Diseases associated to hPSCreg cell lines

47,xxx, 47,xxx syndrome, triple x syndrome, trisomy x

polr-related leukodystrophy

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

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

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

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

acute myeloblastic leukemia 3, acute myeloblastic leukemia type 3, acute myeloid leukemia m3, acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute promyelocytic leukemia, acute promyelocytic leukemia with pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml-rara, acute promyelocytic leukemia with t(15;17)(q22;q12); pml/rara, aml m3, aml with t(15;17)(q22;q12), aml with t(15;17)(q22;q12);(pml/raralpha) and variants, apl, apml, apml - acute promyelocytic leukemia, fab m3, promyelocytic leukemia

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

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

adrenoleukodystrophy, schilder disease

hereditary diffuse leukoencephalopathy with spheroids

age-related macular degeneration, amd, armd

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, mct8-specific thyroid hormone cell membrane transporter deficiency, monocarboxylate transporter 8 deficiency

alpha-1-proteinase inhibitor deficiency, alpha1-antitrypsin deficiency

alport syndrome, alport's syndrome, hereditary nephritis

alport deafness-nephropathy, alport hearing loss-nephropathy

ad3, alzheimer disease 3, alzheimer disease 3, early onset, alzheimer disease familial 3, alzheimer disease type 3, alzheimer's disease 3, alzheimer's disease type 3, early-onset autosomal dominant alzheimer disease caused by mutation in psen1, familial alzheimer disease, type 3, familial alzheimer's disease, type 3, psen1 early-onset autosomal dominant alzheimer disease

ad4, alzheimer disease 4, alzheimer disease type 4, alzheimer disease, familial4, alzheimer's disease 4, alzheimer's disease type 4, familial alzheimer disease, type 4, familial alzheimer's disease, type 4

alzheimer disease, alzheimers dementia

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

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

als, amyotrophic lateral sclerosis, lou gehrig disease

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, charcot disease, lou gehrig disease

als10, amyotrophic lateral sclerosis 10, with or without frontotemporal dementia

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

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

aneuploid, aneuploidy

aniridia

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

aplastic anaemia

arrhythmia, cardiac arrhythmia

arrhythmogenic right ventricular dysplasia, arvc, arvd

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

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

allergic, allergic dermatitis, allergic form of dermatitis, atopic dermatitides, atopic dermatitis, atopic dermatitis and related conditions, atopic dermatitis and related conditions (disorder), atopic eczema, atopic neurodermatitides, atopic neurodermatitis, besnier's prurigo, dermatitides, atopic, dermatitis, atopic, disseminated neurodermatitides, disseminated neurodermatitis, eczema, eczema, atopic, eczema, infantile, eczematous dermatitis, infantile eczema, neurodermatitides, atopic, neurodermatitides, disseminated, neurodermatitis, atopic, neurodermatitis, disseminated, other atopic dermatitis, other atopic dermatitis and related conditions

af, afib, atrial fibrillation

av block

add, 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 disorder, inattentive type, attention deficit hyperactivity disorder, inattentive/distractible type, attention deficit hyperactivity disorder, predominantly inattentive type, attention deficit hyperactivity disorders, brain dysfunction, minimal, deficit disorder, attention, deficit disorders, attention, disorder, attention deficit, disorders, attention deficit, dysfunction, minimal brain, hyperkinetic disorder, hyperkinetic syndrome, minimal brain dysfunction, syndromes, hyperkinetic

autism

autism, autistic disorder

autism spectrum disorder, pervasive developmental disorders

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

spinocerebellar ataxia

autosomal dominant optic atrophy

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 dominant torsion dystonia 1, dyt1

autosomal recessive osteopetrosis, malignant osteopetrosis

infantile malignant osteopetrosis 2, optb4

bardet-biedl syndrome, bbs, laurence-moon syndrome, laurence-moon-bardet-biedl syndrome, laurence-moon-biedl syndrome

bbs

benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

becker dystrophinopathy, becker muscular dystrophy, benign congenital myopathy, benign pseudohypertrophic muscular dystrophy, bmd

benign familial infantile convulsions, benign familial infantile seizures, bfie, bfis

autosomal recessive bestrophinopathy

bpan, nbia5, neurodegeneration with brain iron accumulation type 5, senda, static encephalopathy of childhood with neurodegeneration in adulthood

bfpp, bilateral frontoparietal polymicrogyria

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

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)

birt-hogg-dube syndrome

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

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

idiopathic ventricular fibrillation, brugada type

cardiomyopathy

cardiac toxicity, cardiotoxicity, toxicity, cardiac

bidirectional ventricular tachycardia induced by catecholamine, cpvt, malignant paroxysmal ventricular tachycardia, polymorphic ventricular tachycardia induced by catecholamines

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

cadasil, hereditary multi-infarct dementia

cernunnos deficiency, cernunnos xlfd, combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome, nhej1 deficiency

cervical artery dissection

hereditary motor and sensory neuropathy type 1

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

acute myeloid leukemia (aml), acute myeloid leukemia of childhood, childhood acute granulocytic leukemia, childhood acute myeloblastic leukemia, childhood acute myelocytic leukemia, childhood acute myelogenous leukemia, childhood acute myeloid leukaemia, childhood acute myeloid leukemia, childhood aml, paediatric acute myeloid leukaemia, pediatric acute myeloblastic leukemia, pediatric acute myelocytic leukemia, pediatric acute myelogenous leukemia, pediatric acute myeloid leukemia, pediatric aml

bile occlusion, obstruction of bile duct

distal 16p11.2 microdeletion syndrome

chronic granulocytic leukemia, chronic myelogenous leukemia, cml

class 3 obesity, class iii obesity, extreme obesity, severe obesity, severe_obesity

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

coffin-siris syndrome

cognitive debriefing

congenital cataract

cchs, central congenital hypoventilation syndrome, congenital central alveolar hypoventilation syndrome, ondine curse, ondine syndrome

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

congenital heart disease

chd, congenital anomaly of heart, congenital heart defect, congenital heart defects, congenital heart disease, heart defect, heart malformation

l-cmd, lmna-related congenital muscular dystrophy

congenital myasthenic syndrome

copper binding

cornelia de lange syndrome

coronary slow flow phenomenon, csfp

cerebral creatine deficiency syndrome 1, slc6a8 deficiency

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

beta catenin gene mutation, beta-catenin gene mutation, cadherin-associated protein, beta 1 (88kd) gene mutation, cadherin-associated protein, beta gene mutation, catenin beta 1 gene mutation, catenin beta-1 gene mutation, ctnnb gene mutation, ctnnb1 gene mutation, positive

cystic fibrosis

cf, mucoviscidosis

cytochrome-c oxidase deficiency, isolated cox deficiency, isolated mitochondrial respiratory chain complex iv deficiency, mitochondrial complex iv deficiency

antopol disease, pseudoglycogenosis ii

deafness, autosomal recessive 1a, dfnb1a

dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

desmin-related myofibrillar myopathy

dee26, early infantile epileptic encephalopathy 26, early infantile epileptic encephalopathy caused by mutation in kcnb1, eiee26, epileptic encephalopathy, early infantile, 26, epileptic encephalopathy, early infantile, 26; eiee26, epileptic encephalopathy, early infantile, type 26, kcnb1 early infantile epileptic encephalopathy

dee46, early infantile epileptic encephalopathy caused by mutation in grin2d, eiee46, epileptic encephalopathy, early infantile, 46, epileptic encephalopathy, early infantile, 46; eiee46, epileptic encephalopathy, early infantile, type 46, grin2d early infantile epileptic encephalopathy

delayed developmental milestones, developmental delay

diabetes, diabetes mellitus, diabetes_mellitus, dm

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

congestive cardiomyopathy, dilated cardiomyopathy

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

complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, 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), 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

drug induced hepatotoxicity, drug-induced disorder of liver, drug-induced liver disease, drug-induced liver injury, hepatitis, drug-induced, hepatitis, toxic, liver injury, drug-induced, toxic hepatitis

muscular dystrophy, duchenne

duchenne, duchenne muscular dystrophy

dmd, severe dystrophinopathy, duchenne type

dkc, dyskeratosis congenita, zinsser-engman-cole syndrome

ehlers-danlos syndrome

edmd

emery-dreifuss muscular dystrophy

endocrine neoplasm, endocrine tumor, malignant endocrine tumor, malignant neoplasm of endocrine gland, malignant tumour of endocrine gland, neoplasm of endocrine gland, neoplasm of endocrine system

epidermolysis bullosa dystrophica, autosomal recessive, rdeb, recessive dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

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, 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, 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)

convulsive encephalopathy

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

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

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

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

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

classic hemophilia a, congenital factor viii disorder, hemophilia a, subhemophilia

adenomatous polyposis of the colon

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

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

congenital long qt syndrome, lqts

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

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

fanconi pancytopenia

glycogen storage disease due to glut2 deficiency, 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

keller syndrome, opitz-kaveggia syndrome

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

floating-harbor syndrome

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

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

friedreich ataxia, friedreich's ataxia

frontotemporal dementia

ftd

yy1 haploinsufficiency syndrome

acid beta-glucosidase deficiency, glucocerebrosidase deficiency

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

generalized epilepsy

gitelman syndrome

glycogenosis

healthy

cardiac dis, cardiac disease, cardiac diseases, disease of heart, disease or disorder of heart, disease, cardiac, disease, heart, diseases, cardiac, diseases, heart, disorder of heart, disorder of heart/pericardium, heart dis, heart disease, heart disease or disorder, heart diseases, heart disorder, heart trouble, heart/pericardial disease, heart/pericardial disease or disorder, heart/pericardial disorder, heart/pericardial trouble

blood disease, blood disorder, blood dyscrasia, disease of hematopoietic system, disease of the blood and blood-forming organs, disease or disorder of hematopoietic system, disorder of hematopoietic system, haematological system disease, haematological system disorder, hematologic and lymphocytic disorder, hematologic disease, hematologic diseases, hematologic disorder, hematological disease, hematological disorder, hematological system disease, hematological system disorder, hematopoietic disease, hematopoietic system disease, hematopoietic system disease or disorder, rare hematologic disease

christmas disease, factor ix deficiency, hemophilia b, hereditary factor ix deficiency, hereditary factor ix deficiency disease

hepatocyte nuclear factor 1-alpha-associated monogenic diabetes, hnf1a-associated monogenic diabetes, maturity-onset diabetes of the young, type 3, mody3

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

hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple congenital exostosis, multiple exostosis syndromes, multiple ostechondromas, osteochondromatosis syndrome

hereditary spastic paraplegia

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

herpes simplex encephalitis

holt-oram syndrome

huntington chorea

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

hgps, progeria

endogenous hyperlipidaemia, familial hypertriglyceridemia, fredrickson type iv hyperlipoproteinemia, fredrickson type iv hyperlipoproteinemia (disorder), fredrickson type iv lipidaemia, fredrickson type iv lipidemia, hyperlipoproteinemia type iv, vldl hyperlipoproteinemia

familial hypercholesterolemia, fh, hyperlipidemia type iia, hyperlipoproteinemia type iia, type iia hyperlipidemia

endogenous hyperlipidaemia, familial hypertriglyceridemia, fredrickson type iv hyperlipoproteinemia, fredrickson type iv lipidaemia, fredrickson type iv lipidemia, vldl hyperlipoproteinemia

cardiomyopathy, hypertrophic, enlarged and thickened heart muscle, hcm

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

h-abc

hlhs

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

autoimmune disease nec, autoimmune disease, not elsewhere classified, autoimmune diseases, defic cell immunity nos, deficiency of cell-mediated immunity, disease of immune system, disease or disorder of immune system, disorder of immune system, disorder of the immune mechanism nos, disorder of the immune mechanism nos (disorder), disorders involving the immune mechanism, immundef t-cell def nos, immune disease, immune disorder, immune dysfunction, immune mechanism dis nec, immune mechanism dis nos, immune system and related disorders, immune system disease, immune system disease or disorder, immune system disorder, 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)

immunodeficiency, immunodeficient

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

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

intellectual disabilities, intellectual disability

intermediate ebs with cardiomyopathy

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

jals, juvenile charcot disease, juvenile lou gehrig disease

jhd, juvenile huntington chorea

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

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

kabuki make-up syndrome, niikawa-kuroki syndrome

dry eyes, keratitis sicca, xerophthalmia

chromosome 9q34.3 deletion syndrome, kleefstra syndrome

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

galactocerebrosidase deficiency, galactosylceramidase deficiency, galc deficiency, globoid cell leukodystrophy

lama2-related muscular dystrophy

lca, leber's amaurosis, leber's congenital amaurosis, leber's disease

leber congenital amaurosis

left ventricular non-compaction cardiomyopathy

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

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

lgmd2b, limb-girdle muscular dystrophy type 2b

lissencephaly

long qt syndrome, ventricular arrhythmia associated with long qt syndrome

lqt1, ventricular fibrillation with prolonged qt interval

long qt syndrome 1, lqt1, romano-ward syndrome

lqt2

long qt syndrome 2, lqt2

long qt syndrome 3, lqt3

long qt syndrome 8, lqt8, timothy syndrome

x-linked intellectual disability with marfanoid habitus

fehr corneal dystrophy, macular dystrophy, corneal, 1

macular degeneration of retina

marfan syndrome, marfan's syndrome

mfs

mody10

meniere disease, meniere's disease, mnire's vertigo, otogenic vertigo

mental retardation

mental retardation, autosomal dominant 39, mrd39

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

myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome, myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome

mtdna depletion syndrome

maturity-onset diabetes of the young

monogenic diabetes mellitus

22q13.3 deletion, phelan-mcdermid syndrome

moyamoya disease

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

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

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

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, myocardial infarction (disease), myocardial infarction (disorder), myocardial infarction nos, myocardial infarction, (mi), myocardial infarction, nos, myocardial infarctions, myocardial infarcts

benign infantile myoclonic epilepsy, cryptogenic myoclonic epilepsy, early childhood epilepsy, myoclonic, early childhood, myoclonic epilepsy, encephalopathy, myoclonic, epilepsy, early childhood, myoclonic, epilepsy, myoclonic, early childhood, epilepsy, myoclonic, infantile, epilepsy, myoclonic, infantile, benign, epilepsy, myoclonic, infantile, severe, epilepsy, myoclonus, idiopathic myoclonic epilepsy, infantile severe myoclonic epilepsy, myoclonic absence epilepsymyoclonic astatic epilepsy, myoclonic encephalopathy, myoclonic epilepsy, myoclonic epilepsy, benign infantilemyoclonic epilepsy, early childhood, myoclonic epilepsy, infantile, myoclonic epilepsy, infantile, benign, myoclonic epilepsy, infantile, severe, myoclonic epilepsy, severe infantile, myoclonic epilepsy, severe, of infancy, myoclonic seizure disorder, severe infantile myoclonic epilepsy, severe myoclonic epilepsy of infancy, severe myoclonic epilepsy, infantile, symptomatic myoclonic epilepsy

myopathy

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

neurodevelopmental disorder

acoustic neurofibromatosis, central neurofibromatosis, peripheral neurofibromatosis, recklinghausen's neurofibromatosis, von reklinghausen disease

neurofibromatosis, neurofibromatosis syndrome, neurofibromatosis, nos

neurofibromatosis, neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 1 microdeletion syndrome, neurofibromatosis, type 1, nf1, peripheral neurofibromatosis, von recklinghausen disease, von reklinghausen disease

neuronal intranuclear inclusion disease, niid

non-specific eoee, undetermined early-onset epileptic encephalopathy, undetermined eoee

noonan syndrome, noonan's syndrome

health, normalcy, normalities, normality