Diseases associated to hPSCreg cell lines

7q11.23 microduplication syndrome

Achromatopsia achm, complete or incomplete color blindness, pingelapese blindness, rod monochromacy, rod monochromatism, total color blindness

achm, complete or incomplete color blindness, pingelapese blindness, rod monochromacy, rod monochromatism, total color blindness

Activated PI3K-delta syndrome apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

apds, senescent t-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

Acute lymphoblastic leukemia acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukemia, acute lymphoid leukemia

acute lymphatic leukemia, acute lymphoblastic leukaemia, acute lymphocytic leukemia, acute lymphoid leukemia

Acute myeloid leukemia acute myeloblastic leukemia, acute myelocytic leukemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

acute myeloblastic leukemia, acute myelocytic leukemia, acute myelogenous leukemia, acute myeloid leukaemia, aml

ADNP syndrome adnp-related syndromic intellectual disability-autism spectrum disorder, helsmoortel-van der aa syndrome, hvdas

adnp-related syndromic intellectual disability-autism spectrum disorder, helsmoortel-van der aa syndrome, hvdas

adrenoleukodystrophy adrenoleukodystrophy, ald, bronze schilder disease, diffuse sclerosis, encephalitis periaxialis concentrica, encephalitis periaxialis, schilder's, schilder disease, siemerling-creutzfeldt disease, sudanophilic cerebral sclerosis, x-linked adrenoleukodystrophy

adrenoleukodystrophy, ald, bronze schilder disease, diffuse sclerosis, encephalitis periaxialis concentrica, encephalitis periaxialis, schilder's, schilder disease, siemerling-creutzfeldt disease, sudanophilic cerebral sclerosis, x-linked adrenoleukodystrophy

age-related macular degeneration aamd - age related macular degeneration, age relat maculopathies, age relat maculopathy, age related macular degeneration, age related macular degeneration (disorder) [ambiguous], age related maculopathies, age related maculopathy, age-related macular degeneration, age-related macular degeneration (disorder), age-related macular degenerations, age-related maculopathies, age-related maculopathy, amd, amd - age-related macular degeneration, amended, armd, armd - age-related macular degeneration, degeneration, age-related macular, degeneration, macular, degenerations, age-related macular, degenerations, macular, dystrophies, macular, dystrophy, macular, macular degeneration, macular degeneration (disorder), macular degeneration (senile) of retina, unspecified, macular degeneration nos, macular degeneration, age-related, macular degenerations, macular degenerations, age-related, macular dystrophies, macular dystrophy, maculopathies age relat, maculopathies, age related, maculopathies, age-related, maculopathy age relat, maculopathy, age related, maculopathy, age-related, senile macular degeneration, senile macular degeneration of retina, senile macular retinal degeneration, smd - senile macular degeneration, unspecified senile macular degeneration

aamd - age related macular degeneration, age relat maculopathies, age relat maculopathy, age related macular degeneration, age related macular degeneration (disorder) [ambiguous], age related maculopathies, age related maculopathy, age-related macular degeneration, age-related macular degeneration (disorder), age-related macular degenerations, age-related maculopathies, age-related maculopathy, amd, amd - age-related macular degeneration, amended, armd, armd - age-related macular degeneration, degeneration, age-related macular, degeneration, macular, degenerations, age-related macular, degenerations, macular, dystrophies, macular, dystrophy, macular, macular degeneration, macular degeneration (disorder), macular degeneration (senile) of retina, unspecified, macular degeneration nos, macular degeneration, age-related, macular degenerations, macular degenerations, age-related, macular dystrophies, macular dystrophy, maculopathies age relat, maculopathies, age related, maculopathies, age-related, maculopathy age relat, maculopathy, age related, maculopathy, age-related, senile macular degeneration, senile macular degeneration of retina, senile macular retinal degeneration, smd - senile macular degeneration, unspecified senile macular degeneration

Allan-Herndon-Dudley Syndrome allan-herndon-dudley syndrome, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

allan-herndon-dudley syndrome, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

Allan-Herndon-Dudley syndrome ahds, mct8 deficiency, monocarboxylate transporter 8 deficiency, x-linked intellectual disability-hypotonia syndrome

ahds, mct8 deficiency, monocarboxylate transporter 8 deficiency, x-linked intellectual disability-hypotonia syndrome

Alpha-1-antitrypsin deficiency

Alpha-thalassemia alpha thalassaemia, alpha thalassemia, alpha-thalassemia, α-thalassemia

alpha thalassaemia, alpha thalassemia, alpha-thalassemia, α-thalassemia

Alport syndrome alport deafness-nephropathy, alport hearing loss-nephropathy

alport deafness-nephropathy, alport hearing loss-nephropathy

Alzheimer's Disease alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease

alzheimer dementia, alzheimer disease, alzheimer's dementia, alzheimer's disease

Alzheimer's disease ad, ad - alzheimer's disease, alzheimer dementia, alzheimer dementia, presenile, alzheimer dis, alzheimer disease, alzheimer type dementia, alzheimer's, alzheimer's dementia, alzheimer's disease, alzheimer's disease (disorder), alzheimer's disease, nos, alzheimers, alzheimers dementia, alzheimers dis, alzheimers disease, dat - dementia alzheimer's type, dementia in alzheimer's disease, dementia in alzheimer's disease (disorder), dementia in alzheimer's disease, unspecified (disorder), dementia of the alzheimer's type, dementia, alzheimer type, dementia, presenile, dementia, presenile alzheimer, disease, alzheimer, disease, alzheimer's, presenile alzheimer dementia, sporadic alzheimer's disease, [x]dementia in alzheimer's disease, [x]dementia in alzheimer's disease (disorder)

ad, ad - alzheimer's disease, alzheimer dementia, alzheimer dementia, presenile, alzheimer dis, alzheimer disease, alzheimer type dementia, alzheimer's, alzheimer's dementia, alzheimer's disease, alzheimer's disease (disorder), alzheimer's disease, nos, alzheimers, alzheimers dementia, alzheimers dis, alzheimers disease, dat - dementia alzheimer's type, dementia in alzheimer's disease, dementia in alzheimer's disease (disorder), dementia in alzheimer's disease, unspecified (disorder), dementia of the alzheimer's type, dementia, alzheimer type, dementia, presenile, dementia, presenile alzheimer, disease, alzheimer, disease, alzheimer's, presenile alzheimer dementia, sporadic alzheimer's disease, [x]dementia in alzheimer's disease, [x]dementia in alzheimer's disease (disorder)

amyotrophic lateral sclerosis als, lou gehrig's disease, motor neuron disease, bulbar

als, lou gehrig's disease, motor neuron disease, bulbar

Amyotrophic lateral sclerosis als, charcot disease, lou gehrig disease

als, charcot disease, lou gehrig disease

Amyotrophic Lateral Sclerosis als, amyotrophic lateral sclerosis, lou gehrig disease

als, amyotrophic lateral sclerosis, lou gehrig disease

amyotrophic lateral sclerosis als, als (amyotrophic lateral sclerosis), als - amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis (disorder), amyotrophic lateral sclerosis with dementia, amyotrophic lateral sclerosis, guam form, amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam, amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, amyotrophic sclerosis, bulbar motor neuron disease, charcot disease, dementia with amyotrophic lateral sclerosis, disease, lou-gehrigs, gehrig disease, gehrig's disease, gehrigs dis, gehrigs disease, guam form of amyotrophic lateral sclerosis, lateral scleroses, amyotrophic, lou gehrig dis, lou gehrig disease, lou gehrig's disease, lou gehrigs dis, lou gehrigs disease, lou-gehrigs disease, motor neuron dis amyotrophic lateral sclerosis, motor neuron disease, amyotrophic lateral sclerosis, motor neuron disease, bulbar, sclerosis, amyotrophic lateral

als, als (amyotrophic lateral sclerosis), als - amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis (disorder), amyotrophic lateral sclerosis with dementia, amyotrophic lateral sclerosis, guam form, amyotrophic lateral sclerosis, parkinsonism/dementia complex of guam, amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, amyotrophic sclerosis, bulbar motor neuron disease, charcot disease, dementia with amyotrophic lateral sclerosis, disease, lou-gehrigs, gehrig disease, gehrig's disease, gehrigs dis, gehrigs disease, guam form of amyotrophic lateral sclerosis, lateral scleroses, amyotrophic, lou gehrig dis, lou gehrig disease, lou gehrig's disease, lou gehrigs dis, lou gehrigs disease, lou-gehrigs disease, motor neuron dis amyotrophic lateral sclerosis, motor neuron disease, amyotrophic lateral sclerosis, motor neuron disease, bulbar, sclerosis, amyotrophic lateral

amyotrophic lateral sclerosis type 10 als10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions

als10, amyotrophic lateral sclerosis 10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia, tardbp-related frontotemporal lobar degeneration with tdp43 inclusions

Androgen insensitivity syndrome ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

ais, androgen resistance syndrome, goldberg-maxwell syndrome, morris syndrome, testicular feminization syndrome

anemia

Ankylosing Spondylitis ankylosing spondylitis

ankylosing spondylitis

ankylosing spondylitis ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondylitis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, bekhterev syndrome, bekhterev's disease, marie struempell dis, marie struempell disease, marie-struempell disease, marie-strumpell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

ankylosing spondylarthritides, ankylosing spondylarthritis, ankylosing spondylitis, ankylosing spondyloarthritides, ankylosing spondyloarthritis, bechterew dis, bechterew disease, bechterew's disease, bechterews dis, bechterews disease, bekhterev syndrome, bekhterev's disease, marie struempell dis, marie struempell disease, marie-struempell disease, marie-strumpell disease, rheumatoid spondylitis, spondylarthritides, ankylosing, spondylarthritis ankylopoietica, spondylarthritis, ankylosing, spondylitis, ankylosing, spondylitis, rheumatoid, spondyloarthritides, ankylosing, spondyloarthritis, ankylosing

anti-social behavior

Aplastic anemia

Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia, arvc, arvd

arrhythmogenic right ventricular dysplasia, arvc, arvd

arrhythmogenic right ventricular dysplasia 5 arrhythmogenic right ventricular cardiomyopathy 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5

arrhythmogenic right ventricular cardiomyopathy 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5

arrhythmogenic right ventricular dysplasia 9 arrhythmogenic right ventricular cardiomyopathy 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9

arrhythmogenic right ventricular cardiomyopathy 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9

atopic eczema atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic neurodermatitides, atopic neurodermatitis, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, atopic, eczema, infantile, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions, thyroid adenoma

atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic neurodermatitides, atopic neurodermatitis, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, atopic, eczema, infantile, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions, thyroid adenoma

atrial fibrillation af - atrial fibrillation, atrial fibrillation (disorder), atrial fibrillations, auricular fibrillation, auricular fibrillations, fibrillation, atrial, fibrillation, auricular, fibrillations, atrial, fibrillations, auricular

af - atrial fibrillation, atrial fibrillation (disorder), atrial fibrillations, auricular fibrillation, auricular fibrillations, fibrillation, atrial, fibrillation, auricular, fibrillations, atrial, fibrillations, auricular

atrioventricular block av block

av block

attention deficit hyperactivity disorder addh, adhd, attention deficit dis, attention deficit dis with hyperactivity, attention deficit disorder, attention deficit disorder with hyperactivity, attention deficit disorders, attention deficit disorders with hyperactivity, attention deficit hyperactivity dis, attention deficit hyperactivity disorders, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

addh, adhd, attention deficit dis, attention deficit dis with hyperactivity, attention deficit disorder, attention deficit disorder with hyperactivity, attention deficit disorders, attention deficit disorders with hyperactivity, attention deficit hyperactivity dis, attention deficit hyperactivity disorders, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

Autism autism, autistic disorder

autism, autistic disorder

Autism autism

autism

autism spectrum disorder autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

autism spectrum disease, autism spectrum disorder, autism spectrum disorders, autistic spectrum disorder, child development dis pervasive, child development disorders, pervasive, development disorder, pervasive, development disorders, pervasive, disorder, autism spectrum, disorder, pervasive development, disorders, autism spectrum, disorders, pervasive development, pervasive child development dis, pervasive child development disorders, pervasive development disorder, pervasive development disorders, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

Autism Spectrum Disorder autism spectrum disorder, pervasive developmental disorders

autism spectrum disorder, pervasive developmental disorders

autism spectrum disorder

autosomal dominant cerebellar ataxia spinocerebellar ataxia

spinocerebellar ataxia

autosomal dominant Parkinson disease 1

Autosomal dominant polycystic kidney disease adpkd, adpkd - autosomal dominant polycystic kidney disease, adult type autosomal dominant polycystic kidney disease, autosomal dominant adult polycystic kidney disease, autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

adpkd, adpkd - autosomal dominant polycystic kidney disease, adult type autosomal dominant polycystic kidney disease, autosomal dominant adult polycystic kidney disease, autosomal dominant polycystic kidney disease, polycystic kidney disease, adult type, polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

autosomal recessive osteopetrosis 4 infantile malignant osteopetrosis 2, optb4

infantile malignant osteopetrosis 2, optb4

Bardet-Biedl syndrome bbs

bbs

Batten disease juvenile neuronal ceroid lipofuscinosis

juvenile neuronal ceroid lipofuscinosis

Becker muscular dystrophy benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

Becker muscular dystrophy becker dystrophinopathy, bmd

becker dystrophinopathy, bmd

Best vitelliform macular dystrophy best disease, best macular dystrophy, bmd, bvmd, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, polymorphic vitelline macular degeneration, vitelliform macular dystrophy type 2

best disease, best macular dystrophy, bmd, bvmd, early-onset vitelliform macular dystrophy, juvenile-onset vitelliform macular dystrophy, polymorphic vitelline macular degeneration, vitelliform macular dystrophy type 2

bestrophinopathy autosomal recessive bestrophinopathy

autosomal recessive bestrophinopathy

beta thalassemia

Bilateral striopallidodentate calcinosis bspdc, cerebrovascular ferrocalcinosis, idiopathic basal ganglia calcification, pfbc, primary familial brain calcification

bspdc, cerebrovascular ferrocalcinosis, idiopathic basal ganglia calcification, pfbc, primary familial brain calcification

bipolar disorder affective bipolar psychosis, affective psychosis, bipolar, bipolar affective disorder, bipolar affective disorder , current episode mixed (disorder), bipolar affective disorder, current episode depression (disorder), bipolar affective disorder, manic, unspecified degree, bipolar affective disorder, mixed, unspecified degree, bipolar affective psychosis, bipolar depression, bipolar dis, bipolar disease, bipolar disorder, bipolar disorder (disorder), bipolar disorder manic phase, bipolar disorder nos, bipolar disorder, nos, bipolar disorder, unspecified, bipolar disorders, depression, bipolar, depressive-manic psych., disorder, bipolar, disorder, manic, major affective disorder, mania, manias, manic bipolar affective disorder, manic bipolar i disorder, manic bipolar i disorder (disorder), manic depressive disorder, manic depressive illness, manic depressive psychosis, manic dis, manic disorder, manic disorders, manic state, manic states, manic-depression, manic-depressive illness, manic-depressive psychoses, manic-depressive psychosis, manic-depressive syndrome nos, mdi - manic-depressive illness, mixed bipolar affective disorder (disorder), mixed bipolar affective disorder, nos (disorder), mixed bipolar disorder, mixed bipolar i disorder (disorder), psychoses, bipolar affective, psychoses, manic depressive, psychoses, manic-depressive, psychosis, bipolar affective, psychosis, manic depressive, psychosis, manic-depressive, state, manic, states, manic, unspecified bipolar affective disorder, unspecified bipolar affective disorder (disorder), unspecified bipolar affective disorder, nos, unspecified bipolar affective disorder, nos (disorder), unspecified bipolar affective disorder, unspecified, unspecified bipolar affective disorder, unspecified (disorder), [x]bipolar affective disorder, unspecified, [x]bipolar affective disorder, unspecified (disorder)

affective bipolar psychosis, affective psychosis, bipolar, bipolar affective disorder, bipolar affective disorder , current episode mixed (disorder), bipolar affective disorder, current episode depression (disorder), bipolar affective disorder, manic, unspecified degree, bipolar affective disorder, mixed, unspecified degree, bipolar affective psychosis, bipolar depression, bipolar dis, bipolar disease, bipolar disorder, bipolar disorder (disorder), bipolar disorder manic phase, bipolar disorder nos, bipolar disorder, nos, bipolar disorder, unspecified, bipolar disorders, depression, bipolar, depressive-manic psych., disorder, bipolar, disorder, manic, major affective disorder, mania, manias, manic bipolar affective disorder, manic bipolar i disorder, manic bipolar i disorder (disorder), manic depressive disorder, manic depressive illness, manic depressive psychosis, manic dis, manic disorder, manic disorders, manic state, manic states, manic-depression, manic-depressive illness, manic-depressive psychoses, manic-depressive psychosis, manic-depressive syndrome nos, mdi - manic-depressive illness, mixed bipolar affective disorder (disorder), mixed bipolar affective disorder, nos (disorder), mixed bipolar disorder, mixed bipolar i disorder (disorder), psychoses, bipolar affective, psychoses, manic depressive, psychoses, manic-depressive, psychosis, bipolar affective, psychosis, manic depressive, psychosis, manic-depressive, state, manic, states, manic, unspecified bipolar affective disorder, unspecified bipolar affective disorder (disorder), unspecified bipolar affective disorder, nos, unspecified bipolar affective disorder, nos (disorder), unspecified bipolar affective disorder, unspecified, unspecified bipolar affective disorder, unspecified (disorder), [x]bipolar affective disorder, unspecified, [x]bipolar affective disorder, unspecified (disorder)

Brugada syndrome bangungut, dream disease, idiopathic ventricular fibrillation, brugada type, pokkuri death syndrome, sudden unexplained nocturnal death syndrome, sunds

bangungut, dream disease, idiopathic ventricular fibrillation, brugada type, pokkuri death syndrome, sudden unexplained nocturnal death syndrome, sunds

Brugada Syndrome brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

brugada syndrome, right bundle branch block, st segment elevation, and sudden death syndrome

CADASIL cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, hereditary multi-infarct dementia

cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, hereditary multi-infarct dementia

Cardiomyopathy cardiomyopathy

cardiomyopathy

Cardiotoxicity cardiac toxicity, cardiotoxicity, toxicity, cardiac

cardiac toxicity, cardiotoxicity, toxicity, cardiac

Catecholaminergic polymorphic ventricular tachycardia bidirectional tachycardia induced by catecholamine, cpvt, double tachycardia induced by catecholamines, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats

bidirectional tachycardia induced by catecholamine, cpvt, double tachycardia induced by catecholamines, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats

Central Hypothyroidism central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

central hypothyroidism, hypothalamic-pituitary hypothyroidism, secondary hypothyroidism, thyroid stimulating hormone deficiency, thyrotropin deficiency, tsh deficiency

Cerebellar Ataxia

Charcot-Marie-Tooth disease type 1 hereditary motor and sensory neuropathy type 1

hereditary motor and sensory neuropathy type 1

CHARGE syndrome charge association, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, hall-hittner syndrome

charge association, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, hall-hittner syndrome

CHARGE Syndrome charge syndrome, coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association

charge syndrome, coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association

cholestasis bile occlusion, obstruction of bile duct

bile occlusion, obstruction of bile duct

Chorioretinal atrophy chorioretinal thinning

chorioretinal thinning

chromosomal disease

chromosome 16p11.2 deletion syndrome, 220kb distal 16p11.2 microdeletion syndrome

distal 16p11.2 microdeletion syndrome

Clubfoot club foot, clubbed foot, clubfoot, talipes, talipes equinovarus

club foot, clubbed foot, clubfoot, talipes, talipes equinovarus

Coffin-Siris Syndrome coffin-siris syndrome

coffin-siris syndrome

Congenital contractural arachnodactyly beals syndrome, beals-hecht syndrome, cca syndrome, distal arthrogryposis type 9

beals syndrome, beals-hecht syndrome, cca syndrome, distal arthrogryposis type 9

Congenital Hyperinsulinism

Congenital muscular dystrophy due to LMNA mutation l-cmd, lmna-related congenital muscular dystrophy

l-cmd, lmna-related congenital muscular dystrophy

copper ion binding copper binding

copper binding

corticobasal degeneration

creatine transporter deficiency cerebral creatine deficiency syndrome 1, slc6a8 deficiency

cerebral creatine deficiency syndrome 1, slc6a8 deficiency

Crigler-Najjar syndrome bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome, crigler-najjar syndrome, type i (disorder)

bilirubin udp glucuronyl transferase deficiency, crigler najjar syndrome, crigler-najjar syndrome, type i (disorder)

Cystic Fibrosis cystic fibrosis

cystic fibrosis

Cystic fibrosis cf, mucoviscidosis

cf, mucoviscidosis

Danon disease antopol disease, pseudoglycogenosis ii

antopol disease, pseudoglycogenosis ii

Deafness, Autosomal Recessive 1A deafness, autosomal recessive 1a, dfnb1a

deafness, autosomal recessive 1a, dfnb1a

Dentatorubral pallidoluysian atrophy dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

Desminopathy desmin-related myofibrillar myopathy

desmin-related myofibrillar myopathy

Developmental Delay delayed developmental milestones, developmental delay

delayed developmental milestones, developmental delay

diabetes mellitus diabetes, diabetes mellitus, diabetes mellitus (disease), diabetes mellitus (disorder), diabetes mellitus, nos, diabetes nos, dm, dm - diabetes mellitus

diabetes, diabetes mellitus, diabetes mellitus (disease), diabetes mellitus (disorder), diabetes mellitus, nos, diabetes nos, dm, dm - diabetes mellitus

Dilated Cardiomyopathy congestive cardiomyopathy, dilated cardiomyopathy

congestive cardiomyopathy, dilated cardiomyopathy

dilated cardiomyopathy

DMD

DMD

Donnai-Barrow syndrome dbs/foar syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, facio-oculo-acoustico-renal syndrome, foar syndrome, holmes-schepens syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness

dbs/foar syndrome, diaphragmatic hernia-exomphalos-hypertelorism syndrome, diaphragmatic hernia-hypertelorism-myopia-deafness syndrome, facio-oculo-acoustico-renal syndrome, foar syndrome, holmes-schepens syndrome, syndrome of ocular and facial anomalies, telecanthus and deafness

Down syndrome complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, partial trisomy 21, down's syndrome, down's syndrome - trisomy 21, down's syndrome nos, down's syndrome nos (disorder), downs syndrome, g trisomy, mongolism, partial trisomy 21 down syndrome, syndrome, down, syndrome, down's, t21 - trisomy 21, trisomy 21, trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, trisomy 21 nos, trisomy 21 syndrome, trisomy 21, meiotic nondisjunction, trisomy 21, mitotic nondisjunction

complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, partial trisomy 21, down's syndrome, down's syndrome - trisomy 21, down's syndrome nos, down's syndrome nos (disorder), downs syndrome, g trisomy, mongolism, partial trisomy 21 down syndrome, syndrome, down, syndrome, down's, t21 - trisomy 21, trisomy 21, trisomy 21 (down syndrome)downs syndrometrisomy 21 syndrome, trisomy 21 nos, trisomy 21 syndrome, trisomy 21, meiotic nondisjunction, trisomy 21, mitotic nondisjunction

Dravet syndrome ds, severe myoclonic epilepsy of infancy, severe myoclonus epilepsy of infancy, smei

ds, severe myoclonic epilepsy of infancy, severe myoclonus epilepsy of infancy, smei

drug-induced liver injury drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

Duchenne muscular dystrophy muscular dystrophy, duchenne

muscular dystrophy, duchenne

Duchenne muscular dystrophy dmd, severe dystrophinopathy, duchenne type

dmd, severe dystrophinopathy, duchenne type

Duchenne Muscular Dystrophy duchenne, duchenne muscular dystrophy

duchenne, duchenne muscular dystrophy

Emery-Dreifuss Muscular Dystrophy emery-dreifuss muscular dystrophy

emery-dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy edmd

edmd

endocrine gland cancer endocrine neoplasm, endocrine tumor, malignant endocrine tumor, malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland (disorder), neoplasm of endocrine system (disorder)

endocrine neoplasm, endocrine tumor, malignant endocrine tumor, malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland (disorder), neoplasm of endocrine system (disorder)

epidermolysis bullosa acantholysis bullosa

acantholysis bullosa

epidermolysis bullosa simplex epidermolysis bullosa simplex

epidermolysis bullosa simplex

epilepsy ef - epileptic fit, ep - epilepsy, epilectic attack, nos, epilep nec w/o intr epil, epilep nos w/o intr epil, epilepsy, epilepsy (disorder), epilepsy and recurrent seizures, epilepsy nec w intr epil, epilepsy nos, epilepsy nos (disorder), epilepsy nos w intr epil, epilepsy syndrome, epilepsy, nos, epilepsy, unspecified, epilepsy, unspecified, with intractable epilepsy, epilepsy, unspecified, without mention of intractable epilepsy, epileptic, epileptic attack, epileptic attack, nos, epileptic convulsions, epileptic convulsions, nos, epileptic disorder, epileptic disorder, nos, epileptic fit, epileptic fits, epileptic fits, nos, epileptic seizure, epileptic seizure (finding), epileptic seizures, epileptic seizures, nos, epileptic syndrome, generalised convulsion, generalised fit, generalised seizure, generalized convulsion, generalized fit, generalized seizure, generalized seizure (finding), other forms of epilepsy, other forms of epilepsy (disorder), other forms of epilepsy and recurrent seizures, other forms of epilepsy nos, other forms of epilepsy nos (disorder), other forms of epilepsy, with intractable epilepsy, other forms of epilepsy, without mention of intractable epilepsy, seizure disorder, seizure disorder (disorder), [x]other epilepsy, [x]other epilepsy (disorder)

ef - epileptic fit, ep - epilepsy, epilectic attack, nos, epilep nec w/o intr epil, epilep nos w/o intr epil, epilepsy, epilepsy (disorder), epilepsy and recurrent seizures, epilepsy nec w intr epil, epilepsy nos, epilepsy nos (disorder), epilepsy nos w intr epil, epilepsy syndrome, epilepsy, nos, epilepsy, unspecified, epilepsy, unspecified, with intractable epilepsy, epilepsy, unspecified, without mention of intractable epilepsy, epileptic, epileptic attack, epileptic attack, nos, epileptic convulsions, epileptic convulsions, nos, epileptic disorder, epileptic disorder, nos, epileptic fit, epileptic fits, epileptic fits, nos, epileptic seizure, epileptic seizure (finding), epileptic seizures, epileptic seizures, nos, epileptic syndrome, generalised convulsion, generalised fit, generalised seizure, generalized convulsion, generalized fit, generalized seizure, generalized seizure (finding), other forms of epilepsy, other forms of epilepsy (disorder), other forms of epilepsy and recurrent seizures, other forms of epilepsy nos, other forms of epilepsy nos (disorder), other forms of epilepsy, with intractable epilepsy, other forms of epilepsy, without mention of intractable epilepsy, seizure disorder, seizure disorder (disorder), [x]other epilepsy, [x]other epilepsy (disorder)

Epileptic encephalopathy convulsive encephalopathy

convulsive encephalopathy

epileptic encephalopathy, early infantile, 26

Fabry Disease alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

Fabry disease alpha galactosidase deficiency, alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, deficiency of melibiase, fabry's disease, fabry's disease (disorder)

alpha galactosidase deficiency, alpha-galactosidase a deficiency, angiokeratoma corporis diffusum, deficiency of melibiase, fabry's disease, fabry's disease (disorder)

Facioscapulohumeral dystrophy facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy, fsh dystrophy, fshd, landouzy-dejerine myopathy

facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy, fsh dystrophy, fshd, landouzy-dejerine myopathy

facioscapulohumeral muscular dystrophy landouzy dejerine muscular dystrophy, landouzy-dejerine muscular dystrophy, muscular dystrophy, landouzy-dejerine

landouzy dejerine muscular dystrophy, landouzy-dejerine muscular dystrophy, muscular dystrophy, landouzy-dejerine

facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 1b, facioscapulohumeral muscular dystrophy type 2, fshd2

facioscapulohumeral muscular dystrophy 1b, facioscapulohumeral muscular dystrophy type 2, fshd2

factor VIII deficiency congenital factor viii disorder, hemophilia a, subhemophilia

congenital factor viii disorder, hemophilia a, subhemophilia

familial adenomatous polyposis adenomatous polyposis of the colon

adenomatous polyposis of the colon

Familial Dysautonomia familial dysautonomia, hereditary sensory and autonomic neuropathy type iii, hsan 3, hsan iii, neuropathy, hereditary sensory and autonomic, type iii, riley-day syndrome

familial dysautonomia, hereditary sensory and autonomic neuropathy type iii, hsan 3, hsan iii, neuropathy, hereditary sensory and autonomic, type iii, riley-day syndrome

familial hypercholesterolemia familial hyperbetalipoproteinaemia, familial hypercholesteremia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, type ii hyperlipidemia

familial hyperbetalipoproteinaemia, familial hypercholesteremia, fredrickson type iia hyperlipoproteinemia, fredrickson type iia lipidaemia, hyperbetalipoproteinemia, type ii hyperlipidemia

Familial long QT syndrome congenital long qt syndrome

congenital long qt syndrome

familial partial lipodystrophy type 2 familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy dunnigan type, fpld2, reverse partial lipodystrophy

familial lipodystrophy of limbs and lower trunk, familial partial lipodystrophy dunnigan type, fpld2, reverse partial lipodystrophy

Familial platelet disorder with associated myeloid malignancy familial platelet disorder with predisposition to acute myelogenous leukemia, familial platelet disorder with predisposition to myeloid malignancy, familial platelet disorder with propensity to acute myeloid leukemia, familial thrombocytopenia with propensity to acute myelogenous leukemia, fpd/aml, fpdmm, fps/aml

familial platelet disorder with predisposition to acute myelogenous leukemia, familial platelet disorder with predisposition to myeloid malignancy, familial platelet disorder with propensity to acute myeloid leukemia, familial thrombocytopenia with propensity to acute myelogenous leukemia, fpd/aml, fpdmm, fps/aml

Familial progressive cardiac conduction defect familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

familial lenègre disease, familial lev disease, familial lev-lenègre disease, familial pccd, familial progressive heart block, hereditary bundle branch defect

Fanconi anemia fanconi pancytopenia

fanconi pancytopenia

FG syndrome keller syndrome, opitz-kaveggia syndrome

keller syndrome, opitz-kaveggia syndrome

fibrodysplasia ossificans progressiva myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, stone man syndrome

focal segmental glomerulosclerosis fgs, fgs (focal glomerular sclerosis), focal glomerular sclerosis, focal glomerulosclerosis, focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis, glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

fgs, fgs (focal glomerular sclerosis), focal glomerular sclerosis, focal glomerulosclerosis, focal segmental glomerulosclerosis, fsgs, fsgs - focal segmental glomerulosclerosis, glomerulonephritis, focal sclerosing, glomerulosclerosis, glomerulosclerosis, focal, glomerulosclerosis, focal segmental

Fragile X Syndrome fragile x syndrome

fragile x syndrome

Fragile X syndrome frax syndrome, fraxa syndrome, fxs, martin-bell syndrome

frax syndrome, fraxa syndrome, fxs, martin-bell syndrome

Frontotemporal dementia ftd

ftd

Gabriele-de Vries syndrome yy1 haploinsufficiency syndrome

yy1 haploinsufficiency syndrome

Gaucher disease acid beta-glucosidase deficiency, glucocerebrosidase deficiency

acid beta-glucosidase deficiency, glucocerebrosidase deficiency

Gaucher disease type 3 cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

cerebral juvenile and adult form of gaucher disease, chronic neuronopathic gaucher disease, gaucher disease, subacute neuronopathic type

Genetic macular dystrophy

glycogen storage disease glycogenosis

glycogenosis

Glycogen Storage Disease glycogen storage disease

glycogen storage disease

Glycogen storage disease due to GLUT2 deficiency bickel-fanconi glycogenosis, fanconi-bickel disease, glycogen storage disease type 11, glycogen storage disease type xi, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency, gsd type 11, gsd type xi

bickel-fanconi glycogenosis, fanconi-bickel disease, glycogen storage disease type 11, glycogen storage disease type xi, glycogenosis due to glut2 deficiency, gsd due to glut2 deficiency, gsd type 11, gsd type xi

hematological system disease blood disorder, hematologic disease, hematologic diseases, hematopoietic system disease

blood disorder, hematologic disease, hematologic diseases, hematopoietic system disease

Hemophilia A factor viii deficiency, hemophilia a, hereditary factor viii deficiency, hereditary factor viii deficiency disease

factor viii deficiency, hemophilia a, hereditary factor viii deficiency, hereditary factor viii deficiency disease

Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

hereditary hemorrhagic telangiectasia, osler-weber-rendu disease, telangiectasia, hereditary hemorrahagic, of rendu, osler

hereditary multiple exostoses hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple congenital exostosis, multiple exostosis syndromes, multiple ostechondromas, osteochondromatosis syndrome (disorder) [ambiguous]

hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple congenital exostosis, multiple exostosis syndromes, multiple ostechondromas, osteochondromatosis syndrome (disorder) [ambiguous]

Hereditary Spastic Paraplegia hereditary spastic paraplegia

hereditary spastic paraplegia

Hereditary spastic paraplegia familial spastic paraplegia, hereditary spastic paraparesis, hsp, spg, strümpell-lorrain disease

familial spastic paraplegia, hereditary spastic paraparesis, hsp, spg, strümpell-lorrain disease

Huntington disease huntington chorea

huntington chorea

Huntington's Disease hd, huntington disease, huntington's chorea, huntington's disease

hd, huntington disease, huntington's chorea, huntington's disease

Hurler-Scheie syndrome mps1h/s, mpsih/s, mucopolysaccharidosis type 1h/s, mucopolysaccharidosis type ih/s

mps1h/s, mpsih/s, mucopolysaccharidosis type 1h/s, mucopolysaccharidosis type ih/s

hypertrophic cardiomyopathy asymmetric septal hypertrophies, asymmetric septal hypertrophy, cardiomyopathies, hypertrophic, cardiomyopathies, hypertrophic obstructive, cardiomyopathy, hypertrophic, cardiomyopathy, hypertrophic obstructive, hcm, hcm - hypertrophic cardiomyopathy, hocm - hypertrophic obstructive cardiomyopathy, hyper. obst. cardiomyopathy, hypertr obstr cardiomyop, hypertrophic cardiomyopathies, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy (disorder), hypertrophic myocardiopathy, hypertrophic obstructive cardiomyopathies, hypertrophic obstructive cardiomyopathy, hypertrophic obstructive cardiomyopathy (disorder), hypertrophic subaortic stenosis, hypertrophies, asymmetric septal, hypertrophy, asymmetric septal, idiopathic hypertrophic subaortic stenosis, idiopathic hypertrophic subvalv stenosis, idiopathic hypertrophic subvalvular stenosis, ihss, ihsss, obstructive cardiomyopathies, hypertrophic, obstructive cardiomyopathy, obstructive cardiomyopathy, hypertrophic, obstructive hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy (disorder) [ambiguous], septal hypertrophies, asymmetric, septal hypertrophy, asymmetric, subvalv stenosis, subvalv stenosis idiopathic hypertrophic, subvalvular stenosis, idiopathic hypertrophic

asymmetric septal hypertrophies, asymmetric septal hypertrophy, cardiomyopathies, hypertrophic, cardiomyopathies, hypertrophic obstructive, cardiomyopathy, hypertrophic, cardiomyopathy, hypertrophic obstructive, hcm, hcm - hypertrophic cardiomyopathy, hocm - hypertrophic obstructive cardiomyopathy, hyper. obst. cardiomyopathy, hypertr obstr cardiomyop, hypertrophic cardiomyopathies, hypertrophic cardiomyopathy, hypertrophic cardiomyopathy (disorder), hypertrophic myocardiopathy, hypertrophic obstructive cardiomyopathies, hypertrophic obstructive cardiomyopathy, hypertrophic obstructive cardiomyopathy (disorder), hypertrophic subaortic stenosis, hypertrophies, asymmetric septal, hypertrophy, asymmetric septal, idiopathic hypertrophic subaortic stenosis, idiopathic hypertrophic subvalv stenosis, idiopathic hypertrophic subvalvular stenosis, ihss, ihsss, obstructive cardiomyopathies, hypertrophic, obstructive cardiomyopathy, obstructive cardiomyopathy, hypertrophic, obstructive hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy, primary hypertrophic cardiomyopathy (disorder) [ambiguous], septal hypertrophies, asymmetric, septal hypertrophy, asymmetric, subvalv stenosis, subvalv stenosis idiopathic hypertrophic, subvalvular stenosis, idiopathic hypertrophic

Hypertrophic Cardiomyopathy hypertrophic cardiomyopathy

hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy

IGA glomerulonephritis berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, immunoglobulin a nephropathy, nephropathy, iga, primary iga nephropathy, segmental glomerulonephritis

immune system disease autoimmune disease nec, autoimmune disease, not elsewhere classified, autoimmune diseases, defic cell immunity nos, deficiency of cell-mediated immunity, disorder of the immune mechanism nos, disorder of the immune mechanism nos (disorder), disorders involving the immune mechanism, immundef t-cell def nos, immune mechanism dis nec, immune mechanism dis nos, immune system and related disorders, immunodeficiency and immunosuppression disorders, immunodeficiency with predominant t-cell defect, unspecified, other deficiency of cell-mediated immunity, other specified disorders involving the immune mechanism, other specified disorders of the immune mechanism, other specified disorders of the immune mechanism (disorder), unspecified disorder of immune mechanism, [x]disorder involving the immune mechanism, unspecified, [x]disorder involving the immune mechanism, unspecified (disorder)

autoimmune disease nec, autoimmune disease, not elsewhere classified, autoimmune diseases, defic cell immunity nos, deficiency of cell-mediated immunity, disorder of the immune mechanism nos, disorder of the immune mechanism nos (disorder), disorders involving the immune mechanism, immundef t-cell def nos, immune mechanism dis nec, immune mechanism dis nos, immune system and related disorders, immunodeficiency and immunosuppression disorders, immunodeficiency with predominant t-cell defect, unspecified, other deficiency of cell-mediated immunity, other specified disorders involving the immune mechanism, other specified disorders of the immune mechanism, other specified disorders of the immune mechanism (disorder), unspecified disorder of immune mechanism, [x]disorder involving the immune mechanism, unspecified, [x]disorder involving the immune mechanism, unspecified (disorder)

inflammatory disease anatomical structure inflammation, inflammation of anatomical structure, inflammatory disease, inflammatory disorder

anatomical structure inflammation, inflammation of anatomical structure, inflammatory disease, inflammatory disorder

intellectual developmental disorder 61

Intellectual Disability intellectual disabilities, intellectual disability

intellectual disabilities, intellectual disability

Intellectual disability intellectual disability, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation

intellectual disability, mental deficiency, mental retardation, mental retardation, nonspecific, mental-retardation, nonprogressive intellectual disability, nonprogressive mental retardation

Jervell and Lange-Nielsen syndrome long qt interval-deafness syndrome

long qt interval-deafness syndrome

Joubert syndrome cerebelloparenchymal disorder iv, classic joubert syndrome, cpd iv, joubert syndrome type a, joubert-boltshauser syndrome, pure joubert syndrome

cerebelloparenchymal disorder iv, classic joubert syndrome, cpd iv, joubert syndrome type a, joubert-boltshauser syndrome, pure joubert syndrome

Juvenile amyotrophic lateral sclerosis jals, juvenile charcot disease, juvenile lou gehrig disease

jals, juvenile charcot disease, juvenile lou gehrig disease

Juvenile Huntington disease jhd, juvenile huntington chorea

jhd, juvenile huntington chorea

Juvenile Myelomonocytic Leukemia chronic myelomonocytic leukemia, jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile myelomonocytic leukemia

chronic myelomonocytic leukemia, jcml, jmml, juvenile chronic myelogenous leukemia, juvenile chronic myeloid leukemia, juvenile myelomonocytic leukemia

Kabuki Syndrome kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

kabuki make-up syndrome, kabuki syndrome, kms, niikawa-kuroki syndrome

Kabuki syndrome kabuki make-up syndrome, niikawa-kuroki syndrome

kabuki make-up syndrome, niikawa-kuroki syndrome

Keratoconjunctivitis sicca dry eyes, keratitis sicca, xerophthalmia

dry eyes, keratitis sicca, xerophthalmia

Kleefstra Syndrome chromosome 9q34.3 deletion syndrome, kleefstra syndrome

chromosome 9q34.3 deletion syndrome, kleefstra syndrome

Klinefelter syndrome 47, xxy, hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

47, xxy, hypogonadotropic hypogonadism, klinefelter's syndrome, xxy syndrome, xxy trisomy

Klinefelter's syndrome 47,xxy syndrome, hypogonadotropic hypogonadism, klinefelter syndrome, klinefelter's syndrome, klinefelter's syndrome, xxy, xxy syndrome, xxy syndrome (klinefelter syndrome), xxy trisomy

47,xxy syndrome, hypogonadotropic hypogonadism, klinefelter syndrome, klinefelter's syndrome, klinefelter's syndrome, xxy, xxy syndrome, xxy syndrome (klinefelter syndrome), xxy trisomy

Leber congenital amaurosis lca, leber congenital amaurosis type 13, leber congenital amaurosis type 14, leber's amaurosis, leber's congenital amaurosis, leber's disease

lca, leber congenital amaurosis type 13, leber congenital amaurosis type 14, leber's amaurosis, leber's congenital amaurosis, leber's disease

Leber Congenital Amaurosis leber congenital amaurosis

leber congenital amaurosis

Left ventricular noncompaction cardiomyopathy left ventricular non-compaction cardiomyopathy

left ventricular non-compaction cardiomyopathy

Leukemia blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

blood (leukemia), leukemia, leukemia nos, leukemia, disease, leukemia, malignant, leukemia, nos, leukemias, leukemias, general

limb-girdle muscular dystrophy erb's muscular dystrophy, leyden-mbius muscular dystrophy, limb girdle muscular dystrophy

erb's muscular dystrophy, leyden-mbius muscular dystrophy, limb girdle muscular dystrophy

Loeys-Dietz syndrome aortic aneurysm syndrome due to tgf-beta receptors anomalies

aortic aneurysm syndrome due to tgf-beta receptors anomalies

long QT syndrome long q-t syndrome, lqt, romano-ward syndrome, romano-ward syndrome (disorder)

long q-t syndrome, lqt, romano-ward syndrome, romano-ward syndrome (disorder)

Long QT Syndrome long qt syndrome, ventricular arrhythmia associated with long qt syndrome

long qt syndrome, ventricular arrhythmia associated with long qt syndrome

long QT syndrome 1 lqt1, ventricular fibrillation with prolonged qt interval

lqt1, ventricular fibrillation with prolonged qt interval

Long QT Syndrome 1 long qt syndrome 1, lqt1, romano-ward syndrome

long qt syndrome 1, lqt1, romano-ward syndrome

Long QT Syndrome 2 long qt syndrome 2, lqt2

long qt syndrome 2, lqt2

Long QT Syndrome 3 long qt syndrome 3, lqt3

long qt syndrome 3, lqt3

Long QT Syndrome 8 long qt syndrome 8, lqt8, timothy syndrome

long qt syndrome 8, lqt8, timothy syndrome

Marfan syndrome mfs

mfs

Mental Retardation mental retardation

mental retardation

Mental Retardation, Autosomal Dominant 39 mental retardation, autosomal dominant 39, mrd39

mental retardation, autosomal dominant 39, mrd39

migraine disorder abdominal migraine, abdominal migraines, acute confusional migraine, acute confusional migraines, cervical migraine syndrome, cervical migraine syndromes, disorder, migraine, disorders, migraine, headache, migraine, headache, sick, headaches, migraine, headaches, sick, hemicrania migraine, hemicrania migraines, migraine, migraine disorder, migraine disorders, migraine headache, migraine headaches, migraine syndrome, cervical, migraine syndromes, cervical, migraine variant, migraine variants, migraine with or without aura, migraine, abdominal, migraine, acute confusional, migraine, hemicrania, migraines, migraines, abdominal, migraines, acute confusional, migraines, hemicrania, sick headache, sick headaches, status migrainosus, variant, migraine, variants, migraine

abdominal migraine, abdominal migraines, acute confusional migraine, acute confusional migraines, cervical migraine syndrome, cervical migraine syndromes, disorder, migraine, disorders, migraine, headache, migraine, headache, sick, headaches, migraine, headaches, sick, hemicrania migraine, hemicrania migraines, migraine, migraine disorder, migraine disorders, migraine headache, migraine headaches, migraine syndrome, cervical, migraine syndromes, cervical, migraine variant, migraine variants, migraine with or without aura, migraine, abdominal, migraine, acute confusional, migraine, hemicrania, migraines, migraines, abdominal, migraines, acute confusional, migraines, hemicrania, sick headache, sick headaches, status migrainosus, variant, migraine, variants, migraine

Mild Cognitive Impairment

mitochondrial DNA depletion syndrome mtdna depletion syndrome

mtdna depletion syndrome

MODY maturity-onset diabetes of the young

maturity-onset diabetes of the young

monogenic diabetes monogenic diabetes mellitus

monogenic diabetes mellitus

monogenic disease

Monosomy 22q13 22q13 deletion, phelan-mcdermid syndrome

22q13 deletion, phelan-mcdermid syndrome

motor neuron disease anterior horn cell dis, anterior horn cell disease, disease of motor neuron, disease or disorder of motor neuron, disorder of motor neuron, familial motor neuron dis, familial motor neuron disease, lateral scleroses, lateral sclerosis, lower motor neuron dis, lower motor neuron disease, motor neuron dis, motor neuron dis familial, motor neuron dis lower, motor neuron dis second, motor neuron dis upper, motor neuron disease, motor neuron disease or disorder, motor neuron disease, familial, motor neuron disease, lower, motor neuron disease, secondary, motor neuron disease, upper, motor neuron diseases, motor system dis, motor system disease, motor system diseases, neuron disease, motor, neuron diseases, motor, scleroses, lateral, scleroses, primary lateral, sclerosis, lateral, second motor neuron dis, secondary motor neuron disease, upper motor neuron dis, upper motor neuron disease

anterior horn cell dis, anterior horn cell disease, disease of motor neuron, disease or disorder of motor neuron, disorder of motor neuron, familial motor neuron dis, familial motor neuron disease, lateral scleroses, lateral sclerosis, lower motor neuron dis, lower motor neuron disease, motor neuron dis, motor neuron dis familial, motor neuron dis lower, motor neuron dis second, motor neuron dis upper, motor neuron disease, motor neuron disease or disorder, motor neuron disease, familial, motor neuron disease, lower, motor neuron disease, secondary, motor neuron disease, upper, motor neuron diseases, motor system dis, motor system disease, motor system diseases, neuron disease, motor, neuron diseases, motor, scleroses, lateral, scleroses, primary lateral, sclerosis, lateral, second motor neuron dis, secondary motor neuron disease, upper motor neuron dis, upper motor neuron disease

Muenke Syndrome muenke syndrome

muenke syndrome

multiple myeloma cell myeloma, plasma, cell myelomas, plasma, disease, kahler, kahler disease, kahler's disease, medullary plasmacytoma, mult mye w/o achv rmson, mult myelm w/o remission, multiple myeloma, multiple myeloma (clinical), multiple myeloma (disorder), multiple myeloma without mention of having achieved remission, multiple myeloma without mention of remission, multiple myeloma, morphology (morphologic abnormality), multiple myeloma, no icd-o subtype, multiple myeloma, no icd-o subtype (morphologic abnormality), multiple myeloma/plasma cell myeloma, multiple myelomas, myeloid neoplasm of plasma cell, myeloma, myeloma multiple, myeloma, multiple, myeloma, nos, myeloma, plasma cell, myeloma, plasma cell, malignant, myeloma, plasma-cell, myeloma-multiple, myeloma-multiples, myelomas, multiple, myelomas, plasma cell, myelomas, plasma-cell, myelomatoses, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma, plasma cell myelomas, plasma-cell myeloma, plasma-cell myelomas, plasmacytic myeloma, [m]plasma cell myeloma

cell myeloma, plasma, cell myelomas, plasma, disease, kahler, kahler disease, kahler's disease, medullary plasmacytoma, mult mye w/o achv rmson, mult myelm w/o remission, multiple myeloma, multiple myeloma (clinical), multiple myeloma (disorder), multiple myeloma without mention of having achieved remission, multiple myeloma without mention of remission, multiple myeloma, morphology (morphologic abnormality), multiple myeloma, no icd-o subtype, multiple myeloma, no icd-o subtype (morphologic abnormality), multiple myeloma/plasma cell myeloma, multiple myelomas, myeloid neoplasm of plasma cell, myeloma, myeloma multiple, myeloma, multiple, myeloma, nos, myeloma, plasma cell, myeloma, plasma cell, malignant, myeloma, plasma-cell, myeloma-multiple, myeloma-multiples, myelomas, multiple, myelomas, plasma cell, myelomas, plasma-cell, myelomatoses, myelomatosis, plasma cell myeloid neoplasm, plasma cell myeloma, plasma cell myelomas, plasma-cell myeloma, plasma-cell myelomas, plasmacytic myeloma, [m]plasma cell myeloma

Multiple Sclerosis multiple sclerosis

multiple sclerosis

multiple sclerosis disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

disseminated sclerosis, ms, ms (multiple sclerosis), multiple sclerosis acute fulminating, multiple sclerosis, acute fulminating, sclerosis, disseminated, sclerosis, multiple

MYH9-related disease myh9-rd, myh9-related disorder, myh9-related syndrome, myh9-related syndromic thrombocytopenia

myh9-rd, myh9-related disorder, myh9-related syndrome, myh9-related syndromic thrombocytopenia

myocardial infarction attack - heart, cardiac infarction, cardiac infarction, nos, heart attack, heart attack, nos, infarct, myocardial, infarction (mi), myocardial, infarction of heart, infarction of heart, nos, infarction, myocardial, infarctions, myocardial, infarcts, myocardial, mi, mi - myocardial infarction, mi, myocardial infarction, myocardial infarct, myocardial infarction (disorder), myocardial infarction nos, myocardial infarction, (mi), myocardial infarction, nos, myocardial infarctions, myocardial infarcts

attack - heart, cardiac infarction, cardiac infarction, nos, heart attack, heart attack, nos, infarct, myocardial, infarction (mi), myocardial, infarction of heart, infarction of heart, nos, infarction, myocardial, infarctions, myocardial, infarcts, myocardial, mi, mi - myocardial infarction, mi, myocardial infarction, myocardial infarct, myocardial infarction (disorder), myocardial infarction nos, myocardial infarction, (mi), myocardial infarction, nos, myocardial infarctions, myocardial infarcts

myopathy myopathy

myopathy

myotonic disease

myotonic dystrophy type 1 congenital myotonic dystrophy, dystrophia myotonica, myotonic dystrophy of steinert, steinert disease

congenital myotonic dystrophy, dystrophia myotonica, myotonic dystrophy of steinert, steinert disease

neuroblastoma neuroblastoma (schwannian stroma-poor)

neuroblastoma (schwannian stroma-poor)

neurofibromatosis acoustic neurofibromatosis, central neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 2, neurofibromatosis type 4, neurofibromatosis type iv , peripheral neurofibromatosis, recklinghausen's neurofibromatosis, type iv neurofibromatosis of riccardi, von reklinghausen disease

acoustic neurofibromatosis, central neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 2, neurofibromatosis type 4, neurofibromatosis type iv , peripheral neurofibromatosis, recklinghausen's neurofibromatosis, type iv neurofibromatosis of riccardi, von reklinghausen disease

Neurofibromatosis neurofibromatosis, neurofibromatosis syndrome

neurofibromatosis, neurofibromatosis syndrome

Neurofibromatosis type 1 nf1, von recklinghausen disease

nf1, von recklinghausen disease

neuropathy

Neuropathy, Hereditary Sensory and Autonomic, Type V hsan5, neuropathy, hereditary sensory and autonomic, type v

hsan5, neuropathy, hereditary sensory and autonomic, type v

Niemann-Pick disease type C

Nijmegen Breakage Syndrome nijmegen breakage syndrome

nijmegen breakage syndrome

normal health, normalcy, normalities, normality

health, normalcy, normalities, normality