Diseases associated to hPSCreg cell lines

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

polr-related leukodystrophy

6q27

7q11.23 duplication syndrome, chromosome 7q11.23 duplication syndrome, chromosome 7q11.23 triplication syndrome, dup(7)(q11.23), somerville-van der aa syndrome, trisomy 7q11.23, wbs duplication syndrome, wbs triplication syndrome, williams-beuren region duplication syndrome

aceruloplasminemia, cerebellar ataxia, ceruloplasmin deficiency, familial apoceruloplasmin deficiency, hemosiderosis, systemic, due to aceruloplasminemia, hereditary ceruloplasmin deficiency, hypoceruloplasminemia, hypoceruloplasminemia, hereditary, systemic hemosiderosis due to aceruloplasminemia

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

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

acne, acne vulgaris

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

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

adnp syndrome, adnp-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, autosomal dominant intellectual disability 28, autosomal dominant mental retardation 28, helsmoortel-van der aa syndrome, hvdas, intellectual disability, autosomal dominant 28, mental retardation, autosomal dominant 28, mrd28

adrenoleukodystrophy, schilder disease

hereditary diffuse leukoencephalopathy with spheroids

age related macular degeneration, age related maculopathies, age related maculopathy, age-related macular degeneration, amd, armd, macular degeneration, age-related, senile macular degeneration, senile macular retinal degeneration

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

ags, cree encephalitis

ags1, aicardi-goutieres syndrome 1, cree encephalitis, encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis, pseudotoxoplasmosis syndrome

ags5, aicardi-goutieres syndrome 5

alagille syndrome, alagille-watson syndrome, arteriohepatic dysplasia, cardiovertebral syndrome, hepatic ductular hypoplasia, hepatofacioneurocardiovertebral syndrome, paucity of interlobular bile ducts, syndromic bile duct paucity, watson alagille syndrome, watson-miller syndrome

alagille syndrome, arteriohepatic dysplasia

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

a-1atd, a1ad, a1at deficiency, a1atd, aat deficiency, aatd, alpha 1 antitrypsin deficiency, alpha 1-antitrypsin deficiency, alpha-1 antitrypsin deficiency, alpha-1-antitrypsin deficiency, deficiency in alpa-1-proteinase inhibitor, emphysema due to aat deficiency, emphysema-cirrhosis, due to aat deficiency, hemorrhagic diathesis due to antithrombin pittsburgh

a-thalassemia, alpha thalassaemia, alpha thalassemia spectrum, alpha-thalassemia, alpha-thalassemia trait, thalassemia, alpha-, thalassemias, alpha-

a-1atd, a1ad, alpha 1-antitrypsin disease, alpha-1 antitrypsin, alpha-1 antitrypsin deficiency, alpha-1-antitrypsin deficiency

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

alport syndrome, alport's syndrome, hereditary nephritis

alport deafness-nephropathy, alport hearing loss-nephropathy

alzheimer disease, late-onset form of familial alzheimer disease

ad, alzheimer dementia, alzheimer disease, alzheimer disease, familial, alzheimer's dementia, alzheimer's disease, alzheimers dementia, alzheimers disease, presenile and senile dementia

ad, ad3, alzheimer disease 3, alzheimer disease 3, early onset, alzheimer disease 3, early-onset, alzheimer disease early onset type 3, alzheimer disease familial 3, alzheimer disease type 3, alzheimer disease, familial, 3, alzheimer disease, familial, 3, with spastic paraparesis and apraxia, alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques, alzheimer disease, protection against, due to apoe3-christchurch, alzheimer disease, type 3, alzheimer disease, type 3, with spastic paraparesis and apraxia, alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 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 familial type 4, alzheimer disease type 4, alzheimer disease, familial, 4, alzheimer disease, familial4, alzheimer disease-4, alzheimer's disease 4, alzheimer's disease type 4, familial alzheimer disease, type 4, familial alzheimer's disease, type 4

ad, ad1, alzheimer disease, alzheimer disease 1, alzheimer disease 1, familial, alzheimer disease, early-onset, with cerebral amyloid angiopathy, alzheimer disease, familial, 1, alzheimer disease, late-onset, susceptibility to, alzheimer disease, protection against, alzheimer disease, susceptibility to, early-onset familial form of alzheimer disease, presenile and senile dementia

alzheimer disease, alzheimers dementia

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

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

als, amyotrophic lateral sclerosis, lou gehrig disease

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

anaemia (disease), anemia, anemia (disease)

aneuploid, aneuploidy

angelman syndrome

aniridia

ankylosing spondylitis, ankylosing spondylitis of unspecified sites in spine

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

aortic dilatation, aortic dilation

aortic dissection, dissection of unspecified site of aorta

aortic root dilatation, bulge in wall of root of large artery that carries blood away from heart, enlarged aortic root, increased aortic root diameter

argininosuccinate lyase deficiency, argininosuccinic aciduria

arrhythmia, cardiac arrhythmia

arrhythmogenic right ventricular dysplasia, arrhythmogenic right ventricular dysplasia/cardiomyopathy, arvc, arvc cardiomyopathy, arvd, right ventricular acm

arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia, arrhythmogenic right ventricular dysplasia/cardiomyopathy, arrhythmogenic rvd, arvc, arvc cardiomyopathy, arvd, right ventricular dysplasia

arrhythmogenic right ventricular cardiomyopathy, arrhythmogenic right ventricular dysplasia, arrhythmogenic rvd, arvd, right ventricular dysplasia

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

arrhythmogenic right ventricular cardiomyopathy 5, arrhythmogenic right ventricular cardiomyopathy caused by mutation in tmem43, arrhythmogenic right ventricular dysplasia 5, arrhythmogenic right ventricular dysplasia type 5, arrhythmogenic right ventricular dysplasia, familial, 5, arrhythmogenic right ventricular dysplasia, familial, type 5, arvc5, arvd5, familial arrhythmogenic right ventricular dysplasia 5, tmem43 arrhythmogenic right ventricular cardiomyopathy

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

arrhythmogenic right ventricular cardiomyopathy 9, arrhythmogenic right ventricular dysplasia 9, arrhythmogenic right ventricular dysplasia type 9, arrhythmogenic right ventricular dysplasia, familial, 9, arrhythmogenic right ventricular dysplasia, familial, type 9, arvc9, arvd9, familial arrhythmogenic right ventricular dysplasia 9, familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in pkp2, pkp2 familial isolated arrhythmogenic right ventricular dysplasia

asthma, bronchial asthma, reactive airway disease

ataxia telangiectasia, ataxia telangiectasia syndrome, ataxia-telangiectasia, ataxia-telangiectasia syndrome, louis-bar syndrome

allergic dermatitis, allergic form of dermatitis, atod, 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

a-fib, afib

af, afib, atrial fibrillation

av block

adhd, attention deficit hyperactivity disorder, attention deficit-hyperactivity disorder, 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 disorder, attention deficit hyperactivity disorders, attention deficit-hyperactivity disorder, attention deficit/hyperactivity disorder, 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

ansd, auditory dys-synchrony, auditory neuropathy, auditory neuropathy spectrum disorder

autism

autism, autistic disorder

autism spectrum disorder, pervasive developmental disorders

atypical 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 disorder - not otherwise specified, pervasive developmental disorders, spectrum disorder, autism, spectrum disorders, autism

asd due to auts2 deficiency, auts2 syndrome

autoimmune interstitial lung disease-arthritis syndrome, copa syndrome

spinocerebellar ataxia

autosomal dominant deafness 58, dfna58

autosomal dominant optic atrophy

doa+, optic atrophy-deafness-polyneuropathy-myopathy syndrome, optic atrophy-hearing loss-polyneuropathy-myopathy syndrome

atypical parkinson disease, autosomal dominant parkinson disease 1, autosomal dominant parkinson disease type 1, autosomal dominant parkinson's disease 1, park1, parkinson disease 1, autosomal dominant, parkinson disease 1, autosomal dominant lewy body

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, congenital biliary ectasias, polycystic kidney disease, adult type, polycystic kidney disease, adult type (disorder), polycystic kidney disease, autosomal dominant, polycystic kidney, autosomal dominant, polycystic kidneys - adult type

spg10

autosomal dominant torsion dystonia 1, dyt1

arcl2d

autosomal recessive juvenile parkinson disease, autosomal recessive juvenile parkinson disease 2, autosomal recessive juvenile parkinson disease type 2, autosomal recessive juvenile parkinson's disease 2, jp, juvenile parkinsonism, park2, parkinson disease 2, parkinson disease 2, autosomal recessive juvenile, parkinson disease autosomal recessive, early onset, parkinson disease, juvenile, autosomal recessive, parkinson disease, juvenile, type 2, parkinsonism, early onset, with diurnal fluctuation, parkinsonism, early-onset, with diurnal fluctuation, pdj, prkn young-onset parkinson disease, young-onset parkinson disease caused by mutation in prkn

infantile malignant osteopetrosis

autosomal recessive deafness 12, dfnb12

autosomal recessive osteopetrosis, malignant osteopetrosis

infantile malignant osteopetrosis 2, optb4

adult-onset dystonia - parkinsonism, autosomal recessive parkinson disease type 14, autosomal recessive parkinson's disease 14, dystonia-parkinsonism adult-onset, dystonia-parkinsonism, adult-onset, dystonia-parkinsonism, paisan-ruiz type, hereditary late onset parkinson disease caused by mutation in pla2g6, park14, parkinson disease 14, autosomal recessive, pla2g6 hereditary late onset parkinson disease, pla2g6-related dystonia-parkinsonism

autosomal recessive polycystic kidney, autosomal recessive polycystic kidney disease, polycystic kidney disease, infantile type

arsacs, autosomal recessive spastic ataxia type 6, spax6

aspermia, azoospermia

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

bbs

3-methylglutaconic aciduria type 2, barth syndrome

benign congenital myopathy, benign pseudohypertrophic muscular dystrophy

becker dystrophinopathy, becker muscular dystrophy, becker muscular dystrophy, x-linked recessive, becker's muscular dystrophy, benign congenital myopathy, benign pseudohypertrophic muscular dystrophy, bmd, muscular dystrophy pseudohypertrophic progressive, becker type, muscular dystrophy, becker type, muscular dystrophy, pseudohypertrophic progressive, becker type

becker dystrophinopathy, bmd

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

bbgd, biotin-responsive basal ganglia disease, btbgd

bipolar affective disorder, bipolar depression, bipolar disorder, bipolar disorder manic phase, depressive-manic psych., mafd, major affective disorder, major bipolar affective disorder, manic bipolar affective disorder, manic bipolar i disorder, manic depression, manic depressive disorder, manic disorder, manic-depression, manic-depressive illness, manic-depressive psychosis, mixed bipolar disorder

bipolar disorder, bipolar disorder, unspecified, manic depressive disorder, manic-depression

birt-hogg-dube syndrome

blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type, blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, bmrs, maat-kievit-brunner type, bmrs, mkb type, ohdo syndrome, x-linked, ohdo syndrome, x-linked, x-linked recessive, ohdox, x-linked ohdo syndrome

breast cancer, breast tumor, breast tumour, cancer of breast, malignant breast neoplasm, malignant breast tumor, malignant breast tumour, malignant neoplasm of breast, malignant neoplasm of the breast, malignant tumor of breast, malignant tumor of the breast, malignant tumour of breast, malignant tumour of the breast, mammary cancer, mammary neoplasm, mammary tumor, mammary tumour, primary breast cancer

breast cancer, breast cancer, nos, breast carcinoma, cancer of breast, cancer of the breast, carcinoma of breast, carcinoma of the breast, mammary carcinoma

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

idiopathic ventricular fibrillation, brugada type

brgda1

autosomal recessive limb-girdle muscular dystrophy type 2a, calpain-3-related lgmd r1, lgmd type 2a, lgmd2a, limb-girdle muscular dystrophy due to calpain deficiency, limb-girdle muscular dystrophy type 2a, primary calpainopathy

canavan disease, spongy degeneration of central nervous system

malignant neoplasm, malignant tumor, primary cancer

carasil, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebrovascular disease with thin skin, alopecia, and disc disease, cerebrovascular disease with thin skin, alopecia, and disk disease, maeda syndrome, subcortical vascular encephalopathy, progressive

carbamoyl phosphate synthetase 1 deficiency, carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to, carbamoyl phosphate synthetase deficiency, carbamoyl phosphate synthetase i deficiency disease, carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, carbamoyl-phosphate synthase deficiency disease, carbamoyl-phosphate synthetase 1 deficiency, carbamoyl-phosphate synthetase deficiency, carbamoyl-phosphate synthetase i deficiency, carbamoylphosphate synthetase i deficiency, carbamyl phosphate synthetase (cps) deficiency, cps 1 deficiency, cps i deficiency, cps1 deficiency, cps1d, hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency

cardiomyopathies

cardiomyopathy, cardiomyopathy, nos

cardiac toxicity, cardiotoxicity, toxicity, cardiac

cataract, cataract (disease), opacity of the lens

bidirectional tachycardia induced by catecholamine, catecholamine-induced polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia, cpvt, double tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia, malignant paroxysmal ventricular tachycardia, multifocal ventricular premature beats, polymorphic catecholergic ventricular tachycardia, stress-induced polymorphic ventricular tachycardia, syncopal paroxysmal tachycardia, ventricular tachycardia, catecholaminergic polymorphic

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

casq2 catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia 2, catecholaminergic polymorphic ventricular tachycardia caused by mutation in casq2, catecholaminergic polymorphic ventricular tachycardia type 2, cpvt2, cvpt2, ventricular tachycardia, catecholaminergic polymorphic, 2, ventricular tachycardia, catecholaminergic polymorphic, type 2, ventricular tachycardia, stress-induced polymorphic

qualitative or quantitative defects of caveolin-3

cdc42, cdc42 gene, cell division cycle 42 gene

celiac disease, celiac sprue, coeliac disease, coeliac sprue

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

cabv syndrome, canvas, cerebellar ataxia with bilateral vestibulopathy syndrome, cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

cadasil, hereditary multi-infarct dementia

cerebral cavernous malformation

cerebral creatine deficiency syndrome 1, creatine transporter deficiency, slc6a8 deficiency

cerebrovascular disorder, cva, stroke

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

cervical artery dissection

charcot-marie-tooth disease, hereditary motor and sensory neuropathy, hereditary sensorimotor neuropathy

hereditary motor and sensory neuropathy type 1

hereditary motor and sensory neuropathy guadalajara neuronal type, hereditary motor and sensory neuropathy okinawa type, hereditary motor and sensory neuropathy type 2

cmt4b3

charcot-marie-tooth disease type 4 caused by mutation in sbf1, charcot-marie-tooth disease with focally folded myelin, charcot-marie-tooth disease, type 4b3, cmt4b3, sbf1 charcot-marie-tooth disease type 4

charcot-marie-tooth disease type 4b3, cmt4b3

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

chemically induced cardiac toxicity, chemically induced cardiotoxicity, toxicity, chemically induced cardiac

chemotherapeutic drug - induced peripheral neuropathy, chemotherapy-induced peripheral neuropathy, cipn

chemotherapy-related cognitive dysfunction, chemotherapy-related cognitive impairment, crci, post-chemotherapy cognitive impairment

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

bile occlusion, obstruction of bile duct

choroideremia, progressive choroidal atrophy

distal 16p11.2 microdeletion syndrome

bridges-good syndrome, cgd, chronic septic granulomatosis, congenital dysphagocytosis, granulomatous disease, chronic, quie syndrome

chronic intestinal pseudo-obstruction, cipo, intestinal pseudo-obstruction, chronic

b cell chronic lymphocytic leukemia, b cell cll, b cell lymphocytic leukemia, b-cell chronic lymphocytic leukemia, b-cell chronic lymphoid leukemia, b-cell cll, b-cell lymphocytic leukemia, bcll, chronic b-cell lymphocytic leukemia, chronic lymphatic leukemia, chronic lymphocytic leukemia, chronic lymphocytic leukemia (cll), chronic lymphocytic leukemia, nos, cll, hematopoeitic - chronic lymphocytic leukemia (cll)

chronic granulocytic leukemia, chronic myelogenous leukemia, cml

chronic obstructive airways disease, chronic obstructive lung disease, chronic obstructive pulmonary disease, chronic obstructive pulmonary disease (copd), chronic obstructive pulmonary disease, unspecified, cold, copd, obstructive lung disease

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

classic glut1 deficiency syndrome, classic glut1-ds, de vivo disease, encephalopathy due to glut1 deficiency

cloaca

chip, clonal hematopoiesis of indeterminate potential

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

cockayne syndrome

coffin-siris syndrome, css, dwarfism-onychodysplasia, fifth digit syndrome, intellectual disability with absent fifth fingernail and terminal phalanx, short stature-onychodysplasia.

coffin-siris syndrome

css

cognitive debriefing

coxpd23

cone dystrophy with night blindness and supernormal rod responses kcnv2 related, cone dystrophy with night blindness and supernormal rod responses, kcnv2-related, cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod erg, cone dystrophy with supernormal rod response, cone dystrophy with supernormal rod responses, cone dystrophy with supernormal scotopic electroretinogram, kcnv2-related retinopathy, rcd3b, retinal cone dystrophy 3b, retinal cone dystrophy type 3b

cone dystrophy with supernormal rod electroretinogram, cone dystrophy with supernormal rod erg, cone dystrophy with supernormal scotopic electroretinogram

cone-rod retinal dystrophy

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

cddg, congenital disorder of deglycosylation

congenital heart disease

abnormalities, heart, abnormality, heart, chd, congenital anomaly of heart, congenital heart defect, congenital heart defects, congenital heart disease, defect, congenital heart, defects, congenital heart, heart abnormalities, heart abnormality, heart defect, heart defect, congenital, heart malformation, heart, malformation of, heart-congenital defect

cmd, mdc

l-cmd, lmna-related congenital muscular dystrophy

congenital myasthenic syndrome

congenital myotonic dystrophy

copper binding, copper/cadmium binding

cornelia de lange syndrome

coronary artery spasm, coronary vasospasm

coronary slow flow phenomenon, csfp

cbgd, cortical basal ganglionic degeneration, cortical-basal ganglionic degeneration, cortico-basal ganglionic degeneration (cbgd), corticobasal degeneration, corticobasal syndrome, corticodentatonigral degeneration with neuronal achromasia

2019 novel coronavirus (2019-ncov), 2019-ncov infection, covid19, sars-cov-2 infection, wuhan coronavirus infection, wuhan seafood market pneumonia virus infection

2019-ncov infection, acute covid-19, acute covid-19 case, covid-19, covid-19 infection, covid-19 virus infection, hcov-19 infection, human coronavirus 2019 infection, sars coronavirus 2 infection, sars-2 infection, sars-cov-2 disease, sars-cov-2 infection, sars-cov2 disease, sars-cov2 infection, sars2 infection, severe acute respiratory syndrome coronavirus 2 infection

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

cpi-b, cst6, cstb wt allele, cystatin b (stefin b) gene, cystatin b wt allele, epm1, epm1a, pme, stfb, uld

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, ctnnb1 mutation, positive

cystic fibrosis

cf, mucoviscidosis

complex 4 mitochondrial respiratory chain deficiency, complex iv deficiency, cox deficiency, cytochrome c oxidase deficiency, cytochrome-c oxidase deficiency, cytochrome-c oxidase deficiency disease, deficiency of mitochondrial respiratory chain complex4, isolated cox deficiency, isolated cytochrome c oxidase deficiency, isolated mitochondrial respiratory chain complex iv deficiency, mitochondrial complex 4 deficiency, mitochondrial complex iv deficiency

antopol disease, pseudoglycogenosis ii

deafness, autosomal recessive 1a, dfnb1a

dent disease, x-linked recessive hypophosphatemic rickets

dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

depression, depressive disorder, depressive episode, depressivity

desmin-related myofibrillar myopathy

developmental and epileptic encephalopathy, early infantile epileptic encephalopathy, eiee

dee31, dee31a, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31

early infantile epileptic encephalopathy 7, kcnq2-related epileptic encephalopathy, kcnq2-related neonatal epileptic encephalopathy

dee7, developmental and epileptic encephalopathy 7, eiee7, epileptic encephalopathy, early infantile, 7

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

dee28, developmental and epileptic encephalopathy 28, early infantile epileptic encephalopathy caused by mutation in wwox, eiee28, epileptic encephalopathy, early infantile, 28, epileptic encephalopathy, early infantile, type 28, woree syndrome, wwox early infantile epileptic encephalopathy, wwox-related epileptic encephalopathy

dee46, developmental and epileptic encephalopathy 46, 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

dee60, developmental and epileptic encephalopathy 60, eiee60, epileptic encephalopathy, early infantile, 60

dee7, developmental and epileptic encephalopathy 7, eiee7, epileptic encephalopathy, early infantile, 7, epileptic encephalopathy, early infantile, type 7, kcnq2-nee, kcnq2-related disorders, kcnq2-related epileptic encephalopathy, kcnq2-related neonatal epileptic encephalopathy

delayed developmental milestones, developmental delay

diabetes

diabetes, diabetes mellitus, dm

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

diabetic kidney disease, diabetic nephropathy

retinal abnormality - diabetes-related

aase syndrome, aase-smith ii syndrome, anaemia congenital erythroid hypoplastic, anaemia diamond blackfan type, anemia congenital erythroid hypoplastic, anemia diamond blackfan type, aregenerative anaemia chronic congenital, aregenerative anemia chronic congenital, bds, blackfan - diamond syndrome, blackfan diamond syndrome, blackfan-diamond anaemia, blackfan-diamond anemia, chronic constitutional pure red cell anaemia, chronic constitutional pure red cell anemia, congenital hypoplastic anaemia, congenital hypoplastic anemia, congenital hypoplastic anemia, blackfan-diamond type, congenital prca, congenital pure red cell aplasia, dba, diamond blackfan anemia, diamond-blackfan anemia, erythrogenesis imperfecta, inherited erythroblastopenia, red cell aplasia, pure hereditary

aase syndrome, aase-smith syndrome 2, anemia, congenital erythroid hypoplastic, anemia, congenital hypoplastic, of blackfan and diamond, aregenerative anemia, chronic congenital, blackfan-diamond syndrome, dba, dba1, diamond-blackfan anaemia caused by mutation in rps19, diamond-blackfan anaemia type 1, diamond-blackfan anemia 1, diamond-blackfan anemia caused by mutation in rps19, diamond-blackfan anemia type 1, erythrogenesis imperfecta, red cell aplasia, pure, hereditary, rps19 diamond-blackfan anaemia, rps19 diamond-blackfan anemia

congestive cardiomyopathy, dilated cardiomyopathy, familial dilated cardiomyopathy, idiopathic dilation cardiomyopathy, primary dilated cardiomyopathy

congestive cardiomyopathy, dilated cardiomyopathy

cardiomyopathies, congestive, cardiomyopathies, dilated, cardiomyopathies, familial idiopathic, cardiomyopathy, congestive, cardiomyopathy, dilated, cardiomyopathy, dilated, cmd1a, cardiomyopathy, dilated, lmna, cardiomyopathy, dilated, with conduction deffect1, cardiomyopathy, familial idiopathic, ccm - congestive cardiomyopathy, cocm - congestive cardiomyopathy, congestive cardiomyopathies, congestive cardiomyopathy, congestive cardiomyopathy (disorder), congestive dilated cardiomyopathy, dcm, dcm - dilated cardiomyopathy, dilated cardiomyopathies, dilated cardiomyopathy, familial dilated cardiomyopathy, familial idiopathic cardiomyopathies, familial idiopathic cardiomyopathy, idiopathic cardiomyopathies, familial, idiopathic cardiomyopathy, familial, idiopathic dilation cardiomyopathy, primary dilated cardiomyopathy, primary dilated cardiomyopathy (disorder)

cardiomyopathy, dilated, 1g, cardiomyopathy, dilated, type 1g, cmd1g, dilated cardiomyopathy type 1g, familial isolated dilated cardiomyopathy caused by mutation in ttn, ttn familial isolated dilated cardiomyopathy