencies
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency
Mitochondrial spastic paraplegia
Mitochondrial trifunctional protein deficiency
Mitral valve dysplasia
Mitral valve prolapse
Mitral valve stenosis
Mixed anxiety and depressive disorder
Mixed astigmatism
Mixed demyelinating and axonal polyneuropathy
Mixed oligodendroglioma-astrocytoma
Mixed oligodendroglioma-ependymoma
Mixed phenotype leukemia
Mixed sclerosing bone dystrophy
Mixed tumor, mullerian
Miyoshi muscular dystrophy
Miyoshi myopathy
Mobius syndrome
Modifier of renal tsc2 angiomyolipomas
Moebius syndrome
Mohr syndrome
Mohr-tranebjaerg syndrome
Mole melanoma syndrome
Molybdenum cofactor deficiency
Mondini defect
Mongolian spot
Monilethrix
Monocarboxylate transporter 1 deficiency
Monoclonal gammapathies
Monoclonal immunoglobulin m proteinemia
Monocytic leukemia
Monocytosis
Monogenic diabetes
Monomelic amyotrophy
Mononeuropathies
Mononeuropathy of the median nerve
Monoplegia
Monoplegic cerebral palsy
Monorchism
Monosomy 13q14
Monosomy 22q13.3
Monosomy 3p
Monosomy 3p25
Monosomy 5p
Monosomy 5q35
Monosomy 8p23 1
Monosomy 9q22.3
Monostotic dysplasia
Mood disorder
Mood swings
Morbid obesity and spermatogenic failure
Morgagni diaphragmatic hernia
Morm syndrome
Morning glory anomaly
Morning glory syndrome
Morphea
Mosaic corneal dystrophy
Mosaic variegated aneuploidy
Motion sickness
Motor and cognitive regression syndrome with extrapyramidal movement disorder
Motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Motor and sensory neuropathy
Motor delay
Motor disorders
Motor manifestations
Motor nerve neuritis
Motor neuron atrophy
Motor neuron disease
Motor skills disorders
Motor tic disorders
Mountain sickness
Mouth abnormalities
Mouth diseases
Mouth neoplasms
Movement disorders
Mowat-wilson syndrome
Moyamoya disease
Moyamoya disease with achalasia
Moyamoya disease with or without achalasia
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Mthfr deficiency
Mucinous adenocarcinoma
Mucinous carcinoma of breast
Muckle-wells syndrome
Mucocutaneous venous malformations
Mucoepidermoid carcinoma
Mucolipidosis
Mucopolysaccharidosis
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-plus syndrome
Mucosa-associated lymphoma
Mucosal melanoma
Mucous membrane pemphigoid
Muenke syndrome
Muir-torre syndrome
Mulibrey nanism
Mullerian aplasia and hyperandrogenism
Multicentric carpo tarsal osteolysis with or without nephropathy
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric osteolysis, nodulosis and arthropathy
Multicystic renal dysplasia
Multifocal breast carcinoma
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Multifocal pattern dystrophy simulating fundus flavimaculatus
Multiminicore disease
Multiminicore disease with hand involvement
Multiminicore myopathy
Multinodular goiter
Multiple acyl-coa dehydrogenase deficiency
Multiple benign circumferential skin creases on limbs
Multiple coagulation factor deficiency
Multiple congenital anomalies
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital exostosis
Multiple digital exostoses
Multiple endocrine neoplasia
Multiple endocrine neoplasia, with hirschsprung disease
Multiple endocrine neoplasia, without pheochromocytoma
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia with myopathy
Multiple exostoses
Multiple fibroadenomas of the breast
Multiple fibrofolliculomas
Multiple gastrointestinal atresias
Multiple hemangioblastomas
Multiple lentigines
Multiple lineage myelodysplasia
Multiple lipomata
Multiple meningioma
Multiple mitochondrial dna deletion syndrome
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome with hyperglycinemia
Multiple myeloma
Multiple nevi
Multiple osteochondromas
Multiple pancreatic beta-cell adenomas
Multiple paragangliomas associated with polycythemia
Multiple polyposis syndrome
Multiple pterygium syndrome
Multiple renal cysts
Multiple sclerosis
Multiple self-healing epithelioma
Multiple small medullary renal cysts
Multiple sulfatase deficiency
Multiple symmetric lipomatosis
Multiple synostoses syndrome
Multiple system atrophy
Multiple trichoepithelioma
Multisystem autoimmune disease
Multisystem autoimmune disease with facial dysmorphism
Multisystem neurologic, endocrine and pancreatic disease
Multisystemic smooth muscle dysfunction syndrome
Multisystemic syndrome
Mungan syndrome
Muscle amp deaminase deficiency
Muscle eye brain disease
Muscle filaminopathy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Muscular atrophy
Muscular dystrophy
Muscular dystrophy with cardiomyopathy and triangular tongue
Muscular dystrophy, congenital
Muscular dystrophy-dystroglycanopathy
Muscular ventricular septal defect
Musculocontractural ehlers-danlos syndrome
Musician`s dystonia
Mutilating keratoderma
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Myasthenia gravis
Myasthenic syndrome
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency
Mycotic aneurysm, intracranial
Myd88 deficiency
Myeloblastic leukemia
Myeloblastic leukemia with maturation
Myeloblastic leukemia without maturation
Myelocele
Myelocerebellar disorder
Myelodysplasia
Myelodysplastic syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myelodysplastic-myeloproliferative diseases
Myelofibrosis
Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement
Myeloid leukemia
Myeloid leukemia with 11q23 abnormalities
Myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Myeloid leukemia with cebpa somatic mutations
Myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Myeloid leukemia with multilineage dysplasia
Myeloid leukemia with npm1 somatic mutations
Myeloid leukemia with t(6;9)(p23;q34)
Myeloid leukemia with t(8;16)(p11;p13) translocation
Myeloid leukemia with t(8;21)(q22;q22) translocation
Myeloid leukemia with t(9;11)(p22;q23)
Myeloid leukemia, 11q23 abnormalities
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement
Myeloid/lymphoid neoplasm associated with fgfr1 rearrangement
Myeloid/lymphoid neoplasm associated with pdgfra rearrangement
Myeloid/lymphoid neoplasm associated with pdgfrb rearrangement
Myelokathexis
Myelomeningocele
Myelomonocytic leukemia
Myelopathic muscular atrophy
Myeloperoxidase deficiency
Myeloproliferative disorder
Myeloproliferative disorder with eosinophilia
Myeloproliferative neoplasm
Myh9-related disease
Myhre syndrome
Myocardial diseases
Myocardial infarction
Myocardial ischemia
Myocardial necrosis
Myocardial rupture
Myocardial stunning
Myocarditis
Myoclonic absences
Myoclonic astatic epilepsy
Myoclonic atonic seizures
Myoclonic dystonia
Myoclonic encephalopathy
Myoclonic epilepsy
Myoclonic seizures
Myoclonic-astatic epilepsy
Myoclonic-atonic epilepsy
Myoclonus
Myoclonus-dystonia syndrome
Myofibrillar myopathy
Myofibromatosis
Myogenic arthrogryposis multiplex congenita
Myoglobinuria
Myokymia
Myolipoma
Myopathic ehlers-danlos syndrome
Myopathic intestinal pseudoobstruction
Myopathic ophthalmopathy
Myopathy
Myopathy with abnormal lipid metabolism
Myopathy with excessive autophagy, x-linked
Myopathy with external ophthalmoplegia
Myopathy with extrapyramidal signs
Myopathy with fatal cardiomyopathy
Myopathy with postural muscle atrophy, x-linked
Myopathy, actin, congenital, with cores
Myopathy, actin, congenital, with excess of thin myofilaments
Myopathy, areflexia, respiratory distress, and dysphagia
Myopathy, congenital, with excess of muscle spindles
Myopathy, lactic acidosis, and sideroblastic anemia
Myopathy, mitochondrial with congenital cataract, hearing loss, and developmental delay
Myopathy, reducing body, x-linked
Myopathy, scapulohumeroperoneal
Myopathy, with rigid spine and distal joint contractures
Myopathy, x-linked, with postural muscle atrophy
Myopathy-areflexia-respiratory distress-dysphagia syndrome
Myopia
Myopia, high, with cataract and vitreoretinal degeneration
Myopia-joint laxity-short stature syndrome
Myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Myopic astigmatism
Myosclerosis
Myosin storage myopathy
Myositis
Myositis ossificans
Myostatin-related muscle hypertrophy
Myotonia congenita
Myotonia fluctuans
Myotonia levior
Myotonia permanens
Myotonic disorders
Myotonic dystrophy
Myotubular myopathy with abnormal genital development
Myxofibroma
Myxofibrosarcoma
Myxoid liposarcoma
Myxoid subcutaneous tumors
Myxoma
Myxoma of heart
Myxoma of the endocardium
Myxopapillary ependymoma
N-acetylaspartate deficiency
Nadh-cytochrome b5 reductase deficiency
Naegeli-franceschetti-jadassohn syndrome
Nager syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Nail diseases
Nail dysplasia
Nail dystrophy
Nail patella-like renal disease
Nail-patella syndrome
Najjar syndrome
Nakajo syndrome
Nakamura osame syndrome
Namaqualand hip dysplasia
Nance-horan syndrome
Nanophthalmos
Narcolepsy
Narcolepsy-cataplexy syndrome
Narcosis
Nasal polyposis
Nasodigitoacoustic syndrome
Nasopharyngeal cancer
Nasopharyngeal carcinoma
Nasopharyngeal neoplasms
Nasu-hakola disease
Native american myopathy
Natural killer cell and glucocorticoid deficiency with dna repair defect
Navajo familial neurogenic arthropathy
Navajo neurohepatopathy
Naxos disease
Neck cancer
Neck neoplasms
Neck webbing
Necrotizing encephalomyelopathy
Necrotizing encephalopathy
Necrotizing enterocolitis
Necrotizing myopathy
Necrotizing pancreatitis
Necrotizing pyelonephritis
Nemaline myopathy
Neoplasia of the pleura
Neoplasm
Neoplasm of ear
Neoplasm of gallbladder
Neoplasm of head
Neoplasm of male breast
Neoplasm of scrotum
Neoplasm of skeletal system
Neoplasms
Neoplasms of bone tissue
Neovascular inflammatory vitreoretinopathy
Nephritis
Nephroblastoma
Nephrocalcinosis
Nephrogenic diabetes insipidus
Nephrogenic fibrosing dermopathy
Nephrogenic syndrome of inappropriate antidiuresis
Nephrolithiasis
Nephrolithiasis with renal failure, x-linked
Nephrolithiasis-osteoporosis, hypophosphatemic
Nephronophthisis
Nephronophthisis-like nephropathy
Nephropathic cystinosis
Nephropathy with pretibial epidermolysis bullosa and deafness
Nephrosclerosis
Nephrosis
Nephrosis, congenital
Nephrotic syndrome
Nephrotic syndrome with or without ocular abnormalities
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Nerve sheath tumors
Nervous system acquired metabolic diseases
Nervous system diseases
Nervous system disorder
Nervous system neoplasms
Nestor guillermo progeria syndrome
Netherton syndrome
Neu-laxova syndrome
Neural crest tumor
Neural tube defect
Neuralgic amyotrophy
Neuraminidase 1 deficiency
Neurenteric cyst
Neurilemmoma
Neuroaxonal dystrophy
Neuroblastoma
Neurocirculatory asthenia
Neurocognitive disorders
Neurocutaneous syndromes
Neurodegeneration
Neurodegeneration with ataxia, dystonia, and gaze palsy
Neurodegeneration with brain iron accumulation
Neurodegeneration-blindness-ataxia-spasticity syndrome
Neurodegenerative dementia with intermediate filaments
Neurodegenerative disorders
Neurodegenerative disorders with brain atrophy
Neurodegenerative disorders with cerebellar atrophy
Neurodegenerative disorders with variable ataxia and seizures
Neurodegenerative photosensitivity syndrome
Neurodegenerative syndrome with lipodystrophy
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
Neurodevelopmental disorder with hyperkinetic movements without seizures
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
Neurodevelopmental disorder with involuntary movements
Neurodevelopmental disorder with microcephaly, ataxia, and seizures
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Neurodevelopmental disorder with microcephaly, spasticity, and brain anomalies
Neurodevelopmental disorder with midbrain and hindbrain malformations
Neurodevelopmental disorder with motor impairment and absent language
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Neurodevelopmental disorder with or without seizures and gait abnormalities
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Neurodevelopmental disorder with spasticity and poor growth
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorders
Neuroectodermal melanolysosomal disease
Neuroectodermal tumors
Neuroendocrine cell hyperplasia
Neuroendocrine tumor of pancreas
Neuroendocrine tumor of stomach
Neuroendocrine tumors
Neuroferritinopathy
Neurofibroma
Neurofibroma of subcutaneous tissue
Neurofibromatosis
Neurofibromatosis-noonan syndrome
Neurofibrosarcoma
Neurogenic arthrogryposis multiplex congenita
Neurogenic arthropathy
Neurogenic scapuloperoneal syndrome
Neurogenic urinary bladder
Neurological conditions associated with aminoacylase 1 deficiency
Neurological disorder with cataract and cardiac involvement
Neurological syndrome
Neurological, cutaneous and articular syndrome
Neuroma
Neuromuscular diseases
Neuromuscular dysphagia
Neuromyelitis optica
Neuronal ceroid lipofuscinosis
Neuronal heterotopia
Neuronal intestinal pseudoobstruction
Neuronal intranuclear inclusion disease
Neuronopathy
Neuropapillitis
Neuropathy
Neuropathy ataxia and retinis pigmentosa
Neuropathy with hearing impairment
Neuropathy, hereditary, with or without macular degeneration
Neuropsychiatric systemic lupus erythematosus
Neuroretinitis
Neurosensory hearing impairment
Neurotic disorders
Neuroticism
Neutral lipid storage disease with ichthyosis
Neutral lipid storage myopathy
Neutropenia
Neutropenic colitis
Neutrophil immunodeficiency syndrome
Neutrophilia
Neutrophilic leukemia
Nevi flammei
Nevo syndrome
Nevus
Nevus comedonicus
Nevus of ota
Nevus spilus
Newfoundland rod-cone dystrophy
Nf1 microdeletion syndrome
Ngly1 deficiency
Nicolaides baraitser syndrome
Niemann-pick disease
Niemann-pick disease, protracted neurovisceral
Night blindness
Night blindness, congenital stationary
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Nik deficiency
Nocturia
Nocturnal eating-drinking syndrome
Nocturnal enuresis
Nocturnal epilepsy
Nodular elastosis with cysts and comedones
Nodular fasciitis
Nodular goiter
Nodular non-suppurative panniculitis
Nodular urticaria pigmentosa
Non rare obesity
Non rare thrombophilia
Non-24 hour sleep-wake disorder
Non-acidotic proximal tubulopathy
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired panhypopituitarism
Non-alcoholic fatty liver disease
Non-classic congenital adrenal hyperplasia
Non-hereditary retinoblastoma
Non-hodgkin lymphoma
Non-hodgkin`s lymphoma of central nervous system
Non-lethal arthrogryposis multiplex congenita syndrome
Non-obstructive azoospermia
Non-seminomatous tumor of testis
Non-specifi epileptic encephalopathy
Non-spherocytic hemolytic anemia
Non-syndromic intellectual disability
Non-syndromic intellectual disability, x-linked
Non-syndromic male infertility due to sperm motility disorder
Non-syndromic sensorineural deafness
Nonarteritic anterior ischemic optic neuropathy
Nonbacterial verrucal endocardiosis
Noncompaction cardiomyopathy
Nonconvulsive seizure disorder
Nonconvulsive status epilepticus
Nondeletional hemoglobin h disease
Nonepidermolytic keratinocytic nevus
Nonepidermolytic palmoplantar keratoderma
Nonfluent aphasia
Nongerminomatous tumor
Nongranulomatous uveitis
Nonimmune hydrops fetalis
Nonketotic hyperglycinemia
Nonmedullary thyroid carcinoma
Nonobstructive spermatogenic failure, y-linked
Nonocclusive mesenteric ischemia
Nonorganic insomnia
Nonorganic psychosis
Nonorganic sleep wake cycle disorders
Nonpolyposis colorectal cancer
Nonprogressive cardiac conduction defect
Nonprogressive heart block
Nonpsychotic organic brain syndrome
Nonsyndromic congenital nail disorder
Nonsyndromic deafness
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with myelomonocytic leukemia
Noonan syndrome-like disorder with or without myelomonocytic leukemia
Noonan-like syndrome with loose anagen hair
Nor polyagglutination syndrome
Norman-roberts syndrome
Normokalemic periodic paralysis
Normophosphatemic tumoral calcinosis
Normosmic congenital hypogonadotropic hypogonadism
Norrie disease
North carolina macular dystrophy
Northern epilepsy syndrome
Nose cancer
Nuchal bleb
Nuclear diffuse nonprogressive cataract
Nuclearly-encoded mitochondrial complex v (atp synthase) deficiency
Nudt15 deficiency
Null syndrome
Nyctalopia
Nystagmus
Nystagmus associated with disorder of the vestibular system
Nystagmus, congenital, x-linked
Nystagmus-induced head nodding
Obesity
Obesity, hyperphagia, and developmental delay
Obsessive-compulsive disorder
Obsolete peripheral retinopathy
Obsolete prominent epicanthal folds
Obstructive asymmetric septal hypertrophy
Obstructive azoospermia
Obstructive hydrocephalus
Obstructive sleep apnea syndrome
Obtundation status
Occipital encephalocele
Occipital horn syndrome
Occipital pachygyria and polymicrogyria
Occlusive mesenteric arterial ischemia
Occult macular dystrophy
Ochoa syndrome
Ocular albinism
Ocular albinism with congenital sensorineural deafness
Ocular albinism with sensorineural deafness
Ocular albinism, x-linked
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Ocular cicatricial pemphigoid
Ocular coloboma, with or without hearing impairment, cleft lip/palate, and/or mental retardation
Ocular cystinosis
Ocular hypertension
Ocular melanosis
Oculoauricular syndrome
Oculocerebrodental syndrome
Oculocerebrorenal syndrome
Oculocutaneous albinism
Oculodentodigital dysplasia
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Oculomelic amyoplasia
Oculomotor apraxia
Oculomotor nerve palsy
Oculootodental syndrome
Oculootoradial syndrome
Oculopharyngeal muscular dystrophy
Oculopharyngeal spinal muscular atrophy
Oculotrichoanal syndrome
Oculovestibuloauditory syndrome
Odontochondrodysplasia
Odontogenic tumor
Odontohypophosphatasia
Odontoleukodystrophy
Odontoma
Odontome
Odontoonychodermal dysplasia
Oestrogen receptor positive breast cancer
Ogden syndrome
Oguchi disease
Ohdo syndrome, x-linked
Olfaction disorders
Olfactory groove meningioma
Oligoarticular arthritis
Oligoastrocytoma
Oligodactyly
Oligodendroblastoma
Oligodendroglioma
Oligodontia
Oligodontia-cancer predisposition syndrome
Oligodontia-colorectal cancer syndrome
Oligospermia
Oligosynaptic infertility
Oliver-mcfarlane syndrome
Olivopontocerebellar atrophies
Olivopontocerebellar hypoplasia, fetal-onset
Ollier disease
Olmsted syndrome
Omenn syndrome
Omodysplasia
Oncocytoma of kidney
Ondine syndrome
Onychogryposis
Onycholysis
Onychotillomania
Oocyte maturation defect
Opalescent dentin
Open angle glaucoma
Ophthalmoplegia
Ophthalmoplegia, with rib and vertebral anomalies
Opitz gbbb syndrome
Opitz gbbb syndrome, x-linked
Oppenheim`s disease
Oppositional defiant disorder
Opsismodysplasia
Opsoclonus
Opsoclonus-myoclonus syndrome
Optic atrophy
Optic atrophy and cataract
Optic atrophy plus syndrome
Optic atrophy with or without ataxia, mental retardation, and seizures
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Optic atrophy, intellectual disability syndrome
Optic atrophy, x-linked
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Optic disc anomalies with retinal and/or macular dystrophy
Optic disc disorder
Optic disk drusen
Optic nerve aplasia
Optic nerve glioma
Optic nerve hypoplasia
Optic nerve hypoplasia and abnormalities of the central nervous system
Optic nerve oedema
Optic neuritis
Optic neuropathy
Oral aversion
Oral cavity carcinoma
Oral cleft
Oral dyskinesia
Oral mucositis
Oral submucous fibrosis
Oral ulcer
Oral-facial-digital syndrome with short stature and brachymesophalangy
Orbital craniosynostosis
Orbital cyst
Orgasmic disorder
Ornithine carbamoyltransferase deficiency
Ornithine transcarbamylase deficiency
Orofacial cleft
Orofacial dyskinesia
Orofaciodigital syndrome
Oromotor apraxia
Oropharyngeal carcinoma
Oropharyngeal dysphagia
Oropharyngeal neoplasm
Orstavik lindemann solberg syndrome
Orthokeratotic hyperkeratosis
Orthostatic hypotension
Orthostatic syncope
Osseous ankylosis
Osseous heteroplasia
Ossification of the posterior longitudinal ligament of spine
Ossifying fibroma of the jaw
Osteoarthritis of distal interphalangeal joint
Osteoarthritis of hip
Osteoarthritis of the hand
Osteoarthrosis deformans
Osteoarthrosis of joints of thumb
Osteochondritis dissecans
Osteochondrodysplasia
Osteochondroma
Osteochondrosis
Osteocraniostenosis
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenesis imperfecta-ehlers-danlos combined syndrome
Osteoglosphonic dysplasia
Osteolysis involving bones of the feet
Osteoma
Osteomalacia
Osteomyelitis
Osteopathia striata
Osteopathia striata cranial sclerosis
Osteopenia
Osteopetrosis
Osteopetrosis with neuroaxonal dysplasia
Osteopetrosis with renal tubular acidosis
Osteopetrosis-hypogammaglobulinemia syndrome
Osteopoikilosis
Osteoporosis
Osteoporosis of vertebrae
Osteoporosis with fractures, x-linked
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Osteosclerosis
Osteosclerosis-developmental delay-craniosynostosis syndrome
Osteosclerotic bone dysplasia
Osteosclerotic metaphyseal dysplasia
Otitis externa
Otitis media
Oto-palato-digital syndrome
Otocephaly
Otodental syndrome
Otofaciocervical syndrome
Otosclerosis
Otospondylomegaepiphyseal dysplasia
Ovalocytosis
Ovarian adenocarcinoma
Ovarian cancer
Ovarian carcinoma
Ovarian cysts
Ovarian diseases
Ovarian dysgenesis
Ovarian endometrioid carcinoma
Ovarian epithelial carcinoma
Ovarian failure
Ovarian fibromata
Ovarian gonadoblastoma
Ovarian hyperstimulation syndrome
Ovarian mucinous tumor
Ovarian neoplasm
Ovarian papillary adenocarcinoma
Ovarian serous adenocarcinoma
Ovarian serous cystadenocarcinoma
Ovarian thecoma
Ovarian tumor
Ovarioleukodystrophy
Overgrowth spectrum
Overgrowth syndrome with fibroadipose hyperplasia
Overgrowth-macrocephaly-facial dysmorphism syndrome
Overhydrated hereditary stomatocytosis
Overriding aorta
Ovotestis
Oxidative phosphorylation deficiency
Oxoglutaricaciduria
Oxyphilic adenoma
O`donnell pappas syndrome
Pachydermoperiostosis syndrome
Pachygyria
Pachyonychia congenita
Paget disease
Pallidal degeneration
Pallister-hall syndrome
Palmar hyperkeratosis
Palmoplantar carcinoma
Palmoplantar hyperkeratosis and true hermaphroditism
Palmoplantar hyperkeratosis with carcinoma of skin and sex reversal
Palmoplantar keratoderma
Palmoplantar keratoderma and congenital alopecia
Palmoplantar keratoderma and woolly hair
Palmoplantar keratoderma with deafness
Palmoplantar keratoderma, with periorificial keratotic plaques, x-linked
Palmoplantar keratoderma-esophageal carcinoma syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Palmoplantar keratoderma-xx sex reversal-predisposition to carcinoma syndrome
Palmoplantar keratosis
Palmoplantar pustules
Palmoplantar pustulosis
Panacinar emphysema
Panayiotopoulos syndrome
Pancreas divisum
Pancreatic adenocarcinoma
Pancreatic adenoma
Pancreatic agenesis and congenital heart defects
Pancreatic agenesis-holoprosencephaly syndrome
Pancreatic and cerebellar agenesis
Pancreatic cancer
Pancreatic carcinoma
Pancreatic cyst
Pancreatic diseases
Pancreatic ductal carcinoma
Pancreatic endocrine carcinoma
Pancreatic hypoplasia
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic insufficiency-anemia-hyperostosis syndrome
Pancreatic lipase deficiency
Pancreatic neoplasm
Pancreatic pseudocyst
Pancreatic trypsinogen deficiency
Pancreatitis
Pancreatoblastoma
Pancytopenia
Pancytopenia-developmental delay syndrome
Panhypopituitarism
Panhypopituitarism, x-linked
Panic disorder
Panniculitis
Pantothenate kinase-associated neurodegeneration
Papillary adenoma
Papillary craniopharyngioma
Papillary cystadenoma of the epididymis
Papillary ependymoma
Papillary meningioma
Papillary renal carcinoma
Papillary syringocystadenoma
Papillary thyroid carcinoma
Papilledema
Papilloma
Papilloma of choroid plexus
Papillomatosis
Papillon-lefevre disease
Paradoxical myotonia
Paraganglioma
Paraganglioma and gastric stromal sarcoma
Paraganglioma of head and neck
Paragangliomas with sensorineural hearing loss
Parakeratosis
Parakeratosis variegata
Paralytic ileus
Paramyotonia congenita
Paramyotonia congenita of von eulenburg
Paramyotonia congenita without cold paralysis
Paramyotonia congenita/myotonia congenita
Paraneoplastic syndromes
Paranoia
Paranoid delusion
Paranoid schizophrenia
Paraplegia
Paraproteinemia
Parapsoriasis
Parapsoriasis en plaques
Parasagittal meningioma
Parasomnia
Parastremmatic dwarfism
Parathyroid adenoma
Parathyroid agenesis
Parathyroid carcinoma
Parathyroid gland adenocarcinoma
Parathyroid hyperplasia
Parathyroid hypoplasia
Parathyroid neoplasms
Paratuberculosis
Paravenous chorioretinal atrophy
Parietal foramina
Parietal foramina with clavicular hypoplasia
Parietal foramina with cleidocranial dysplasia
Paris-trousseau thrombocytopenia
Parkes weber syndrome
Parkinson disease
Parkinsonian disease
Parkinsonian-pyramidal syndrome
Parkinsonism-dystonia
Parkinsonism-spasticity syndrome, x-linked
Paronychia inflammation
Parotitis
Paroxysmal ataxia
Paroxysmal atrial fibrillation
Paroxysmal cold hemoglobinuria
Paroxysmal drowsiness
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Paroxysmal extreme pain disorder
Paroxysmal hemoglobinuria
Paroxysmal hypertension
Paroxysmal kinesigenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nonkinesigenic dyskinesia
Paroxysmal supraventricular tachycardia
Paroxysmal ventricular fibrillation
Paroxysmal ventricular tachycardia
Partial absence of cerebellar vermis
Partial agenesis of corpus callosum
Partial androgen insensitivity syndrome
Partial atrioventricular canal defect
Partial chromosome y deletion
Partial color blindness
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Partial defect of atrioventricular canal
Partial hydatidiform mole
Partial lipodystrophy
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Partial occipital seizures
Partial or complete agenesis of corpus callosum
Partial paralysis vocal cords
Partington syndrome
Patchy hypo- and hyperpigmentation
Patchy palmoplantar keratoderma
Patent ductus arteriosus
Patent foramen ovale
Paternal uniparental disomy of chromosome 14
Paternal uniparental disomy of chromosome 6
Patterned dystrophy of retinal pigment epithelium
Pauciarticular chronic arthritis
Pearson`s marrow-pancreas syndrome
Pectoralis amyotrophy
Peeling skin syndrome
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Peg-shaped teeth
Peho syndrome
Peho-like syndrome
Pelger-huet anomaly
Peliosis hepatis
Pelizaeus-merzbacher disease
Pelvic bone exostoses
Pelvic girdle amyotrophy
Pelvic girdle muscle atrophy
Pelvic kidney
Pelvic organ prolapse
Pelviscapular dysplasia
Pemphigus
Pemphigus foliaceus
Pemphigus vulgaris
Pena shokeir syndrome
Pendred syndrome
Pendular nystagmus
Penetrating foot ulcers
Penile cancer
Penile diseases
Penile hypospadias
Penile neoplasms
Penis agenesis
Pentalogy of cantrell
Pentosuria
Penttinen-aula syndrome
Peptic esophagitis
Peptic ulcer
Perforation of colon
Perianal abscess
Periapical periodontitis
Periarticular calcification
Periauricular skin pits
Pericardial constriction with growth failure
Pericardial effusion
Pericarditis
Pericementitis
Perifollicular hyperkeratosis
Perifolliculitis
Perineurioma
Periocular capillary hemangioma
Periodic hyperlysinemia
Periodic hypokalemic paresis
Periodic paralysis
Periodic paralysis with distal motor neuropathy
Periodic paralysis with transient compartment-like syndrome
Periodic syndrome
Periodontal diseases
Periodontal ehlers-danlos syndrome
Periodontitis
Periodontosis
Perioral eczema
Periostitis
Periostosis
Peripapillary chorioretinal atrophy
Peripheral arterial stenosis
Peripheral axonal atrophy
Peripheral axonal neuropathy
Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease
Peripheral demyelination
Peripheral dysostosis
Peripheral nerve sheath neoplasm
Peripheral neuropathy
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Peripheral neuropathy, with or without impaired intellectual development
Peripheral primitive neuroectodermal tumor
Peripheral pulmonary artery stenosis
Peripheral retinal atrophy
Peripheral retinal neovascularization
Peripheral schwannoma
Perisylvian polymicrogyria
Perisylvian syndrome
Peritoneal carcinoma
Peritoneal carcinomatosis
Peritoneal fibrosis
Peritoneal mesothelioma
Peritoneal neoplasms
Peritonitis
Periungual fibroma
Perivascular epithelioid neoplasms
Periventricular gray matter heterotopia
Periventricular heterotopia
Periventricular heterotopia, x-linked
Periventricular leukomalacia
Periventricular nodular heterotopia
Perlman syndrome
Perniola krajewska carnevale syndrome
Peroneal muscle atrophy
Peroxisomal acyl-coa oxidase deficiency
Peroxisomal dysfunction
Peroxisomal fatty acyl-coa reductase 1 disorder
Perrault syndrome
Perry syndrome
Persian gulf syndrome
Persistent cloaca
Persistent fetal circulation
Persistent fetal vasculature
Persistent hyperplastic primary vitreous
Persistent left superior vena cava
Persistent mullerian duct syndrome
Persistent ostium primum
Persistent polyclonal b-cell lymphocytosis
Persistent pupillary membranes
Persistent truncus arteriosus
Persistent umbilical sinus
Personality disorders
Petechiae
Peters plus syndrome
Petit mal status
Petrous sinus thrombophlebitis
Petrous sinus thrombosis
Pettigrew syndrome
Petty laxova wiedemann syndrome
Peutz-jeghers syndrome
Peyronie disease
Pfaundler-hurler syndrome
Pfeiffer syndrome
Pfeiffer type acrocephalosyndactyly
Phace association
Phacodonesis
Phakomatosis cesioflammea
Phakomatosis cesiomarmorata
Phakomatosis pigmentokeratotica
Phakomatosis pigmentovascularis
Phalangoepiphyseal dysplasia
Pharyngeal neoplasms
Pharyngitis
Phenylketonuria
Pheochromocytoma
Phlebitis and thrombophlebitis
Phobic anxiety disorder
Phocomelia
Phocomelia of upper limb
Phosphate diabetes
Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
Phosphoenolpyruvate carboxykinase deficiency
Phosphoglycerate dehydrogenase deficiency
Phosphoglycerate kinase 1 deficiency
Phosphohydroxylysinuria
Phospholipid-associated cholelithiasis
Phosphoribosylpyrophosphate synthetase superactivity
Phosphoserine aminotransferase deficiency
Photomyoclonic seizures
Photosensitive tonic-clonic seizures
Phrynoderma
Phthisis bulbi
Phyllodes tumor
Physiologic amenorrhea
Pica
Piebaldism
Pierpont syndrome
Pierre-robin syndrome
Pierson syndrome
Pigmentary disorder, reticulate, with systemic manifestations
Pigmentary pallidal degeneration
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Pigmentation disorders
Pigmented dermatofibrosarcoma protuberans
Pigmented nodular adrenocortical disease
Pigmented paravenous chorioretinal atrophy
Pilarowski-bjornsson syndrome
Pili torti-deafness syndrome
Pilomatrixoma
Pilomyxoid astrocytoma
Pineal gland neoplasm
Pineoblastoma
Pitt-hopkins syndrome
Pitt-hopkins-like syndrome
Pitt-rogers-danks syndrome
Pituitary adenoma
Pituitary apoplexy
Pituitary carcinoma
Pituitary dependent hypercortisolism
Pituitary diseases
Pituitary dwarfism
Pituitary gigantism
Pituitary hormone deficiency
Pituitary neoplasms
Pituitary stalk interruption syndrome
Pituitary tumor, growth hormone-secreting, somatic
Placental steroid sulfatase deficiency
Plagiocephaly
Plantar fasciitis
Plaque-form urticaria pigmentosa
Plasminogen activator inhibitor-1 deficiency
Plasminogen deficiency
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
Platelet alpha-granule deficiency
Platelet disorder with associated myeloid malignancy
Platelet glycoprotein iv deficiency
Platelet storage pool deficiency
Platelet-activating factor acetylhydrolase deficiency
Platelet-type bleeding disorder
Platybasia
Platyspondylic dysplasia
Pleoconial myopathy
Pleomorphic adenoma of salivary gland
Pleomorphic xanthoastrocytoma
Pleural diseases
Pleural effusion
Pleural neoplasms
Pleuritis
Pleuropericarditis
Pleuropulmonary blastoma
Pleuropulmonary blastoma tumor susceptibility syndrome
Plexiform leiomyoma
Plexiform neurofibroma
Pneumothorax
Podagra
Poikiloderma
Poikiloderma of kindler
Poikiloderma with neutropenia
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Poliosis
Polyagglutinable erythrocyte syndrome
Polyarteritis nodosa
Polyarthralgia
Polyarthritis
Polyarthritis, rheumatoid factor positive
Polyarticular chondrocalcinosis
Polycoria
Polycystic kidney disease
Polycystic kidney disease with microbrachycephaly, hypertelorism, and brachymelia
Polycystic kidney disease with or without polycystic liver disease
Polycystic kidney disease with polycystic liver disease
Polycystic kidney disease with tuberous sclerosis
Polycystic kidney disease without polycystic liver disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polycystic liver disease with kidney cysts
Polycystic ovary syndrome
Polycythemia
Polycythemia vera
Polydactyly
Polydactyly of fingers
Polydactyly of toes
Polyendocrine-polyneuropathy syndrome
Polyglandular autoimmune syndrome
Polyglandular deficiency syndrome
Polyglucosan body disease
Polyglucosan body myopathy
Polyglucosan body myopathy with or without immunodeficiency
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Polymicrogyria
Polymicrogyria with optic nerve hypoplasia
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Polymorphous corneal dystrophy
Polymyositis
Polymyositis ossificans
Polyneuropathy
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Polyostotic fibrous dysplasia
Polyp
Polyp of large intestine
Polyposis
Polyposis coli
Polyposis syndrome
Polysplenia
Polysyndactyly
Polyvalvular heart disease syndrome
Pompe`s disease
Pontine microangiopathy with leukoencephalopathy
Pontine tumors
Pontocerebellar hypoplasia
Pontoneocerebellar hypoplasia
Poor fetal nutrition
Popliteal pterygium syndrome
Porencephalic cyst
Porencephaly
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Poretti-boltshauser syndrome
Porokeratosis
Porokeratotic eccrine ostial and dermal duct nevus
Poroma
Porphobilinogen synthase deficiency
Porphyria
Porphyria cutanea tarda
Porphyruria
Portal hypertension
Portal vein thrombosis
Postauricular fistula
Postaxial hand polydactyly
Postaxial polydactyly
Postaxial polydactyly of hands
Posterior column ataxia-retinitis pigmentosa syndrome
Posterior communicating artery aneurysm
Posterior cortical atrophy
Posterior embryotoxon
Posterior lenticonus
Posteriorly rotated ear
Posterolateral diaphragmatic hernia
Postnatal asphyxia
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Postoperative cataract syndrome
Postural orthostatic tachycardia syndrome
Potocki-lupski syndrome
Potocki-shaffer syndrome
Prader-willi syndrome
Prader-willi-like syndrome
Preaxial polydactyly-upperback hypertrichosis syndrome
Precocious pubarche
Precocious puberty
Preeclampsia
Preeclampsia/eclampsia
Preimplantation embryonic lethality
Prekallikrein deficiency
Premature adrenarche
Premature aging
Premature menopause
Premature occlusive vascular stenosis
Premature osteoarthritis
Premature ovarian failure
Presenile cataract
Priapism
Primary tethered cord syndrome
Primitive neuroectodermal tumor
Primrose syndrome
Progeria
Progeroid and marfanoid aspect-lipodystrophy syndrome
Progeroid features hepatocellular carcinoma predisposition syndrome
Progeroid syndrome
Progesterone resistance
Progressive bulbar palsy
Progressive cardiac conduction defect
Progressive cerebello-cerebral atrophy
Progressive cone dystrophy
Progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with leukodystrophy
Progressive epilepsy-intellectual disability syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Progressive external ophthalmoplegia
Progressive external ophthalmoplegia with mitochondrial dna deletions
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Progressive hyper and hypopigmentation
Progressive hyperpigmentation
Progressive leukodystrophy
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive muscular atrophy
Progressive myoclonic epilepsy
Progressive myoclonic epilepsy with dystonia
Progressive non-fluent aphasia
Progressive polyneuropathy with bilateral striatal necrosis
Progressive proximal myelopathic muscular atrophy
Progressive pseudorheumatoid dysplasia
Progressive retinal dystrophy
Progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Progressive scapulohumeroperoneal distal myopathy
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Progressive spinal muscular atrophy
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Progressive supranuclear ophthalmoplegia
Progressive supranuclear palsy
Progressive symmetric erythrokeratodermia
Prolactinoma
Prolidase deficiency
Proliferative diabetic retinopathy
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
Proliferative vitreoretinopathy
Proline dehydrogenase deficiency
Prolinuria
Promyelocytic leukemia
Proopiomelanocortin deficiency
Properdin deficiency
Properdin deficiency, x-linked
Propionic acidemia
Proprotein convertase 1/3 deficiency
Proptosis
Prostate adenocarcinoma
Prostate cancer
Prostate cancer, hereditary
Prostatic adenoma
Prostatic cancer, castration-resistant
Prostatic diseases
Prostatic hyperplasia
Prostatic hypertrophy
Prostatic neoplasms
Prostatic neoplasms, castration-resistant
Prostatitis
Prostatitis with chronic pelvic pain syndrome
Protanomaly
Proteasome-associated autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome, digenic
Protein c deficiency
Protein s deficiency
Protein z deficiency
Protein-losing enteropathy
Proteinuria
Proteus syndrome
Proteus-like syndrome
Protoplasmic astrocytoma
Protoporphyria, erythropoietic
Proximal 16p11.2 microdeletion syndrome
Proximal myopathy with extrapyramidal signs
Proximal myopathy with focal depletion of mitochondria
Proximal myotonic myopathy
Proximal renal tubular acidosis
Proximal spinal muscular atrophy
Proximal symphalangism
Prp systemic amyloidosis
Prune belly syndrome
Psammomatous meningioma
Pseudo-hurler polydystrophy
Pseudo-torch syndrome
Pseudo-von willebrand disease
Pseudoachondroplasia
Pseudoarylsulfatase a deficiency
Pseudobulbar palsy
Pseudocholinesterase deficiency
Pseudodeficiency of beta-hexosaminidase a
Pseudohermaphroditism
Pseudohermaphroditism, female, with hypokalemia
Pseudohyperkalemia cardiff
Pseudohypoaldosteronism
Pseudohypoparathyroidism
Pseudopapilledema
Pseudopelade
Pseudopseudohypoparathyroidism
Pseudorheumatoid arthropath
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Psoriasiform eczema
Psoriasis
Psoriasis vulgaris
Psoriatic arthritis
Psychomotor disorders
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Psychophysiological insomnia
Psychosexual disorders
Psychosexual dysfunction
Psychosis
Pten hamartoma tumor syndrome
Pten hamartoma tumor syndrome with granular cell tumor
Pterygium
Ptosis
Ptosis, hereditary congenital
Pubertal gynecomastia
Puerperal disorders
Pulmonary alveolar microlithiasis
Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis-hypogammaglobulinemia
Pulmonary arterial hypertension
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Pulmonary arterial medial hypertrophy
Pulmonary arteriovenous fistulas
Pulmonary artery dilatation
Pulmonary aterial intimal fibrosis
Pulmonary atresia with intact ventricular septum
Pulmonary capillary hemangiomatosis
Pulmonary carcinoid tumor
Pulmonary chondroma
Pulmonary cystic fibrosis
Pulmonary dysgenesis
Pulmonary emphysema
Pulmonary eosinophilia
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure
Pulmonary hypertension
Pulmonary hypertension with hereditary hemorrhagic telangiectasia
Pulmonary hypoplasia
Pulmonary lymphangiomyomatosis
Pulmonary stenosis
Pulmonary surfactant metabolism dysfunction
Pulmonary thromboembolism
Pulmonary venoocclusive disease
Pulmonary venous return anomaly
Pulmonic valve myxoma
Pulsatile tinnitus
Pulverulent cataract
Punctate cataract
Punctate keratitis
Punctate keratosis
Punctate palmoplantar hyperkeratosis
Punctate palmoplantar keratoderma
Punding
Purine-nucleoside phosphorylase deficiency
Purpura fulminans
Pustular psoriasis
Pycnodysostosis
Pyelonephritis
Pyle disease
Pyle metaphyseal dysplasia
Pyloric atresia
Pyoderma
Pyoderma gangrenosum
Pyogenic arthritis, pyoderma gangrenosum and acne
Pyogenic granuloma
Pyogenic sacroiliitis
Pyridoxal phosphate-responsive seizures
Pyridoxamine 5-prime-phosphate oxidase deficiency
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency disease
Pyruvate dehydrogenase complex deficiency disease
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate metabolism, inborn errors
Q fever
Quadricuspid aortic valve
Quadriplegia
Quebec platelet disorder
Rabson-mendenhall syndrome
Rachischisis
Rachitic rosary
Radial aplasia
Radial polydactyly
Radiation syndrome
Radiation-induced cancer
Radiohumeral fusions with other skeletal and craniofacial anomalies
Radioulnar synostosis
Radioulnar synostosis with amegakaryocytic thrombocytopenia
Rahman syndrome
Raine syndrome
Rajab interstitial lung disease with brain calcifications
Ramer ladda syndrome
Ramon syndrome
Ramsay hunt paralysis syndrome
Rapadilino syndrome
Rapp-hodgkin syndrome
Rare isolated myopia
Rasmussen`s syndrome
Raynaud disease
Raynaud phenomenon
Reactive depression
Reactive hemophagocytic syndrome
Reactive hypoglycemia
Reactive psychosis
Reactive systemic amyloidosis
Receptive language delay
Rectal carcinoma
Rectal neoplasms
Rectal polyp
Rectal prolapse
Rectal stenosis
Rectus femoris muscle atrophy
Reducing body myopathy
Reduction of thyroxine-binding globulin x-linked
Refsum disease
Regressive spondylometaphyseal dysplasia
Reifenstein syndrome
Reis-bucklers corneal dystrophy
Rela fusion-positive ependymoma
Renal agenesis
Renal aplasia
Renal artery stenosis
Renal carcinoma
Renal carnitine transport defect
Renal coloboma syndrome
Renal cortical atrophy
Renal corticomedullary cysts
Renal cyst
Renal cysts and diabetes syndrome
Renal dysplasia
Renal dysplasia and retinal aplasia
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal fibrosis
Renal glomerular disease
Renal glucosuria
Renal hypertension
Renal hypodysplasia, nonsyndromic
Renal hypodysplasia/aplasia
Renal hypomagnesemia
Renal hypophosphatemia
Renal hypoplasia
Renal hypouricemia
Renal insufficiency
Renal pseudohypoaldosteronism
Renal steatosis
Renal tubular acidosis
Renal tubular acidosis with sensorineural hearing loss
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, distal, with progressive nerve deafness
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Renal tubular acidosis, with normal red cell morphology
Renal tubular disorder
Renal tubular dysgenesis of genetic origin
Renal tubular dysgenesis with choanal atresia and athelia
Renal tubular necrosis
Renal tubulopathy-encephalopathy-liver failure syndrome
Renal-hepatic-pancreatic dysplasia
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Renpenning syndrome
Repetitive compulsive behavior
Residual tumor
Resistance to thyroid hormone
Resistance to thyrotropin-releasing hormone syndrome
Respiration disorders
Respiratory distress syndrome
Respiratory distress with surfactant metabolism deficiency
Respiratory failure
Respiratory tract diseases
Restless legs syndrome
Restrictive cardiomyopathy
Restrictive dermopathy
Restrictive external opthalmoplegia
Reticular dysgenesis
Reticular dystrophy of retinal pigment epithelium
Reticular pigmentary degeneration
Reticular retinal dystrophy
Reticulate acropigmentation of kitamura
Reticulate hyperpigmentation
Reticulate pigmentary disorder, x-linked
Reticuloendotheliosis with eosinophilia
Reticulosarcoma
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal arterial macroaneurysms
Retinal arterial tortuosity
Retinal artery occlusion
Retinal coloboma
Retinal cone dystrophy
Retinal degeneration
Retinal detachment
Retinal diseases
Retinal dysplasia
Retinal dystrophy
Retinal dystrophy and iris coloboma with or without congenital cataract
Retinal dystrophy and obesity
Retinal dystrophy with early macular involvement
Retinal dystrophy with extraocular anomalies
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Retinal dystrophy with or without extraocular anomalies
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy, cataracts, and short stature syndrome
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Retinal hamartoma
Retinal infarction
Retinal lattice degeneration
Retinal macular dystrophy
Retinal nonattachment
Retinal perforations
Retinal pigment epithelial detachment
Retinal telangiectasia
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vein occlusion
Retinitis
Retinitis pigmentosa
Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa inversa
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa, digenic
Retinitis pigmentosa, x-linked
Retinitis pigmentosa-cataract-short stature-intellectual disability syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome(shrf)
Retinitis punctata albescens
Retinoblastoma
Retinol deficiency
Retinopathy
Retinoschisis
Retinoschisis, x-linked
Retrobulbar neuritis
Retrocollis
Retrograde amnesia
Rett syndrome
Rett syndrome, zappella variant
Revesz syndrome
Reynolds syndrome
Rh deficiency syndrome
Rhabdoid tumor
Rhabdoid tumor predisposition syndrome
Rhabdomyoma
Rhabdomyosarcoma
Rhegmatogenous retinal detachment
Rheumatic aortic stenosis
Rheumatic chorea
Rheumatic heart disease
Rheumatoid arthritis
Rheumatoid factor-negative polyarticular arthritis
Rhinencephalic epilepsy
Rhinitis
Rhinosinusitis with nasal polyps
Rhizomelia
Rhizomelic chondrodysplasia punctata
Rhyns syndrome
Rib fusion
Riboflavin deficiency
Riboflavin transporter deficiency
Ribose 5-phosphate isomerase deficiency
Richieri costa pereira syndrome
Rickets
Riddle syndrome
Rieger syndrome
Right aortic arch
Right sided atrial isomerism
Right ventricular dilatation
Rigid spine syndrome
Rigidity and multifocal seizure syndrome
Rin2 syndrome
Ring dermoid of cornea
Rippling muscle disease
Ritscher-schinzel syndrome
Roberts syndrome
Roberts-sc phocomelia syndrome
Robinow syndrome
Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals
Robinow syndrome, with brachy-syn-polydactyly
Robinow-sorauf syndrome
Rod-cone dystrophy
Roifman syndrome
Roifman-chitayat syndrome
Rolandic epilepsy
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer`s cramp syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Romano-ward syndrome
Rosette-forming glioneuronal neoplasm
Rotary nystagmus
Rotator cuff syndrome
Rothmund-thomson syndrome
Rotor syndrome
Roussy-levy syndrome
Royer syndrome
Rubinstein-taybi syndrome
Rubral tremor
Rudiger syndrome
Ruijs-aalfs syndrome
Rupture of artery
Russell-silver syndrome
S-adenosylhomocysteine hydrolase deficiency
Saccharopinuria
Sacral agenesis
Sacral agenesis with vertebral anomalies
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Sacral defect with anterior meningocele
Sacral dysgenesis
Sacral lipoma
Sacrococcygeal teratoma
Sacroiliac arthritis
Sacroiliitis
Saddan dysplasia
Saethre-chotzen syndrome
Saethre-chotzen syndrome with eyelid anomalies
Sagittal craniosynostosis
Sagittal sinus thrombophlebitis
Sagittal sinus thrombosis
Salaam seizures
Saldino-mainzer syndrome
Salivary gland carcinoma
Salivary gland neoplasm
Salivary gland oncocytoma
Salla disease
Salt and pepper developmental regression syndrome
Sandhoff disease
Sanfilippo syndrome
Sarcoglycanopathy
Sarcoidosis
Sarcoma
Sarcoma of kidney
Sarcoma of thorax
Sarcosinemia
Sarcotubular myopathy
Satb2 associated disorder
Saxonal neuropathy
Say meyer syndrome
Scalp-ear-nipple syndrome
Scaphocephaly
Scaphocephaly, maxillary retrusion, and mental retardation
Scapular exostoses
Scapuloperoneal muscular dystrophy
Scapuloperoneal muscular dystrophy, x-linked
Scapuloperoneal myopathy
Scapuloperoneal myopathy, x-linked
Scapuloperoneal spinal muscular atrophy
Scheie syndrome
Scheuermann`s disease
Schilbach-rott syndrome
Schilder disease
Schimke immuno-osseous dysplasia
Schinzel-giedion syndrome
Schizencephaly
Schizoaffective disorder
Schizophrenia
Schizophreniform disorders
Schmorl`s nodes
Schneckenbecken dysplasia
Schnitzler syndrome
Schnyder corneal dystrophy
Schnyder crystalline corneal dystrophy
Schopf-schulz-passarge syndrome
Schwannoma
Schwannomatosis
Schwartz-jampel syndrome
Sciatic nerve neuralgia-neuritis
Sciatic nerve palsy
Sciatic neuritis
Sciatic neuropathy
Scimitar syndrome
Scleral staphyloma
Scleritis
Sclerocornea
Sclerocystic ovaries
Sclerodactyly
Scleroderma
Sclerosing cholangitis
Sclerosis of hand bone
Sclerosteosis
Scoliosis
Scott syndrome
Sea-blue histiocytosis
Seasonal affective disorder
Sebaceous adenocarcinoma
Sebaceous gland neoplasms
Sebastian syndrome
Sebocystomatosis
Seborrhea-like dermatitis with psoriasiform elements
Seborrheic dermatitis
Seborrheic keratosis
Seckel syndrome
Secondary physiologic amenorrhea
Secretory adrenocortical adenoma
Secretory component deficiency
Secretory meningioma
Sectoral retinitis pigmentosa
Secundum atrial septal defect
Segawa syndrome
Segment dysgenesis
Segmental dysfunction
Segmental laurin-sandrow syndrome
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome
Seizure
Seizures, cortical blindness, and microcephaly syndrome
Seizures, scoliosis, and macrocephaly syndrome
Seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Selective immunoglobulin a deficiency
Self-healing collodion baby
Semantic dementia
Semilobar holoprosencephaly
Seminoma
Sengers syndrome
Senile cardiac amyloidosis
Senile dementia
Senile paranoid dementia
Senile plaques
Senior-boichis syndrome
Senior-loken syndrome
Sensation disorders
Sensorimotor neuropathy
Sensorineural deafness with dilated cardiomyopathy
Sensorineural deafness with mild renal dysfunction
Sensorineural hearing loss
Sensorineural hearing loss-thrombocytopenia syndrome
Sensorineural polyneuropathy
Sensory and autonomic neuropathy
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Sensory disorders
Sensory exotropia
Sensory neuropathy
Sensory neuropathy, hereditary
Senter syndrome
Separation anxiety disorder
Septal hypertrophy
Septic phlebitis, sagittal sinus
Septic sacroiliitis
Septic toxemia
Septicemia
Septo-optic dysplasia
Septopreoptic holoprosencephaly
Serkal syndrome
Seronegative polyarthritis
Serous adenocarcinoma of ovary
Serous cystadenoma of ovary
Serous retinal detachment
Serrated polyposis syndrome
Sertoli cell neoplasm
Sertoli cell tumor
Sertoli-leydig cell tumor
Serum sickness
Sesame syndrome
Sessile serrated polyposis cancer syndrome
Severe acute respiratory syndrome
Severe combined immunodeficiency disease
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Severe congenital hypochromic anemia with ringed sideroblasts
Severe congenital neutropenia, x-linked
Sex cord-stromal tumor
Sex differentiation disorders
Sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs
Sexual arousal disorder
Sexual dysfunction
Sexual infantilism
Sezary syndrome
Shagreen patch
Shaheen syndrome
Shared paranoid disorder
Shashi-pena syndrome
Sheehan syndrome
Sheldon-hall syndrome
Shift-work sleep disorder
Shone complex
Short chain acyl-coa dehydrogenase deficiency
Short clavicles
Short femur
Short qt syndrome
Short rib-polydactyly syndrome
Short sleeper syndromes
Short stature with microcephaly and distinctive facies
Short stature with nonspecific skeletal abnormalities
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities(sams)
Short stature, brachydactyly, intellectual developmental disability, and seizures
Short stature, developmental delay, and congenital heart defects
Short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomalies
Short stature, idiopathic, autosomal
Short stature, idiopathic, x-linked
Short stature, microcephaly, and endocrine dysfunction
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
Short stature, optic nerve atrophy, and pelger-huet anomaly
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Short stature-advanced bone age osteoarthritis syndrome
Short stature-delayed bone age
Short stature-optic atrophy-pelger-huet anomaly syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Short syndrome
Short-limb dwarfism
Short-rib thoracic dysplasia with or without polydactyly
Short-rib thoracic dysplasia with polydactyly
Short-rib thoracic dysplasia without polydactyly
Short-trunk short stature
Shoulder flexion contracture
Shox-related short stature
Shprintzen syndrome
Shprintzen-goldberg syndrome
Shwachman syndrome
Shwachman-diamond syndrome
Shy-drager syndrome
Sialic acid storage disease
Sialidase deficiency
Sialidosis
Sialuria
Sick building syndrome
Sick sinus syndrome
Sick sinus syndrome with cardiac noncompaction and ascending aorta dilation
Sickle cell anemia
Sickle cell-beta-thalassemia disease
Sickle cell-hemoglobin disease
Sickle cell-hemoglobin o arab disease
Sideroblastic anemia
Sideroblastic anemia and spinocerebellar ataxia, x-linked
Sideroblastic anemia, x-linked
Sifrim-hitz-weiss syndrome
Sigmoid cancer
Silver-russell syndrome
Simpson-golabi-behmel syndrome
Single lineage myelodysplasia
Single ventricle defect
Singleton merten syndrome
Sinoatrial block
Sinoatrial node dysfunction and deafness
Sinonasal undifferentiated carcinoma
Sinus histiocytosis
Sinus node dysfunction
Sinus tachycardia
Sinus thrombosis, intracranial
Sinus venosus atrial septal defect
Sinusitis
Sirenomelia
Sitosterolemia
Situs ambiguus
Situs inversus
Sjogren-larsson syndrome
Sjogren`s syndrome
Skeletal defects, genital hypoplasia, and mental retardation
Skeletal dysplasia
Skeletal dysplasia with acanthosis nigricans
Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome
Skeletal ewing sarcoma
Skeletal muscle steatosis
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Skewed x inactivation
Skin cancer
Skin carcinoma
Skin creases, congenital symmetric circumferential
Skin diseases, vascular
Skin erosion
Skin fragility-woolly hair syndrome
Skin lesion
Skin melanoma
Skin neoplasms
Skin-picking
Skraban-deardorff syndrome
Sleep apnea
Sleep disorders
Sleep phase syndrome
Sleep wake disorders
Slipped capital femoral epiphyses
Slowed nerve conduction velocity
Small fiber neuropathy
Small intestinal carcinoma
Small intestinal dysmotility
Small intestinal neuroendocrine neoplasm
Small intestine cancer
Small patella syndrome
Small vessel vasculitis
Smith-kingsmore syndrome
Smith-lemli-opitz syndrome
Smith-magenis syndrome
Smith-mccort dysplasia
Smoldering systemic mastocytosis
Sneddon syndrome
Snijders blok-campeau syndrome
Snowflake vitreoretinal degeneration
Social anhedonia
Social communication disorder
Sodium channelopathy-related small fiber neuropathy
Soft tissue neoplasms
Solitary fibrous tumor
Somatic leydig cell adenoma with male-limited precocious puberty
Somatic lymphoma
Somatic spitz nevus
Somatization disorder
Somatoform disorder
Somatosensory disorders
Somatotroph adenoma
Somatotropin deficiency
Sorsby fundus dystrophy
Sotos` syndrome
Southeast asian ovalocytosis
Spade-like hand
Spasms syndrome
Spasms x-linked
Spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Spasmus nutans
Spastic ataxia
Spastic ataxia of charlevoix-saguenay
Spastic ataxia with leukoencephalopathy
Spastic ataxia, with hypomylineating leukodystrophy
Spastic ataxia-dysarthria
Spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Spastic ataxia-optic atrophy-dysarthria syndrome
Spastic cerebral palsy
Spastic diplegia
Spastic paralysis
Spastic paraplegia
Spastic paraplegia and psychomotor retardation with or without seizures
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Spastic paraplegia, optic atrophy, and neuropathy
Spastic paraplegia, x-linked
Spastic paraplegia-paget disease of bone syndrome
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Spastic quadriplegia
Spastic tetraparesis
Spastic tetraplegia-thin corpus callosum microcephaly syndrome
Spasticity with hyperglycinemia
Spasticity-intellectual disability-epilepsy syndrome, x-linked
Specific granule deficiency
Specific language impairment
Specific learning disorder
Speckled corneal dystrophy
Spectrin-associated cerebellar ataxia
Speech delay
Speech disorders
Spermatic cord torsion
Spermatocele
Spermatocytic seminoma
Spermatogenic failure
Spermatogenic failure, x-linked
Sphenoid wing meningioma
Spherocytosis
Spheroid body myopathy
Sphincter of oddi dyskinesia
Sphingolipid activator protein 1 deficiency
Sphingomyelinase deficiency
Spider hemangioma
Spina bifida
Spina bifida cystica
Spina bifida occulta
Spina bifida of cervical region
Spinal arteriovenous malformation
Spinal cord compression
Spinal cord diseases
Spinal cord myelodysplasia
Spinal cord myoclonus
Spinal cord neoplasms
Spinal hemangioblastoma
Spinal meningioma
Spinal muscular atrophy
Spinal muscular atrophy with congenital bone fractures
Spinal muscular atrophy with respiratory distress
Spinal muscular atrophy, lower extremity-predominant
Spinal muscular atrophy, x-linked
Spinal muscular atrophy,distal
Spinal muscular atrophy-myoclonic epilepsy syndrome
Spinal neurofibromas
Spinal stenosis of lumbar region
Spinobulbar muscular atrophy
Spinocerebellar ataxia
Spinocerebellar ataxia with epilepsy
Spinocerebellar ataxia, with axonal neuropathy
Spinocerebellar ataxia, with neurodevelopmental deficits
Spinocerebellar ataxia, x-linked
Spinocerebellar ataxia-blindness-deafness syndrome
Spinocerebellar degeneration
Spinocerebellar tract disease in lower limbs
Spitz nevus
Splanchnic vein thrombosis
Splenic diseases
Splenic hypoplasia
Splenic neoplasms
Split hand foot deformity
Split hand-split foot-deafness syndrome
Split-foot malformation with mesoaxial polydactyly
Split-hand-foot malformation
Split-hand-foot malformation with long bone deficiency
Split-hand-foot malformation with sensorineural hearing loss
Sponastrime dysplasia
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondyloarthritis
Spondylocarpotarsal synostosis syndrome
Spondylocheirodysplasia, ehlers-danlos syndrome-like
Spondylocostal dysostosis
Spondylodysplastic ehlers-danlos syndrome
Spondyloenchondrodysplasia
Spondyloenchondrodysplasia with abnormal dentition
Spondyloenchondrodysplasia with immune dysregulation
Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia, x-linked
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia nephrotic syndrome
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepiphyseal dysplasia with osteoarthritis
Spondylolisthesis
Spondylolysis
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondyloocular syndrome
Spondyloperipheral dysplasia
Spondyloperipheral dysplasia-short ulna syndrome
Spongiform encephalopathy with neuropsychiatric features
Spongioblastoma
Spontaneous pneumothorax
Sporadic fatal insomnia
Sprengel deformity
Squalene synthase deficiency
St segment elevation myocardial infarction
Stable angina
Stammering
Stankiewicz-isidor syndrome
Stapes ankylosis with broad thumb and toes
Staphyloma posticum
Stargardt disease
Stark-kaeser syndrome
Stat3 deficiency
Status cribrosum
Status dysraphicus
Status epilepticus
Status marmoratus
Status migrainosus
Steatocystomas
Steel syndrome
Steinert myotonic dystrophy
Stenosis of external auditory canal
Stenosis of the medullary cavity of the long bones
Stereotyped behavior
Stereotypy
Sterile multifocal osteomyelitis with periostitis and pustulosis
Sternocleidomastoid amyotrophy
Steroid resistant nephrotic syndrome
Steroid sulfatase deficiency disease
Steroid-sensitive nephrotic syndrome
Stevens-johnson syndrome
Stickler syndrome
Stiff skin syndrome
Stiff-person syndrome
Still disease
Sting-associated vasculopathy
Stocco dos santos syndrome
Stomach carcinoma
Stomach diseases
Stomach neoplasms
Stomatitis
Stomatocytosis
Stomatognathic diseases
Stomatognathic system abnormalities
Storage pool disease of platelets
Stormorken syndrome
Stormorken-sjaastad-langslet syndrome
Strabismus
Strawberry nevus of skin
Streak ovary
Stress disorder
Stress-induced polymorphic ventricular tachycardia
Striatal degeneration
Striatal necrosis
Striatal neurodegeneration
Striate palmoplantar keratoderma
Striatonigral degeneration
Stroke
Stromal corneal dystrophy
Stromme syndrome
Structural heart defects and renal anomalies syndrome
Strudwick syndrome
Stunned myocardium
Stupor
Sturge-weber syndrome
Stuttering
Stuve-wiedemann syndrome
Subacute gangliosidosis
Subaortic stenosis
Subarachnoid hemorrhage
Subcapsular cataract
Subclinical hypothyroidism
Subclinical seizure
Subcortical band heterotopia
Subcortical cerebral atrophy
Subcortical dementia
Subcortical infarcts
Subcortical vascular dementia
Subcutaneous calcification
Subcutaneous hemorrhage
Subcutaneous lipoma
Subcutaneous panniculitis-like t-cell lymphoma
Subfertility
Submucosal cleft palate
Submucous cleft of soft and hard palate
Subungual hyperkeratosis
Succinate-coenzyme q reductase deficiency
Succinic semialdehyde dehydrogenase deficiency
Succinyl-coa acetoacetate transferase deficiency
Sucrase-isomaltase deficiency
Sudden cardiac failure
Sudden episodic apnea
Sulfatidosis
Sulfite oxidase deficiency
Sulfocysteinuria
Sulfoiduronate sulfatase deficiency
Superficial epidermolytic ichthyosis
Superficial thrombophlebitis
Superior vena cava syndrome
Superior vena cava thrombosis
Supernumerary mesiodens tooth
Supernumerary metacarpal bone
Supernumerary vertebra
Suppurative arthritis
Supranuclear gaze palsy
Supranuclear ophthalmoplegia
Supranuclear palsy
Supranuclear palsy-corticobasal syndrome
Supranuclear palsy-parkinsonism syndrome
Supranuclear palsy-progressive non-fluent aphasia syndrome
Supranuclear palsy-pure akinesia with gait freezing syndrome
Supratentorial neoplasm
Supravalvar aortic stenosis
Supraventricular tachycardia
Surfactant metabolism dysfunction, pulmonary
Sutural cataract
Sveinsson chorioretinal atrophy
Sweat gland neoplasms
Sweeney-cox syndrome
Sweet syndrome
Swyer syndrome
Symmetric diabetic proximal motor neuropathy
Symmetric lesions of the basal ganglia
Symmetric spinal nerve root neurofibromas
Symmetrical dyschromatosis of extremities
Symphalangism
Symphalangism-brachydactyly syndrome
Symptomatic west syndrome
Synaptic congenital myasthenic syndromes
Syndactyly
Syndactyly of fingers
Syndactyly of the toes
Syndactyly, mesoaxial synostotic, with phalangeal reduction
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic ichthyosis, x-linked
Syndromic mental retardation
Syndromic mental retardation, x-linked
Syndromic microphthalmia
Syndromic multisystem autoimmune disease
Syndromic sensorineural deafness
Synechiae
Synophrys
Synostotic anterior plagiocephaly
Synostotic posterior plagiocephaly
Synotus
Synovial hypertrophy
Synovial sarcoma
Synovitis
Synovitis, acne, pustulosis, hyperostosis, and osteitis (sapho) syndrome
Synpolydactyly
Syringomyelia
Systemic carnitine deficiency
Systemic hemosiderosis
Systemic hyalinosis
Systemic lupus erythematosus
Systemic mastocytosis
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Systemic mastocytosis with associated hematologic neoplasm
T-cell immunodeficiency disorders
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell leukemia
T-cell lymphocytic leukemia
T-cell lymphoma
T-cell lymphoma/leukemia
T-cell prolymphocytic leukemia
T-cell receptor alpha/beta deficiency
Takayasu arteritis
Takenouchi-kosaki syndrome
Talipes
Talipes calcaneovalgus
Talipes equinovalgus
Talipes transversoplanus
Talipes valgus
Tall stature, scoliosis, macrodactyly of great toe syndrome
Tangier disease
Tardbp-related frontotemporal dementia
Tarp syndrome
Tarsal coalition
Tarsal sclerosis
Tarsal-carpal coalition syndrome
Taste disorders
Tatton brown rahman syndrome
Tauopathies
Taurodontism
Taussig-bing anomaly
Tay-sachs disease
Teebi syndrome
Telangiectasia
Telangiectasia and cancer syndrome
Telangiectasia and oropharyngeal cancer predisposition syndrome
Telangiectasia, hereditary hemorrhagic
Temperature-sensitive oculocutaneous albinism
Temple syndrome
Temple-baraitser syndrome
Temporal arteritis
Temporal cortical atrophy
Temporal hypotrichosis
Temporal lobe epilepsy
Temporal pallor of optic disc
Temporomandibular ankylosis
Temporomandibular joint disorders
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendinitis
Tendinopathy
Tenorio syndrome
Ter haar syndrome
Teratoid rhabdoid tumor
Teratoid tumor
Teratoma
Teratozoospermia
Terminal osseous dysplasia and pigmentary defects
Testicular adrenal rest tumor
Testicular anomalies with or without congenital heart disease
Testicular atrophy
Testicular carcinoma
Testicular diseases
Testicular dysgenesis
Testicular feminization
Testicular germ cell tumor
Testicular gonadoblastoma
Testicular hydrocele
Testicular hypogonadism
Testicular microlithiasis
Testicular neoplasms
Testicular regression syndrome
Testicular seminomatous germ cell tumor
Testotoxicosis
Tetraamelia
Tetraamelia syndrome
Tetralogy of fallot
Tetraparesis
Tetraphocomelia
Teunissen cremers syndrome
Thalassemia
Thanatophoric dysplasia
Thauvin-robinet-faivre syndrome
Thiamine deficiency
Thiamine metabolism dysfunction syndrome
Thiamine responsive megaloblastic anemia syndrome
Thiel-behnke corneal dystrophy
Thin basement membrane disease
Thiopurine methyltransferase deficiency
Thomsen and becker disease
Thoracic aortic aneurysm
Thoracic aortic aneurysm and aortic dissection
Thoracic diseases
Thoracic dysplasia
Thoracic hemivertebra
Thoracic hypoplasia
Thoracic neoplasms
Thoracolumbar scoliosis
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Thrombasthenia
Thrombocythemia
Thrombocythemia with distal limb defects
Thrombocytopenia
Thrombocytopenia with congenital dyserythropoietic anemia
Thrombocytopenia with normal platelets
Thrombocytopenia with normal platelets, x-linked
Thrombocytopenia with platelet secretion defect
Thrombocytopenia, anemia, and myelofibrosis
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Thrombocytopenia, with or without dyserythropoietic anemia
Thrombocytopenia, x-linked
Thrombocytopenia-absent radius syndrome
Thrombocytosis
Thromboembolic stroke
Thrombomodulin-related bleeding disorder
Thrombophilia
Thrombophilia, x-linked
Thrombosis
Thrombosis of retinal vein
Thrombotic microangiopathies
Thrombotic thrombocytopenic purpura
Thromboxane synthetase deficiency
Thumb aplasia
Thymic carcinoma
Thymic tumor
Thymoma
Thymus hyperplasia
Thymus neoplasms
Thyroglossal cyst
Thyroid adenoma
Thyroid agenesis
Thyroid cancer
Thyroid carcinoma
Thyroid carcinoma with thyrotoxicosis
Thyroid crisis
Thyroid diseases
Thyroid dysgenesis
Thyroid dyshormonogenesis
Thyroid eye disease
Thyroid gland follicular adenoma
Thyroid gland oncocytic adenoma
Thyroid hemiagenesis
Thyroid hormone metabolism
Thyroid hormone resistance
Thyroid hyperplasia
Thyroid hypoplasia
Thyroid neoplasm
Thyroid nodule
Thyroid papillary adenoma
Thyroiditis
Thyrotoxic periodic paralysis
Thyrotoxicosis
Thyrotoxicosis with toxic single thyroid nodule
Thyrotropin-releasing hormone resistance
Tibial aplasia-ectrodactyly syndrome
Tibial hemimelia
Tibial muscular dystrophy
Tic disorder
Tietz syndrome
Timothy syndrome
Toe extensor amyotrophy
Toe syndactyly, telecanthus, and anogenital and renal malformations
Tongue carcinoma
Tongue neoplasms
Tonic-clonic epilepsy
Tooth agenesis
Tooth agenesis, x-linked
Tooth development and eruption disorder
Tooth diseases
Torg-winchester syndrome
Toriello-carey syndrome
Toriello-lacassie-droste syndrome
Torre-muir syndrome
Torsades de pointes
Total hexosaminidase deficiency
Total intestinal aganglionosis
Total kininogen deficiency
Totally absent pericardium
Tourette syndrome
Townes syndrome
Townes-brocks syndrome
Townes-brocks-branchiootorenal-like syndrome
Toxic goiter
Toxic shock syndrome
Tracheal stenosis
Tracheobronchomalacia
Tracheoesophageal fistula
Tracheomalacia
Transaldolase deficiency
Transcobalamin deficiency
Transient hyperbilirubinemia
Transient hyperphenylalaninemia
Transient hypertriglyceridemia and hepatosteatosis
Transient hypothyroxinaemia of prematurity
Transient ischemic attack
Transient myeloproliferative disorder of down syndrome
Transient myeloproliferative syndrome
Transient nephrotic syndrome
Transient psychotic disorder
Transient situational disturbance
Transient tic disorder
Transitional atrioventricular canal defect
Transitional meningioma
Transketolase deficiency
Transposition of great vessels
Transthyretin-related amyloid cardiomyopathy
Treacher collins syndrome
Treatment related secondary malignancy
Trehalase deficiency
Tremor
Tremor-ataxia-central hypomyelination syndrome
Trichiasis
Trichilemmoma
Trichodentoosseous syndrome
Trichodysplasia
Trichohepatoenteric syndrome
Trichohepatoneurodevelopmental syndrome
Trichomegaly
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Trichorhinophalangeal dysplasia
Trichorrhexis nodosa syndrome
Trichothiodystrophy
Trichotillomania
Tricuspid atresia
Tricuspid valve insufficiency
Tricuspid valve prolapse
Tricuspid valve stenosis
Trifascicular block
Trifunctional protein deficiency
Trigeminal neuralgia
Trigger finger disorder
Triglyceride deposit cardiomyovasculopathy
Triglyceride storage disease with ichthyosis
Trigonocephaly
Trilateral retinoblastoma
Trimethylaminuria
Triosephosphate isomerase deficiency
Triphalangeal thumb-polysyndactyly syndrome
Triple a syndrome
Triple negative breast neoplasms
Trismus
Trismus-pseudocamptodactyly syndrome
Trisomy
Trisomy 21
Trisomy xq28
Tritanopia
Tropical calcific pancreatitis
Tropical pancreatitis
Troyer syndrome
True hermaphroditism
Tsh-secreting pituitary adenoma
Tuberous sclerosis
Tuberous xanthoma
Tubular aggregate myopathy
Tubulinopathy-associated dysgyria
Tubulointerstitial kidney disease
Tumor
Tumor lysis syndrome
Tumor of rete testis
Tumor predisposition syndrome
Tumoral calcinosis
Tumors of adrenal cortex
Turcot syndrome
Turcot syndrome with polyposis
Turner syndrome
Turner syndrome, male
Two-raphe bicuspid aortic valve
Typhlitis
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Tyrosinemia
Udpglucose 4-epimerase deficiency disease
Uhl anomaly
Ulcer of esophagus
Ulcerative colitis
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulnar-fibular ray defect and brachydactyly
Ulnar-mammary syndrome
Uncombable hair syndrome
Undifferentiated ovarian carcinoma
Unilateral lobar pulmonary agenesis
Unilateral multicystic dysplastic kidney
Upgaze palsy
Upper aerodigestive tract neoplasms
Upper limb peromelia
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Urachal cyst
Uranostaphyloschisis
Uremia
Ureter duplex
Ureteral calculi
Ureteral neoplasms
Ureterocele
Urethral atresia
Urethral neoplasms
Urethral obstruction
Uric acid renal calculus
Uric acid urolithiasis
Urinary bladder calculi
Urinary bladder cancer
Urinary bladder diseases
Urinary tract cancer
Urination disorders
Urocanase deficiency
Urofacial syndrome
Urogenital abnormalities
Urolithiasis
Urologic neoplasms
Urothelial carcinoma
Urticaria
Urticaria pigmentosa
Usher syndrome
Uterine anomalies
Uterine cervicitis
Uterine cervix neoplasm
Uterine diseases
Uterine fibroids
Uv-sensitive syndrome
Uveal melanoma
Uveitis
Uveomeningoencephalitic syndrome
Uveoretinal coloboma
Vacterl association
Vacterl association, x-linked, with or without hydrocephalus
Vacuolar myopathy
Vacuolar myopathy with casq1 aggregates
Vaginal neoplasms
Vaginitis
Van buchem disease
Van den ende-gupta syndrome
Van der woude syndrome
Variant abeta2m amyloidosis
Varicocele
Variegate porphyria
Vascular dementia
Vascular diseases
Vascular ectasia
Vascular leukoencephalopathy
Vascular neoplasm
Vascular ring
Vasculitis
Vasculopathy, retinal, with cerebral leukodystrophy
Vater association with macrocephaly and ventriculomegaly
Vein of galen aneurysm
Velopharyngeal insufficiency
Venous insufficiency
Venous malformation
Ventricular arrhythmia
Ventricular cardiomyopathy
Ventricular congenital hypertrophy
Ventricular failure
Ventricular fibrillation
Ventricular hypertrophy
Ventricular noncompaction
Ventricular preexcitation
Ventricular septal defect
Ventricular septal hypertrophy
Ventricular systolic dysfunction
Ventricular tachycardia
Ventricular tachycardia, with or without muscle weakness
Ventriculomegaly with cystic kidney disease
Verrucous epidermal nevus
Vertebral anomalies and variable endocrine and t-cell dysfunction
Vertebral artery dissection
Vertebrobasilar dolichoectasia
Vertical nystagmus
Vertical talus
Ververi-brady syndrome
Vesicoureteral reflux
Vesicovaginal fistula
Vesicular stomatitis
Vestibular diseases
Vibratory angioedema
Vibratory urticaria
Vici syndrome
Vipoma
Visceral angiomatosis
Visceral myopathy
Visceral neuropathy
Vision disability
Visual auras
Visual cortex disease
Visual impairment and progressive phthisis bulbi
Vitamin a deficiency
Vitamin b12-responsive methylmalonic acidemia
Vitamin d deficiency
Vitamin d-dependent rickets
Vitamin e deficiency
Vitelliform macular dystrophy
Vitiligo
Vitiligo-associated systemic lupus erythematosus
Vitreoretinal degeneration
Vitreoretinochoroidopathy
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Vitritis
Vocal cord and pharyngeal distal myopathy
Vocal cord paralysis
Vogt-koyanagi-harada disease
Vohwinkel syndrome
Von hippel-lindau syndrome
Von willebrand disorder
Vulval varices
Vulvar adenocarcinoma of mammary gland
Vulvar lichen sclerosus
Waardenburg syndrome
Wagner syndrome
Wagr syndrome
Waisman syndrome
Waldenstrom`s macroglobulinemia
Walker-warburg congenital muscular dystrophy
Walker-warburg syndrome
Warburg micro syndrome
Warsaw breakage syndrome
Weaver syndrome
Webb-dattani syndrome
Wegener-like granulomatosis
Weill-marchesani syndrome
Welander distal myopathy
Werner syndrome
Wernicke encephalopathy
West syndrome
Weyers acrofacial dysostosis
Whispering dysphonia
White sponge nevus
White-sutton syndrome
Wieacker-wolff syndrome
Wiedemann-rautenstrauch syndrome
Wiedemann-steiner syndrome
Wildervanck`s syndrome
Williams syndrome
Wilms tumor
Wilson disease
Wilson-turner syndrome
Winchester syndrome
Wiskott-aldrich 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, with or without hypotrichosis
Worth disease
Wrinkly skin syndrome
Writer`s cramp
Xanthinuria
Xanthoma
Xanthoma tendinosum
Xanthomatosis
Xanthomatous meningioma
Xerocytosis
Xeroderma
Xeroderma pigmentosum
Xeroderma pigmentosum-cockayne syndrome complex
Xerotic keratitis
Xfe progeroid syndrome
Xia-gibbs syndrome
Xp11.23-p11.22 duplication syndrome
Xp21 contiguous gene deletion syndrome
Xp21 deletion syndrome
Xq25 duplication syndrome
Xq25 triplication syndrome
Xq27.3q28 duplication syndrome
Xx males
Yao syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji okuno syndrome
You-hoover-fong syndrome
Yuan-harel-lupski syndrome
Yunis varon syndrome
Zap70 deficiency
Zebra body myopathy
Zellweger syndrome
Zellweger-like syndrome
Zimmerman laband syndrome
Zinc deficiency
Zollinger-ellison syndrome
Zygodactyly
Selected Diseases
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Analysis Method
Curated
Curated + Text Mining
- Comprehensive analysis including text mining data (computationally intensive, may take longer)
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