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, leukemia, acute promyelocytic, somatic, promyelocytic leukemia

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

adrenoleukodystrophy, schilder disease

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

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

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

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

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

als, amyotrophic lateral sclerosis, lou gehrig disease

als, charcot disease, lou gehrig disease

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

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

aneuploid, aneuploidy

angelman syndrome

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

aortic dissection

arrhythmia, cardiac arrhythmia

arrhythmogenic right ventricular dysplasia, arvc, arvd

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

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, susceptibility to, 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

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

autosomal dominant optic atrophy

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

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

spg10

autosomal dominant torsion dystonia 1, dyt1

autosomal recessive osteopetrosis, malignant osteopetrosis

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

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

bbs

3-methylglutaconic aciduria type 2, barth syndrome

becker dystrophinopathy, bmd

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

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

bipolar disorder, manic depressive disorder, manic-depression

birt-hogg-dube syndrome

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

cardiomyopathy, cardiomyopathy, nos

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

cerebral cavernous malformation

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

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

choroideremia, progressive choroidal atrophy

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

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

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

congenital cataract

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

cornelia de lange syndrome

coronary slow flow phenomenon, csfp

2019-ncov infection, 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

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

deafness, autosomal recessive 1a, dfnb1a

dent disease, x-linked recessive hypophosphatemic rickets

dentatorubropallidoluysian atrophy, drpla, naito-oyanagi disease

depression, depressivity

desmin-related myofibrillar myopathy

developmental and epileptic encephalopathy, early infantile epileptic encephalopathy, eiee

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

diabetic kidney disease, diabetic nephropathy

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 idiopathic cardiomyopathies, familial idiopathic cardiomyopathy, idiopathic cardiomyopathies, familial, idiopathic cardiomyopathy, familial, primary dilated cardiomyopathy, primary dilated cardiomyopathy (disorder)

distal renal tubular acidosis

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

down syndrome, down's syndrome, trisomy 21, trisomy 21 (down syndrome), trisomy 21 syndrome

complete trisomy 21 syndrome, complete trisomy 21 syndrome (disorder), down syndrome, down syndrome, isolated cases, 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, leukemia, megakaryoblastic, with or without down syndrome, somatic, 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

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

dry eye, dry eye syndrome, dry eye(s), keratoconjunctivitis sicca

duchenne, duchenne muscular dystrophy

dmd, severe dystrophinopathy, duchenne type

dkc, dyskeratosis congenita, zinsser-engman-cole syndrome

early infantile epileptic encephalopathy with suppression-bursts, eiee, ohtahara syndrome

ehlers-danlos syndrome

emery-dreifuss muscular dystrophy

epidermodysplasia verruciformis, ev, lewandowsky-lutz dysplasia

epidermolysis bullosa

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

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 a deficiency, angiokeratoma corporis diffusum, fabry disease, fabry's disease

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

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 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

fibrodysplasia ossificans progressiva, myositis ossificans progressiva

focal segmental glomerulosclerosis, fsgs, fsgs - 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

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

non-cerebral juvenile gaucher disease

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

generalized epilepsy

gitelman syndrome

glomerulopathy

g-6-pd variant enzyme deficiency anemia, g6pd, g6pd deficiency, glucose-6-phosphate dehydrogenase deficiency

glycogen storage disease type iii

healthy, well

hearing loss

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

cardiac failure, heart failure

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

factor viii deficiency, fviii deficiency

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

carcinoma of liver cells, carcinoma of the liver cells, carcinoma, hepatocellular, malignant, hcc, hepatocellular cancer, hepatocellular carcinoma, hepatoma, lihc, liver cell cancer (hepatocellular carcinoma), liver cell carcinoma, primary carcinoma of liver cells, primary carcinoma of the liver cells

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

hepatolenticular degeneration, wilson disease, wilson's disease

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

hereditary retinal dystrophy

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

cholesterol high, high cholesterol, hypercholesterolemia

hyperinsulinemia hypoglycemia, hyperinsulinemic hypoglycemia, hyperinsulinemic hypoglycemia (disease), islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy

hyperlipoproteinemia

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

high blood pressure, high blood pressure/ hypertension, htn, hypertension, vascular hypertensive disorder

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

hypophosphatasia

hlhs

berger disease, berger's disease, berger's iga or igg nephropathy, focal glomerulonephritis, glomerulonephritis, iga, iga glomerulonephritis, iga nephropathy, igan, 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 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

infertility

autoimmune bowel disorder, ibd, inflammatory bowel disease

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

joubert syndrome

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

kcnq2-nee, kcnq2-related neonatal epileptic encephalopathy

nasodigitoacoustic syndrome

dry eyes, keratitis sicca, xerophthalmia

chromosome 9q34.3 deletion syndrome, kleefstra syndrome

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

knobloch-layer syndrome, retinal detachment-occipital encephalocele syndrome

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

lama2-related muscular dystrophy

alzheimer senile dementia, alzheimer type senile dementia, late-onset alzheimer's, senile dementia, alzheimer type