acute lymphoblastic leukemia

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Chromosome breakage

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


autosomal dominant polycystic kidney disease


PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


developmental and epileptic encephalopathy, 7


hematopoietic and lymphoid system neoplasm


metabolic dysfunction-associated steatotic liver disease


inborn mitochondrial metabolism disorder


Clear-cell metastatic renal cell carcinoma


hereditary cryohydrocytosis with reduced stomatin


microvascular complications of diabetes, susceptibility to, 1


Bernard-Soulier syndrome, type A2, autosomal dominant


nonarteritic anterior ischemic optic neuropathy, susceptibility to


neonatal ichthyosis-sclerosing cholangitis syndrome


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


Leukemia, Megakaryoblastic, of Down Syndrome


primary cutaneous T-cell non-Hodgkin lymphoma


STAT3-related early-onset multisystem autoimmune disease


Noonan syndrome with multiple lentigines


autosomal recessive polycystic kidney disease


primary familial polycythemia due to EPO receptor mutation


Precursor B-Cell Lymphoblastic Leukemia-Lymphoma


congenital myopathy 2a, typical, autosomal dominant


epilepsy with generalized tonic-clonic seizures


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive


progressive scapulohumeroperoneal distal myopathy


diffuse nonepidermolytic palmoplantar keratoderma


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


adult acute respiratory distress syndrome


infantile neuronal ceroid lipofuscinosis


autosomal dominant nonsyndromic hearing loss 64


hyperlipidemia, familial combined, LPL related


X-linked lymphoproliferative disease due to XIAP deficiency


myelodysplastic syndrome with single lineage dysplasia


intervertebral disk degenerative disorder


chronic myelogenous leukemia, BCR-ABL1 positive


migraine with or without aura, susceptibility to, 1


Charcot-Marie-Tooth disease axonal type 2F


ectodermal dysplasia and immunodeficiency 2


heritable pulmonary arterial hypertension


severe combined immunodeficiency due to IKK2 deficiency


congenital generalized lipodystrophy type 3


partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


mandibuloacral dysplasia with type A lipodystrophy


inflammatory skin and bowel disease, neonatal, 2


neuronopathy, distal hereditary motor, type 2B


respiratory syncytial virus infectious disease


autosomal dominant nonsyndromic hearing loss 69


hyperpigmentation with or without hypopigmentation, familial progressive


Charcot-Marie-Tooth disease recessive intermediate D


Hemangioma, Cavernous, Central Nervous System


ichthyosis, congenital, autosomal recessive 12


hemolytic anemia due to adenylate kinase deficiency


inborn disorder of amino acid metabolism


cerebral amyloid angiopathy, APP-related


non-spherocytic hemolytic anemia due to hexokinase deficiency


bone fragility with contractures, arterial rupture, and deafness


bronchiectasis with or without elevated sweat chloride 1


chronic recurrent multifocal osteomyelitis


congenital bilateral aplasia of vas deferens from CFTR mutation


junctional epidermolysis bullosa, non-Herlitz type


digestive system neuroendocrine neoplasm


glycogen storage disease due to aldolase A deficiency


IFAP syndrome 1, with or without BRESHECK syndrome


keratosis follicularis spinulosa decalvans, X-linked


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


microvascular complications of diabetes, susceptibility to, 3


microvascular complications of diabetes, susceptibility to, 6


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


otospondylomegaepiphyseal dysplasia, autosomal dominant


congenital plasminogen activator inhibitor type 1 deficiency


renal tubular dysgenesis of genetic origin


spondyloepiphyseal dysplasia with congenital joint dislocations


thyroid gland undifferentiated (anaplastic) carcinoma


autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal


efavirenz central nervous system toxicity, susceptibility to


congenital lipoid adrenal hyperplasia due to STAR deficency


MPI-congenital disorder of glycosylation


congenital disorder of glycosylation type II


autosomal dominant nonsyndromic hearing loss 2B


autosomal recessive nonsyndromic hearing loss 1A


developmental and epileptic encephalopathy, 19


developmental and epileptic encephalopathy, 27


developmental and epileptic encephalopathy, 45


ectodermal dysplasia 13, hair/tooth type


self-limited epilepsy with centrotemporal spikes


hypoxanthine guanine phosphoribosyltransferase partial deficiency


autosomal recessive congenital ichthyosis 4B


intellectual disability, autosomal dominant 6


autosomal recessive congenital ichthyosis 4A


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


intellectual disability, autosomal dominant 8


cone dystrophy with supernormal rod response


autosomal dominant nonsyndromic hearing loss 7


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


arthrogryposis, distal, with impaired proprioception and touch


Bosch-Boonstra-Schaaf optic atrophy syndrome


cholestasis, progressive familial intrahepatic, 4


severe X-linked mitochondrial encephalomyopathy


MGAT2-congenital disorder of glycosylation


Charcot-Marie-Tooth disease X-linked recessive 4


autosomal recessive nonsyndromic hearing loss 36


autosomal recessive nonsyndromic hearing loss 4


X-linked hereditary sensory and autonomic neuropathy with hearing loss


developmental and epileptic encephalopathy, 35


ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type


Ehlers-Danlos syndrome, arthrochalasia type


factor 5 and Factor VIII, combined deficiency of, 2


hereditary breast ovarian cancer syndrome


intellectual disability, X-linked, syndromic 33


arteriovenous malformations of the brain


kallikrein, decreased urinary activity of


methylmalonic aciduria and homocystinuria


Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal


growth hormone secreting pituitary adenoma 1


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


autosomal dominant progressive external ophthalmoplegia


autosomal recessive progressive external ophthalmoplegia


Renal Tubular Acidosis, Distal, With Hemolytic Anemia


Congenital abnormality of respiratory system


Rhabdoid Tumor Predisposition Syndrome 2


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


spondyloepimetaphyseal dysplasia, PAPSS2 type


spondyloepimetaphyseal dysplasia, Bieganski type


succinyl-CoA:3-ketoacid CoA transferase deficiency


diabetes mellitus, noninsulin-dependent, 5


attention deficit hyperactivity disorder, inattentive type


isolated focal cortical dysplasia type II


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


hypogonadotropic hypogonadism 7 with or without anosmia


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


severe combined immunodeficiency due to LCK deficiency


drug rash with eosinophilia and systemic symptoms


Avoidant Restrictive Food Intake Disorder


Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to


Moyamoya disease with early-onset achalasia


pulmonary edema of mountaineers, susceptibility to


idiopathic spontaneous coronary artery dissection


ectodermal dysplasia and immune deficiency


Extravasation of Diagnostic and Therapeutic Materials


frontotemporal dementia and/or amyotrophic lateral sclerosis 4


Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency


Invasive Pneumococcal Disease, Recurrent Isolated, 2


pigmented nodular adrenocortical disease, primary, 4


pregnancy loss, recurrent, susceptibility to, 2


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


autosomal recessive nonsyndromic hearing loss 97


autoimmune lymphoproliferative syndrome type 2A


maturity-onset diabetes of the young type 10


acromesomelic dysplasia 2C, Hunter-Thompson type


Cushing syndrome due to macronodular adrenal hyperplasia


isolated anhidrosis with normal sweat glands


Bleeding Disorder due to Defective Thromboxane A2 Receptor


cerebellar dysfunction with variable cognitive and behavioral abnormalities


Charcot-Marie-Tooth disease recessive intermediate C


central hypoventilation syndrome, congenital


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


autosomal dominant nonsyndromic hearing loss 4A


autosomal recessive nonsyndromic hearing loss 29


autosomal recessive nonsyndromic hearing loss 77


developmental and epileptic encephalopathy, 42


developmental and epileptic encephalopathy, 47


horizontal gaze palsy with progressive scoliosis


congenital brain dysgenesis due to glutamine synthetase deficiency


growth hormone-producing pituitary gland adenoma


porencephaly-microcephaly-bilateral congenital cataract syndrome


hereditary sensory and autonomic neuropathy


transient familial neonatal hyperbilirubinemia


Klippel-Feil syndrome 1, autosomal dominant


lethal congenital contracture syndrome 3


lethal congenital contracture syndrome 8


malignant hyperthermia, susceptibility to, 1


maturity-onset diabetes of the young type 8


intellectual disability, autosomal recessive 13


syndromic X-linked intellectual disability 94


microcephaly 1, primary, autosomal recessive


microphthalmia, isolated, with coloboma 6


microphthalmia, isolated, with coloboma 5


congenital multicore myopathy with external ophthalmoplegia


peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


solitary median maxillary central incisor syndrome


neuronopathy, distal hereditary motor, autosomal recessive 4


TELO2-related intellectual disability-neurodevelopmental disorder


metaphyseal chondrodysplasia, Spahr type


spondyloepimetaphyseal dysplasia, Missouri type


familial avascular necrosis of femoral head


obesity due to pro-opiomelanocortin deficiency


hypogonadotropic hypogonadism 23 with or without anosmia


hypogonadotropic hypogonadism 11 with or without anosmia


1,2,3,4,4a,5,10,10a-octahydro-6-methoxy-1-methylbenz(g)quinoline-3-carboxylic acid 4-(4-nitrophenyl)piperazine amide


growth delay due to insulin-like growth factor type 1 deficiency


autosomal recessive distal spinal muscular atrophy 2


spondylometaphyseal dysplasia, Sedaghatian type


complex cortical dysplasia with other brain malformations 1


fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement


frontotemporal dementia and/or amyotrophic lateral sclerosis 3


neonatal severe primary hyperparathyroidism


Hypocalcemia, Autosomal Dominant, with Bartter Syndrome


combined immunodeficiency due to ORAI1 deficiency


combined immunodeficiency due to STIM1 deficiency


obesity due to congenital leptin deficiency


neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset


TNF receptor 1-associated periodic fever syndrome


short stature-pituitary and cerebellar defects-small sella turcica syndrome


menstrual cycle-dependent periodic fever


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


thrombophilia due to activated protein C resistance


agammaglobulinemia 7, autosomal recessive


amyotrophic lateral sclerosis type 2, juvenile


anemia, nonspherocytic hemolytic, due to G6PD deficiency


congenital nonspherocytic hemolytic anemia


susceptibility to angioedema induced by ACE inhibitors


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis


arrhythmogenic right ventricular dysplasia 8


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


brain small vessel disease 1 with or without ocular anomalies


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


Charcot-Marie-Tooth disease dominant intermediate E


progressive familial intrahepatic cholestasis type 1


progressive familial intrahepatic cholestasis type 3


chromosome 15q13.3 microdeletion syndrome


chronic atrial and intestinal dysrhythmia


recurrent Neisseria infections due to factor D deficiency


congenital heart defects, multiple types, 2


congenital heart defects, multiple types, 6


complex cortical dysplasia with other brain malformations 5


Crouzon syndrome-acanthosis nigricans syndrome


autosomal dominant nonsyndromic hearing loss 23


autosomal dominant nonsyndromic hearing loss 40


autosomal dominant nonsyndromic hearing loss 68


autosomal dominant nonsyndromic hearing loss 70


developmental and epileptic encephalopathy, 26


developmental and epileptic encephalopathy, 50


developmental and epileptic encephalopathy, 52


autosomal recessive Parkinson disease 14


lethal acantholytic epidermolysis bullosa


junctional epidermolysis bullosa with pyloric atresia


metabolic myopathy due to lactate transporter defect


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


low phospholipid associated cholelithiasis


generalized epilepsy with febrile seizures plus, type 1


Charcot-Marie-Tooth disease axonal type 2C


infantile-onset ascending hereditary spastic paralysis


periventricular heterotopia with microcephaly, autosomal recessive


Hirschsprung disease, cardiac defects, and autonomic dysfunction


hyperinsulinism due to glucokinase deficiency


cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


autosomal recessive congenital ichthyosis 10


monocytopenia with susceptibility to infections


immunodeficiency-centromeric instability-facial anomalies syndrome 1


growth delay due to insulin-like growth factor I resistance


intellectual disability, autosomal recessive 51


syndromic X-linked intellectual disability Nascimento type


obesity due to leptin receptor gene deficiency


lethal congenital contracture syndrome 11


leukoencephalopathy with mild cerebellar ataxia and white matter edema


hypotonia-failure to thrive-microcephaly syndrome


autosomal recessive limb-girdle muscular dystrophy type 2B


mature T-cell and NK-cell non-Hodgkin lymphoma


maturity-onset diabetes of the young type 14


maturity-onset diabetes of the young type 2


homocystinuria due to methylene tetrahydrofolate reductase deficiency


microcephaly 13, primary, autosomal recessive


microcephaly 2, primary, autosomal recessive, with or without cortical malformations


microcephaly 5, primary, autosomal recessive


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


mitochondrial complex III deficiency nuclear type 1


ketoacidosis due to monocarboxylate transporter-1 deficiency


multicentric carpo-tarsal osteolysis with or without nephropathy


congenital merosin-deficient muscular dystrophy 1A


autosomal recessive limb-girdle muscular dystrophy type 2G


myoglobinuria, acute recurrent, autosomal recessive


distal myopathy with anterior tibial onset


myopathy, reducing body, X-linked, childhood-onset


myopathy, reducing body, X-linked, early-onset, severe


epidermolysis bullosa simplex 7, with nephropathy and deafness


neurodegeneration with brain iron accumulation 5


neurodegeneration with brain iron accumulation


peripheral primitive neuroectodermal tumor


neuronopathy, distal hereditary motor, type 5


intellectual disability-sparse hair-brachydactyly syndrome


congenital stationary night blindness autosomal dominant 3


peroxisome biogenesis disorder 7A (Zellweger)


pigmented nodular adrenocortical disease, primary, 3


progressive supranuclear palsy-parkinsonism syndrome


combined immunodeficiency with faciooculoskeletal anomalies


X-linked scapuloperoneal muscular dystrophy


scapuloperoneal spinal muscular atrophy, autosomal dominant


neuronopathy, distal hereditary motor, autosomal dominant 8


spondyloepimetaphyseal dysplasia, Maroteaux type


spondylometaphyseal dysplasia, Kozlowski type


striatal degeneration, autosomal dominant


thiamine-responsive megaloblastic anemia syndrome


Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant


Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive


X-linked Emery-Dreifuss muscular dystrophy


infantile-onset X-linked spinal muscular atrophy


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


craniofacial anomalies and anterior segment dysgenesis syndrome


heterotopia, periventricular, X-linked dominant


microphthalmia, isolated, with coloboma 10


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency


autosomal dominant limb-girdle muscular dystrophy type 1F


syndromic X-linked intellectual disability Shashi type


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


progressive retinal dystrophy due to retinol transport defect


persistent hyperplastic primary vitreous, autosomal recessive


terminal osseous dysplasia-pigmentary defects syndrome


severe X-linked intellectual disability, Gustavson type


1alpha,25-dihydroxy-19-norvitamin d3 / 1alpha,25-dihydroxy-19-norcholecalciferol


autosomal dominant hypophosphatemic rickets


microcephaly 12, primary, autosomal recessive


Decreased circulating vitamin B1 concentration


basal ganglia calcification, idiopathic, 5


isolated growth hormone deficiency type IB


isolated growth hormone deficiency type II


short stature due to growth hormone qualitative anomaly


severe intellectual disability-progressive spastic diplegia syndrome


autosomal recessive spastic paraplegia type 76


1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester


aniridia-cerebellar ataxia-intellectual disability syndrome


Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;


benign recurrent intrahepatic cholestasis type 2


Spondyloenchondrodysplasia with immune dysregulation


craniometaphyseal dysplasia, autosomal recessive


developmental and epileptic encephalopathy, 11


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


hypogonadotropic hypogonadism 24 without anosmia


fragile X-associated tremor/ataxia syndrome


leukoencephalopathy, diffuse hereditary, with spheroids 1


hereditary motor and sensory neuropathy type 6


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly


MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C


neutropenia, severe congenital, 1, autosomal dominant


oculodentodigital dysplasia, autosomal recessive


short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans


spondyloepimetaphyseal dysplasia, aggrecan type


spondyloepiphyseal dysplasia, Kimberley type


autosomal dominant nocturnal frontal lobe epilepsy 3


X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency


granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8


congenital diarrhea 5 with tufting enteropathy


Lynch syndrome I (site-specific colonic cancer)


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


autosomal dominant nonsyndromic hearing loss 3A


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


T-cell large granular lymphocyte leukemia


neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities


Parkinson disease 5, autosomal dominant, susceptibility to


platelet-activating factor acetylhydrolase deficiency


X-linked mixed hearing loss with perilymphatic gusher


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD


congenital heart defects and ectodermal dysplasia


chorea, childhood-onset, with psychomotor retardation


Ehlers-Danlos syndrome, cardiac valvular type


paroxysmal familial ventricular fibrillation


progressive familial heart block, type 1A


fatal infantile hypertonic myofibrillar myopathy


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


Alcohol-Induced Disorders, Nervous System


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


Cerebellar Ataxia, Deafness, and Narcolepsy


Charcot-Marie-Tooth Disease, axonal, type 2GG


DPAGT1-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 26


autosomal recessive nonsyndromic hearing loss 32


ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder


familial hyperthyroidism due to mutations in TSH receptor


hypothyroidism due to TSH receptor mutations


combined immunodeficiency due to CD3gamma deficiency


intellectual disability, autosomal recessive 54


multiple congenital anomalies-hypotonia-seizures syndrome 2


congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2


autosomal recessive limb-girdle muscular dystrophy type 2N


hereditary sensory neuropathy-deafness-dementia syndrome


early-onset parkinsonism-intellectual disability syndrome


peroxisome biogenesis disorder 10A (Zellweger)


porokeratosis 8, disseminated superficial actinic type


spinal muscular atrophy with congenital bone fractures 1


thyroid hormone resistance, generalized, autosomal dominant


thyroid hormone resistance, generalized, autosomal recessive


selective pituitary resistance to thyroid hormone


muscular dystrophy-dystroglycanopathy, type A


pancreatic triacylglycerol lipase deficiency


microvascular complications of diabetes, susceptibility to, 2


Microcephaly with Chorioretinopathy, Autosomal Recessive


microvascular complications of diabetes, susceptibility to, 5


arrhythmogenic right ventricular dysplasia 12


glycogen storage disease due to muscle beta-enolase deficiency


progressive encephalopathy with leukodystrophy due to DECR deficiency


3-methylcrotonyl-CoA carboxylase 1 deficiency


3-methylcrotonyl-CoA carboxylase 2 deficiency


acromesomelic dysplasia 1, Maroteaux type


adducted thumbs-arthrogryposis syndrome, Christian type


alacrima, achalasia, and intellectual disability syndrome


microcephalic primordial dwarfism, Alazami type


alveolar capillary dysplasia with misalignment of pulmonary veins


amyotrophic lateral sclerosis-parkinsonism-dementia complex


glutathione synthetase deficiency without 5-oxoprolinuria


anemia, hypochromic microcytic with iron overload


X-linked sideroblastic anemia with ataxia


arhinia, choanal atresia, and microphthalmia


aromatic L-amino acid decarboxylase deficiency


arrhythmogenic right ventricular dysplasia 1


arrhythmogenic right ventricular dysplasia 10


arrhythmogenic right ventricular dysplasia 5


arrhythmogenic right ventricular dysplasia 9


autism spectrum disorder - epilepsy - arthrogryposis syndrome


arthrogryposis multiplex congenita 1, neurogenic, with myelin defect


arthrogryposis, Perthes disease, and upward gaze palsy


asthma, nasal polyps, and aspirin intolerance


asthma-related traits, susceptibility to, 7


familial isolated deficiency of vitamin E


atrioventricular septal defect, susceptibility to, 2


autoimmune disease, multisystem, infantile-onset, 2


syndromic multisystem autoimmune disease due to ITCH deficiency


autoimmune disorder of the nervous system


autoimmune interstitial lung disease-arthritis syndrome


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


periodic fever-infantile enterocolitis-autoinflammatory syndrome


autoinflammatory syndrome, familial, Behcet-like 1


basal ganglia calcification, idiopathic, 6


congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


blepharophimosis - intellectual disability syndrome, Ohdo type


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18


brain malformations with or without urinary tract defects


branched-chain keto acid dehydrogenase kinase deficiency


breast-ovarian cancer, familial, susceptibility to, 4


breasts and/or nipples, aplasia or hypoplasia of, 2


bronchiectasis with or without elevated sweat chloride 2


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


hereditary arterial and articular multiple calcification syndrome


capillary malformation-arteriovenous malformation syndrome


carbamoyl phosphate synthetase I deficiency disease


cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1


carnitine palmitoyl transferase 1A deficiency


carnitine palmitoyl transferase II deficiency, severe infantile form


carnitine palmitoyl transferase II deficiency, myopathic form


carnitine palmitoyl transferase II deficiency, neonatal form


susceptibility to respiratory infections associated with CD8alpha chain mutation


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2


cerebellar atrophy, visual impairment, and psychomotor retardation;


Charcot-Marie-Tooth disease axonal type 2L


Charcot-Marie-Tooth disease axonal type 2N


Charcot-Marie-Tooth disease axonal type 2O


Charcot-Marie-Tooth disease axonal type 2P


Charcot-Marie-Tooth disease axonal type 2Q


Charcot-Marie-Tooth disease axonal type 2T


Charcot-Marie-Tooth disease axonal type 2V


autosomal dominant Charcot-Marie-Tooth disease type 2W


Charcot-Marie-Tooth disease axonal type 2X


Charcot-Marie-Tooth disease dominant intermediate B


Charcot-Marie-Tooth disease recessive intermediate B


Charcot-Marie-Tooth disease axonal type 2K


Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


Charcot-Marie-Tooth disease X-linked dominant 1


lymphedema-posterior choanal atresia syndrome


cholestasis, progressive familial intrahepatic, 5


chondrodysplasia with joint dislocations, gPAPP type


sterile multifocal osteomyelitis with periostitis and pustulosis


encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome


familial steroid-resistant nephrotic syndrome with sensorineural deafness


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


uveal coloboma-cleft lip and palate-intellectual disability


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6


Colorectal Cancer, Hereditary Nonpolyposis, Type 7


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


combined oxidative phosphorylation defect type 11


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


combined oxidative phosphorylation defect type 13


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


combined oxidative phosphorylation defect type 17


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome


combined oxidative phosphorylation deficiency 19


combined oxidative phosphorylation defect type 2


combined oxidative phosphorylation defect type 20


combined oxidative phosphorylation defect type 21


combined oxidative phosphorylation deficiency 22


combined oxidative phosphorylation defect type 23


combined oxidative phosphorylation defect type 24


combined oxidative phosphorylation defect type 27


combined oxidative phosphorylation deficiency 28


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


combined oxidative phosphorylation defect type 30


hypotonia with lactic acidemia and hyperammonemia


combined oxidative phosphorylation defect type 8


combined oxidative phosphorylation defect type 9


Congenital Bone Marrow Failure Syndromes


congenital cataracts-facial dysmorphism-neuropathy syndrome


congenital secretory chloride diarrhea 1


congenital disorder of deglycosylation 1


ALG6-congenital disorder of glycosylation 1C


congenital disorder of glycosylation type 1E


MPDU1-congenital disorder of glycosylation


ALG12-congenital disorder of glycosylation


ALG8-congenital disorder of glycosylation


ALG1-congenital disorder of glycosylation


ALG9-congenital disorder of glycosylation


B4GALT1-congenital disorder of glycosylation


COG7-congenital disorder of glycosylation


congenital disorder of glycosylation, type IAA


MOGS-congenital disorder of glycosylation


SLC35A1-congenital disorder of glycosylation


COG8-congenital disorder of glycosylation


COG4-congenital disorder of glycosylation


TMEM165-congenital disorder of glycosylation


COG6-congenital disorder of glycosylation


SLC35A2-congenital disorder of glycosylation


DK1-congenital disorder of glycosylation


DPM3-congenital disorder of glycosylation


ALG11-congenital disorder of glycosylation


DDOST-congenital disorder of glycosylation


congenital muscular dystrophy with intellectual disability and severe epilepsy


STT3A-congenital disorder of glycosylation


STT3B-congenital disorder of glycosylation


SSR4-congenital disorder of glycosylation


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


congenital heart defects, multiple types, 4


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome


posterior polymorphous corneal dystrophy 1


posterior polymorphous corneal dystrophy 3


coronary artery disease, autosomal dominant, 1


coronary artery disease, autosomal dominant 2


agenesis of the corpus callosum with peripheral neuropathy


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome


X-linked complicated corpus callosum dysgenesis


intellectual disability, autosomal dominant 13


complex cortical dysplasia with other brain malformations 2


complex cortical dysplasia with other brain malformations 4


complex cortical dysplasia with other brain malformations 7


craniodiaphyseal dysplasia, autosomal dominant


CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL


cutis laxa, autosomal recessive, type 1B


autosomal recessive cutis laxa type 2, classic type


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies


mitochondrial complex IV deficiency, nuclear-type


autosomal dominant nonsyndromic hearing loss 1


autosomal dominant nonsyndromic hearing loss 11


autosomal dominant nonsyndromic hearing loss 13


autosomal dominant nonsyndromic hearing loss 20


autosomal dominant nonsyndromic hearing loss 22


autosomal dominant nonsyndromic hearing loss 27


autosomal dominant nonsyndromic hearing loss 28


autosomal dominant nonsyndromic hearing loss 41


autosomal dominant nonsyndromic hearing loss 44


autosomal dominant nonsyndromic hearing loss 48


autosomal dominant nonsyndromic hearing loss 5


autosomal dominant nonsyndromic hearing loss 56


autosomal dominant nonsyndromic hearing loss 6


autosomal dominant nonsyndromic hearing loss 66


autosomal dominant nonsyndromic hearing loss 67


Deafness, autosomal dominant nonsyndromic sensorineural 17


autosomal recessive nonsyndromic hearing loss 102


autosomal recessive nonsyndromic hearing loss 103


autosomal recessive nonsyndromic hearing loss 18A


autosomal recessive nonsyndromic hearing loss 18B


autosomal recessive nonsyndromic hearing loss 2


autosomal recessive nonsyndromic hearing loss 24


DEAFNESS, AUTOSOMAL RECESSIVE 26, MODIFIER OF


autosomal recessive nonsyndromic hearing loss 28


autosomal recessive nonsyndromic hearing loss 37


autosomal recessive nonsyndromic hearing loss 42


autosomal recessive nonsyndromic hearing loss 49


autosomal recessive nonsyndromic hearing loss 53


autosomal recessive nonsyndromic hearing loss 70


autosomal recessive nonsyndromic hearing loss 79


autosomal recessive nonsyndromic hearing loss 89


autosomal dominant deafness - onychodystrophy syndrome


Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema


mitochondrial DNA depletion syndrome, hepatocerebral form


DeSanto-Shinawi syndrome due to WAC point mutation


developmental and epileptic encephalopathy, 17


developmental and epileptic encephalopathy, 21


developmental and epileptic encephalopathy, 23


developmental and epileptic encephalopathy, 25


developmental and epileptic encephalopathy, 28


developmental and epileptic encephalopathy, 29


developmental and epileptic encephalopathy, 31A


developmental and epileptic encephalopathy, 34


developmental and epileptic encephalopathy, 36


developmental and epileptic encephalopathy, 44


developmental and epileptic encephalopathy, 48


developmental and epileptic encephalopathy, 49


developmental and epileptic encephalopathy, 51


developmental and epileptic encephalopathy, 53


developmental and epileptic encephalopathy, 54


diabetes mellitus, noninsulin-dependent, 1


diabetes mellitus, transient neonatal, 1


diabetes mellitus, transient neonatal, 2


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis


diaphyseal medullary stenosis-bone malignancy syndrome


dyschromatosis universalis hereditaria 1


dyschromatosis universalis hereditaria 3


cerebellar ataxia, intellectual disability, and dysequilibrium


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT


DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2


Dyskeratosis Congenita, Autosomal Dominant 3


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7


Dyskeratosis Congenita, Autosomal Recessive


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2


Dyskeratosis Congenita, Autosomal Recessive 3


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5


DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6


dyskinesia with orofacial involvement, autosomal dominant


Silverman-Handmaker type dyssegmental dysplasia


dopa-responsive dystonia due to sepiapterin reductase deficiency


early-onset generalized limb-onset dystonia


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


autosomal recessive hypohidrotic ectodermal dysplasia


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


epidermolysis bullosa simplex due to plakophilin deficiency


ectopia lentis 2, isolated, autosomal recessive


facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome


Ehlers-Danlos syndrome due to tenascin-X deficiency


Ehlers-Danlos syndrome, kyphoscoliotic type, 2


Ehlers-Danlos syndrome, musculocontractural type


Ehlers-Danlos syndrome, periodontal type 2


familial acute necrotizing encephalopathy


encephalopathy, acute, infection-induced, susceptibility to, 4


encephalopathy due to defective mitochondrial and peroxisomal fission 2


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1


severe neurodegenerative syndrome with lipodystrophy


epidermolysis bullosa simplex 5B, with muscular dystrophy


generalized dominant dystrophic epidermolysis bullosa


epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome


pretibial dystrophic epidermolysis bullosa


dystrophic epidermolysis bullosa pruriginosa


epidermolysis bullosa simplex with nail dystrophy


epidermolysis bullosa simplex 6, generalized, with scarring and hair loss


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive


epidermolysis bullosa simplex 5A, Ogna type


epidermolysis bullosa simplex 5C, with pyloric atresia


epidermolysis bullosa with congenital localized absence of skin and deformity of nails


developmental and epileptic encephalopathy, 9


familial focal epilepsy with variable foci


developmental and epileptic encephalopathy, 3


tall stature-scoliosis-macrodactyly of the great toes syndrome


hemolytic anemia due to diphosphoglycerate mutase deficiency


facioscapulohumeral muscular dystrophy 1


facioscapulohumeral muscular dystrophy 2


factor V and factor VIII, combined deficiency of, type 1


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


fibrosis of extraocular muscles, congenital, 2


fibrosis of extraocular muscles, congenital, 3b


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


frontotemporal dementia and/or amyotrophic lateral sclerosis 2


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


frontotemporal dementia and/or amyotrophic lateral sclerosis 7


frontotemporal dementia with motor neuron disease


gastroenteritis, transmissible, of swine


Gaucher disease due to saposin C deficiency


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome


glaucoma, normal tension, susceptibility to


inherited glutathione synthetase deficiency


glycogen storage disease due to muscle and heart glycogen synthase deficiency


lethal congenital glycogen storage disease of heart


glycogen storage disease due to glycogen branching enzyme deficiency


PGM1-congenital disorder of glycosylation


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1


growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy


hearing loss, cisplatin-induced, susceptibility to


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


familial hemophagocytic lymphohistiocytosis 2


familial hemophagocytic lymphohistiocytosis 3


familial hemophagocytic lymphohistiocytosis 4


familial hemophagocytic lymphohistiocytosis 5


hepatic veno-occlusive disease-immunodeficiency syndrome


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


myopathy, myofibrillar, 9, with early respiratory failure


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


encephalopathy due to hydroxykynureninuria


hypercholesterolemia, autosomal dominant, 3


hyperinsulinemic hypoglycemia, familial, 4


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


hyperphenylalaninemia due to DNAJC12 deficiency


hyperphosphatasia with intellectual disability syndrome 3


transient infantile hypertriglyceridemia and hepatosteatosis


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


isolated growth hormone deficiency type III


hypogonadotropic hypogonadism 17 with or without anosmia


hypogonadotropic hypogonadism 18 with or without anosmia


hypogonadotropic hypogonadism 19 with or without anosmia


hypogonadotropic hypogonadism 21 with or without anosmia


hypogonadotropic hypogonadism 22 with or without anosmia


hypogonadotropic hypogonadism 9 with or without anosmia


hypoinsulinemic hypoglycemia and body hemihypertrophy


developmental and epileptic encephalopathy, 39


hypophosphatemic rickets, autosomal recessive, 2


congenital hypothalamic hamartoma syndrome


severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome


hypotonia, infantile, with psychomotor retardation and characteristic facies 3


ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1


autosomal recessive congenital ichthyosis 6


congenital reticular ichthyosiform erythroderma


autosomal recessive congenital ichthyosis 11


combined immunodeficiency due to STK4 deficiency


severe combined immunodeficiency due to CARD11 deficiency


combined immunodeficiency due to MALT1 deficiency


combined immunodeficiency due to OX40 deficiency


severe combined immunodeficiency due to CTPS1 deficiency


severe combined immunodeficiency due to DNA-PKcs deficiency


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection


combined immunodeficiency due to ZAP70 deficiency


combined immunodeficiency due to moesin deficiency


primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency


severe combined immunodeficiency due to CORO1A deficiency


immunodeficiency-centromeric instability-facial anomalies syndrome 2


immunodeficiency-centromeric instability-facial anomalies syndrome 3


IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY


primary immunodeficiency syndrome due to p14 deficiency


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


immunoskeletal dysplasia with neurodevelopmental abnormalities


cardiac anomalies - developmental delay - facial dysmorphism syndrome


intellectual disability, anterior maxillary protrusion, and strabismus


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1


inflammatory skin and bowel disease, neonatal, 1


intellectual disability, autosomal dominant 10


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


intellectual disability, autosomal dominant 22


intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


autism spectrum disorder due to AUTS2 deficiency


intellectual disability, autosomal dominant 30


intellectual disability, autosomal dominant 33


intellectual disability, autosomal dominant 42


micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


DYRK1A-related intellectual disability syndrome


intellectual disability, autosomal recessive 14


intellectual disability, autosomal recessive 18


intellectual disability, autosomal recessive 27


intellectual disability, autosomal recessive 34


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


developmental delay with autism spectrum disorder and gait instability


severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


intellectual disability, autosomal recessive 44


intellectual disability, autosomal recessive 45


intellectual disability, autosomal recessive 46


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


intellectual disability, autosomal recessive 50


intellectual disability, autosomal recessive 56


intellectual disability, autosomal recessive 57


intellectual disability, autosomal recessive 58


intellectual disability, autosomal recessive 59


intellectual disability, autosomal recessive 60


intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies


intellectual disability, X-linked 99, syndromic, female-restricted


syndromic X-linked intellectual disability 34


intellectual disability, X-linked, syndromic, Bain type


X-linked intellectual disability, Cabezas type


syndromic X-linked intellectual disability Raymond type


intellectual developmental disorder with gastrointestinal difficulties and high pain threshold


metaphyseal chondrodysplasia, Jansen type


congenital hypotrichosis with juvenile macular dystrophy


Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia


oculocerebrofacial syndrome, Kaufman type


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


punctate palmoplantar keratoderma type 1


palmoplantar keratoderma-esophageal carcinoma syndrome


Klippel-Feil syndrome 3, autosomal dominant


Klippel-Feil syndrome 2, autosomal recessive


Krabbe disease due to saposin A deficiency


Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


lethal arthrogryposis-anterior horn cell disease syndrome


lethal congenital contracture syndrome 1


lethal congenital contracture syndrome 2


fetal akinesia-cerebral and retinal hemorrhage syndrome


lethal congenital contracture syndrome 9


leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism


leukoencephalopathy, progressive, with ovarian failure


autosomal dominant limb-girdle muscular dystrophy type 1G


autosomal recessive limb-girdle muscular dystrophy type 2H


linear skin defects with multiple congenital anomalies 2


linear skin defects with multiple congenital anomalies 3


congenital generalized lipodystrophy type 4


lissencephaly 7 with cerebellar hypoplasia


X-linked lissencephaly with abnormal genitalia


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


X-linked intellectual disability with marfanoid habitus


Hereditary Non-Polyposis Colon Cancer Type 2


multiple epiphyseal dysplasia, Al-Gazali type


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


macular dystrophy with central cone involvement


malignant hyperthermia, susceptibility to, 5


mandibuloacral dysplasia with type B lipodystrophy


mandibulofacial dysostosis with alopecia


maturity-onset diabetes of the young type 1


maturity-onset diabetes of the young type 3


maturity-onset diabetes of the young type 4


maturity-onset diabetes of the young type 7


maturity-onset diabetes of the young type 9


medium chain acyl-CoA dehydrogenase deficiency


megalencephalic leukoencephalopathy with subcortical cysts


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


melanoma and neural system tumor syndrome


syndromic X-linked intellectual disability Najm type


intellectual disability, autosomal recessive 1


intellectual disability, autosomal recessive 12


intellectual disability, autosomal recessive 2


intellectual disability, autosomal recessive 3


intellectual disability, autosomal recessive 7


intellectual disability-hypotonic facies syndrome, X-linked, 1


methylmalonic acidemia with homocystinuria, type cblX


syndromic X-linked intellectual disability 14


syndromic X-linked intellectual disability Claes-Jensen type


X-linked intellectual disability-cerebellar hypoplasia syndrome


syndromic X-linked intellectual disability Hedera type


intellectual disability, X-linked, with or without seizures, ARX-related


metachromatic leukodystrophy due to saposin B deficiency


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


metaphyseal dysplasia without hypotrichosis


methylmalonate semialdehyde dehydrogenase deficiency


methylmalonic aciduria and homocystinuria type cblD


methylmalonic aciduria and homocystinuria type cblF


methylmalonic acidemia with homocystinuria, type cblJ


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency


methylmalonic acidemia due to transcobalamin receptor defect


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


microcephalic osteodysplastic primordial dwarfism type II


microcephaly 11, primary, autosomal recessive


microcephaly 14, primary, autosomal recessive


microcephaly 16, primary, autosomal recessive


microcephaly 17, primary, autosomal recessive


microcephaly 8, primary, autosomal recessive


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


microcephaly, epilepsy, and diabetes syndrome 1


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly


microcephaly 6, primary, autosomal recessive


microcephaly, seizures, and developmental delay


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


microphthalmia, isolated, with coloboma 7


microphthalmia, isolated, with coloboma 9


colobomatous microphthalmia-rhizomelic dysplasia syndrome


microphthalmia with brain and digit anomalies


microvascular complications of diabetes, susceptibility to, 4


hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome


mitochondrial complex II deficiency, nuclear type 1


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1


mitochondrial complex V (ATP synthase) deficiency nuclear type 2


mitochondrial complex V (ATP synthase) deficiency nuclear type 3


mitochondrial complex V (ATP synthase) deficiency nuclear type 4B


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)


mitochondrial DNA depletion syndrome 15 (hepatocerebral type)


mitochondrial DNA depletion syndrome, myopathic form


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)


mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


mitochondrial myopathy-lactic acidosis-deafness syndrome


mitochondrial pyruvate carrier deficiency


sulfite oxidase deficiency due to molybdenum cofactor deficiency


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


susceptibility to mononeuropathy of the median nerve, mild


multiple acyl-CoA dehydrogenase deficiency


multiple congenital anomalies-hypotonia-seizures syndrome 1


multiple congenital anomalies-hypotonia-seizures syndrome 3


fatal multiple mitochondrial dysfunctions syndrome


multiple mitochondrial dysfunctions syndrome 2


autosomal recessive limb-girdle muscular dystrophy type 2W


congenital muscular dystrophy due to integrin alpha-7 deficiency


congenital muscular dystrophy due to LMNA mutation


congenital muscular dystrophy with cataracts and intellectual disability


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


muscular dystrophy-dystroglycanopathy type B5


autosomal recessive limb-girdle muscular dystrophy type 2K


autosomal recessive limb-girdle muscular dystrophy type 2T


autosomal recessive limb-girdle muscular dystrophy type 2O


autosomal recessive limb-girdle muscular dystrophy type 2I


autosomal recessive limb-girdle muscular dystrophy type 2P


autosomal recessive limb-girdle muscular dystrophy type 2Q


autosomal recessive limb-girdle muscular dystrophy type 2R1


autosomal recessive limb-girdle muscular dystrophy type 2X


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


autosomal recessive limb-girdle muscular dystrophy type 2J


Myasthenic Syndrome, Congenital, Fast-Channel


Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency


pyogenic bacterial infections due to MyD88 deficiency


MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO


autosomal recessive limb-girdle muscular dystrophy type 2Y


Finnish upper limb-onset distal myopathy


distal myopathy with posterior leg and anterior hand involvement


early-onset myopathy with fatal cardiomyopathy


autosomal dominant mitochondrial myopathy with exercise intolerance


congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


proximal myopathy with extrapyramidal signs


myopathy, lactic acidosis, and sideroblastic anemia


hereditary myopathy with lactic acidosis due to ISCU deficiency


X-linked myopathy with excessive autophagy


hyperammonemia due to N-acetylglutamate synthase deficiency


methemoglobinemia due to deficiency of methemoglobin reductase


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


congenital myopathy 4B, autosomal recessive


neonatal intrahepatic cholestasis due to citrin deficiency


nephrogenic syndrome of inappropriate antidiuresis


nephrolithiasis, X-linked recessive, with renal failure


LAMB2-related infantile-onset nephrotic syndrome


neurodegenerative syndrome due to cerebral folate transport deficiency


neurodegeneration with brain iron accumulation 2A


intellectual disability, autosomal recessive 42


neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination


microcephaly-thin corpus callosum-intellectual disability syndrome


microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome


intellectual disability, autosomal dominant 40


intellectual disability, autosomal dominant 34


intellectual disability, autosomal dominant 20


severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation


microcephaly 15, primary, autosomal recessive


glutamate pyruvate transaminase 2 deficiency


neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1


visceral neuropathy, familial, 1, autosomal recessive


neuronopathy, distal hereditary motor, type 2D


neuronopathy, distal hereditary motor, autosomal recessive 5


neuronopathy, distal hereditary motor, type 7B


neuronopathy, distal hereditary motor, type 2A


hereditary motor and sensory neuropathy, Okinawa type


neuropathy, hereditary motor and sensory, type 6B


neuropathy, hereditary sensory and autonomic, type 1A


neuropathy, hereditary sensory and autonomic, type 1C


neuropathy, hereditary sensory and autonomic, type 2A


hereditary sensory and autonomic neuropathy type 6


hereditary sensory and autonomic neuropathy with spastic paraplegia


nonimmune chronic idiopathic neutropenia of adults


autosomal recessive severe congenital neutropenia due to JAGN1 deficiency


neutropenia, severe congenital, 2, autosomal dominant


Neutropenia, Severe Congenital, Autosomal Recessive 3


mixed epithelioid and spindle cell melanoma


Nijmegen breakage syndrome-like disorder


Noonan syndrome-like disorder with loose anagen hair 1


obesity, hyperphagia, and developmental delay


foveal hypoplasia-presenile cataract syndrome


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


Charcot-Marie-Tooth disease X-linked recessive 5


telangiectasia, hereditary hemorrhagic, type 2


osteopathia striata with cranial sclerosis


otospondylomegaepiphyseal dysplasia, autosomal recessive


46,XX ovarian dysgenesis-short stature syndrome


wooly hair-palmoplantar keratoderma syndrome


isolated focal non-epidermolytic palmoplantar keratoderma


Parkinson disease 11, autosomal dominant, susceptibility to


Parkinson disease 13, autosomal dominant, susceptibility to


Parkinson disease 18, autosomal dominant, susceptibility to


Parkinson disease 22, autosomal dominant


autosomal recessive early-onset Parkinson disease 7


patterned dystrophy of the retinal pigment epithelium


combined oxidative phosphorylation defect type 26


peroxisome biogenesis disorder 11A (Zellweger)


peroxisome biogenesis disorder 12A (Zellweger)


peroxisome biogenesis disorder 2A (Zellweger)


peroxisome biogenesis disorder 3A (Zellweger)


peroxisome biogenesis disorder 4A (Zellweger)


peroxisome biogenesis disorder 5A (Zellweger)


peroxisome biogenesis disorder 6A (Zellweger)


peroxisome biogenesis disorder 8A (Zellweger)


pigmented nodular adrenocortical disease, primary, 1


pituitary hormone deficiency, combined, 2


Platelet Disorder, Familial, with Associated Myeloid Malignancy


autosomal dominant polycystic liver disease


polyhydramnios, megalencephaly, and symptomatic epilepsy


bilateral parasagittal parieto-occipital polymicrogyria


catecholaminergic polymorphic ventricular tachycardia


porokeratosis 3, disseminated superficial actinic type


porphyria due to ALA dehydratase deficiency


pregnancy loss, recurrent, susceptibility to, 3


preterm premature rupture of the membranes


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4


mitochondrial DNA deletion syndrome with progressive myopathy


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4


progressive familial heart block type IB


obesity due to prohormone convertase I deficiency


autosomal recessive inherited pseudoxanthoma elasticum


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4


pulmonary hypertension, neonatal, susceptibility to


purine nucleoside phosphorylase deficiency


inborn disorder of purine or pyrimidine metabolism


pyruvate dehydrogenase E1-beta deficiency


pyruvate dehydrogenase E3-binding protein deficiency


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


Rajab interstitial lung disease with brain calcifications 1


autosomal recessive proximal renal tubular acidosis


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies


retinitis pigmentosa with or without situs inversus


Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness


rhizomelic chondrodysplasia punctata type 1


rhizomelic chondrodysplasia punctata type 2


rhizomelic chondrodysplasia punctata type 5


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


familial scaphocephaly syndrome, McGillivray type


neurogenic scapuloperoneal syndrome, Kaeser type


scoliosis, isolated, susceptibility to, 1


progressive microcephaly-seizures-cortical blindness-developmental delay syndrome


T-B+ severe combined immunodeficiency due to JAK3 deficiency


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


severe combined immunodeficiency due to DCLRE1C deficiency


short chain acyl-CoA dehydrogenase deficiency


short stature due to partial GHR deficiency


sick sinus syndrome 2, autosomal dominant


syndromic X-linked intellectual disability Siderius type


X-linked distal spinal muscular atrophy type 3


lower motor neuron syndrome with late-adult onset


adult-onset proximal spinal muscular atrophy, autosomal dominant


spinal muscular atrophy with congenital bone fractures 2


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


autosomal recessive spinocerebellar ataxia 2


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome


autosomal recessive spinocerebellar ataxia 7


Ehlers-Danlos syndrome, spondylocheirodysplastic type


autosomal recessive spondylocostal dysostosis


spondyloepimetaphyseal dysplasia, Genevieve type


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


spongiform encephalopathy with neuropsychiatric features


subcutaneous panniculitis-like T-cell lymphoma


succinic semialdehyde dehydrogenase deficiency


sudden infant death-dysgenesis of the testes syndrome


interstitial lung disease due to ABCA3 deficiency


surfactant metabolism dysfunction, pulmonary, 4


surfactant metabolism dysfunction, pulmonary, 5


systemic primary carnitine deficiency disease


tall stature-intellectual disability-renal anomalies syndrome


progressive demyelinating neuropathy with bilateral striatal necrosis


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


thrombophilia, X-linked, due to factor 9 defect


thyrotoxic periodic paralysis, susceptibility to, 1


syndactyly-telecanthus-anogenital and renal malformations syndrome


hereditary neuropathy with liability to pressure palsies


transient bullous dermolysis of the newborn


mitochondrial trifunctional protein deficiency


familial juvenile hyperuricemic nephropathy type 1


hyperuricemic nephropathy, familial juvenile type 4


familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


primary intraosseous venous malformation


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


catecholaminergic polymorphic ventricular tachycardia 1


VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1


Decreased circulating vitamin E concentration


vitamin K-dependent clotting factors, combined deficiency of, type 2


very long chain acyl-CoA dehydrogenase deficiency


intellectual disability, autosomal dominant 24


Cafe-au-lait macules with pulmonary stenosis


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


T-B+ severe combined immunodeficiency due to gamma chain deficiency


blepharophimosis - intellectual disability syndrome, SBBYS type


cleft lip/palate-ectodermal dysplasia syndrome


autosomal recessive nonsyndromic hearing loss 9


short stature due to primary acid-labile subunit deficiency


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


combined oxidative phosphorylation deficiency 29


cutis laxa, autosomal recessive, type 1A


autosomal recessive nonsyndromic hearing loss 39


hearing loss, sensorineural, autosomal-mitochondrial type


developmental and epileptic encephalopathy, 12


developmental and epileptic encephalopathy, 5


glycogen storage disorder due to hepatic glycogen synthase deficiency


hyperlipidemia due to hepatic triglyceride lipase deficiency


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12


hypomyelination with brain stem and spinal cord involvement and leg spasticity


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


distal myopathy with vocal cord weakness


palmoplantar keratoderma, nonepidermolytic, focal 1


constitutional megaloblastic anemia with severe neurologic disease


Bietti crystalline corneoretinal dystrophy


familial episodic pain syndrome with predominantly upper body involvement


autosomal dominant nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 44


developmental and epileptic encephalopathy, 30


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5


autosomal dominant slowed nerve conduction velocity


asthma-related traits, susceptibility to, 1


autosomal dominant nocturnal frontal lobe epilepsy 1


1-(3-(2-(1-benzothiophen-5-yl) ethoxy) propyl)-3-azetidinol maleate


hypogonadotropic hypogonadism 13 with or without anosmia


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


type I complement component 8 deficiency


type II complement component 8 deficiency


hereditary thrombophilia due to congenital protein C deficiency


autosomal recessive nonsyndromic hearing loss 15


autosomal recessive nonsyndromic hearing loss 31


developmental and epileptic encephalopathy, 41


generalized epilepsy-paroxysmal dyskinesia syndrome


cryptosporidiosis-chronic cholangitis-liver disease syndrome


leukodystrophy and acquired microcephaly with or without dystonia;


maturity-onset diabetes of the young type 11


intellectual disability, autosomal dominant 5


neurodevelopmental disorder with hypotonia, seizures, and absent language


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


pregnancy loss, recurrent, susceptibility to, 1


familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


thrombophilia due to protein C deficiency, autosomal recessive


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4


autosomal recessive early-onset Parkinson disease 6


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2


ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3


complex cortical dysplasia with other brain malformations 6


basal ganglia calcification, idiopathic, 4


breast-ovarian cancer, familial, susceptibility to, 3


cognitive impairment with or without cerebellar ataxia


autosomal dominant nonsyndromic hearing loss 25


autosomal recessive nonsyndromic hearing loss 6


developmental and epileptic encephalopathy, 13


developmental and epileptic encephalopathy, 32


developmental and epileptic encephalopathy, 8


immunodeficiency-centromeric instability-facial anomalies syndrome 4


intellectual disability, autosomal dominant 41


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


gnb5-related intellectual disability-cardiac arrhythmia syndrome


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


microcephaly 4, primary, autosomal recessive


microcephaly 7, primary, autosomal recessive


megaconial type congenital muscular dystrophy


acroosteolysis-keloid-like lesions-premature aging syndrome


multiple cutaneous and mucosal venous malformations


vitamin D hydroxylation-deficient rickets, type 1B


1-(4-chlorobenzoyl)-5-methoxy-2-1H-indole-3-acetic acid 3-(nitrooxymethyl)phenyl ester


Charcot-Marie-Tooth disease dominant intermediate C


developmental and epileptic encephalopathy, 43


isolated thyroid-stimulating hormone deficiency


developmental and epileptic encephalopathy, 46


15-Hydroxy-11 alpha,9 alpha-(epoxymethano)prosta-5,13-dienoic Acid


ectopia lentis 1, isolated, autosomal dominant


progeroid and marfanoid aspect-lipodystrophy syndrome


intellectual disability, autosomal dominant 29


atypical chronic myeloid leukemia, BCR-ABL1 negative


hereditary hyperferritinemia with congenital cataracts


17,20-((1-methoxyethylidene)bis(oxy))-3-oxo-19-norpregna-4,20-diene-21-carboxylic acid methyl ester


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


corticosterone methyloxidase type 1 deficiency


autosomal recessive nonsyndromic hearing loss 84B


Ehlers-Danlos syndrome, periodontitis type


generalized epilepsy with febrile seizures plus, type 2


Charcot-Marie-Tooth disease axonal type 2U


combined oxidative phosphorylation defect type 4


neonatal diabetes mellitus with congenital hypothyroidism


epidermolysis bullosa simplex 2E, with migratory circinate erythema


epidermolysis bullosa simplex 2F, with mottled pigmentation


autosomal dominant nocturnal frontal lobe epilepsy 4


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders


hereditary hypotrichosis with recurrent skin vesicles


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


palmoplantar keratoderma, nonepidermolytic, focal or diffuse


Charcot-Marie-Tooth disease dominant intermediate D


Schizophrenia Spectrum and Other Psychotic Disorders


hypogonadotropic hypogonadism 12 with or without anosmia


adenosine monophosphate deaminase deficiency


brachycephaly, trichomegaly, and developmental delay


developmental and epileptic encephalopathy, 2


COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4


corneal dystrophy-perceptive deafness syndrome


posterior polymorphous corneal dystrophy 2


congenital hereditary endothelial dystrophy of cornea


severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome


high myopia-sensorineural deafness syndrome


autosomal dominant nonsyndromic hearing loss 15


autosomal dominant nonsyndromic hearing loss 65


autosomal recessive nonsyndromic hearing loss 48


autosomal recessive nonsyndromic hearing loss 86


infantile-onset generalized dyskinesia with orofacial involvement


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


generalized epilepsy with febrile seizures plus, type 9


hypogonadotropic hypogonadism 14 with or without anosmia


hypotonia, infantile, with psychomotor retardation and characteristic facies 2


lethal congenital contracture syndrome 4


intellectual disability, autosomal recessive 6


intellectual disability, X-linked, with panhypopituitarism


microcephaly 9, primary, autosomal recessive


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


microphthalmia, isolated, with coloboma 3


myopathy due to myoadenylate deaminase deficiency


congenital stationary night blindness autosomal dominant 1


autosomal recessive early-onset Parkinson disease 23


pituitary hormone deficiency, combined, 1


posterior column ataxia-retinitis pigmentosa syndrome


alpha-N-acetylgalactosaminidase deficiency type 1


autosomal recessive complex spastic paraplegia type 9B


striatal degeneration, autosomal dominant 2


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


hypothyroidism, congenital, nongoitrous, 5


testicular anomalies with or without congenital heart disease


microcephalic primordial dwarfism due to ZNF335 deficiency


congenital isolated adrenocorticotropic hormone deficiency


autosomal dominant auditory neuropathy 1


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14


bronchiectasis with or without elevated sweat chloride 3


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


Charcot-Marie-Tooth disease axonal type 2Z


intellectual disability, autosomal dominant 11


palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome


coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome


cone-rod synaptic disorder, congenital nonprogressive


ALG3-congenital disorder of glycosylation


RFT1-congenital disorder of glycosylation


autosomal dominant nonsyndromic hearing loss 21


autosomal recessive nonsyndromic hearing loss 104


autosomal recessive nonsyndromic hearing loss 63


autosomal recessive nonsyndromic hearing loss 88


X-linked hypohidrotic ectodermal dysplasia


Ehlers-Danlos syndrome, spondylodysplastic type


global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies


lethal polymalformative syndrome, Boissel type


sinus histiocytosis with massive lymphadenopathy


hydrocephalus, nonsyndromic, autosomal recessive 2


familial juvenile hyperuricemic nephropathy type 2


hypogonadotropic hypogonadism 16 with or without anosmia


hypothyroidism, congenital, nongoitrous, 2


hypotonia, ataxia, and delayed development syndrome


channelopathy-associated congenital insensitivity to pain, autosomal recessive


intellectual disability-severe speech delay-mild dysmorphism syndrome


X-linked intellectual disability, Cantagrel type


X-linked intellectual disability-short stature-overweight syndrome


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency


autosomal recessive limb-girdle muscular dystrophy type 2A


autosomal recessive limb-girdle muscular dystrophy type 2F


syndromic X-linked intellectual disability 5


intellectual disability, X-linked syndromic, Turner type


neurodegeneration with brain iron accumulation 6


intellectual disability, autosomal recessive 53


neuropathy, hereditary sensory and autonomic, type 2B


pigmented nodular adrenocortical disease, primary, 2


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2


rhizomelic chondrodysplasia punctata type 3


syndromic X-linked intellectual disability Snyder type


split-foot malformation-mesoaxial polydactyly syndrome


STING-associated vasculopathy with onset in infancy


surfactant metabolism dysfunction, pulmonary, 1


surfactant metabolism dysfunction, pulmonary, 2


helicoid peripapillary chorioretinal degeneration


thrombocytopenia, anemia, and myelofibrosis


isolated thyrotropin-releasing hormone deficiency


Trichorhinophalangeal Syndrome, Type III


normophosphatemic familial tumoral calcinosis


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome


autosomal recessive ataxia due to ubiquinone deficiency


autosomal recessive distal renal tubular acidosis


split hand-foot malformation 1 with sensorineural hearing loss


amelogenesis imperfecta hypomaturation type 2A5


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


asthma-related traits, susceptibility to, 5


combined oxidative phosphorylation defect type 25


congenital myopathy 7A, myosin storage, autosomal dominant


spondyloepiphyseal dysplasia with metatarsal shortening


autosomal recessive nonsyndromic hearing loss 59


autosomal recessive nonsyndromic hearing loss 76


autosomal recessive nonsyndromic hearing loss 91


developmental and epileptic encephalopathy, 14


developmental and epileptic encephalopathy, 33


diabetes mellitus, transient neonatal, 3


autosomal dominant nocturnal frontal lobe epilepsy 5


multiple epiphyseal dysplasia, Beighton type


hypogonadotropic hypogonadism 20 with or without anosmia


hypomagnesemia, seizures, and intellectual disability 1


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


intellectual disability, autosomal dominant 38


lethal congenital contracture syndrome 6


lethal congenital contracture syndrome 7


maturity-onset diabetes of the young type 13


intellectual disability, autosomal recessive 5


muscular dystrophy-dystroglycanopathy type B6


myopathy, myosin storage, autosomal recessive


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


parietal foramina with cleidocranial dysplasia


autosomal recessive spastic paraplegia type 78


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome


Stickler syndrome, type I, nonsyndromic ocular


spondyloepimetaphyseal dysplasia, Strudwick type


Charcot-Marie-Tooth disease dominant intermediate F


hypogonadotropic hypogonadism 15 with or without anosmia


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency


intellectual disability, autosomal dominant 43


limb-girdle muscular dystrophy due to POMK deficiency


1-(methylimino-N-oxy)-6-(2-morpholinoethoxy)-3-phenyl-1H-indene-2-carboxylic acid ethyl ester


combined immunodeficiency due to partial RAG1 deficiency


amelogenesis imperfecta hypomaturation type 2A2


arrhythmogenic right ventricular dysplasia 13


combined immunodeficiency with skin granulomas


congenital amegakaryocytic thrombocytopenia 1


autosomal recessive nonsyndromic hearing loss 93


diabetes mellitus, congenital autoimmune


severe dermatitis-multiple allergies-metabolic wasting syndrome


familial cold autoinflammatory syndrome 2


autosomal recessive congenital ichthyosis 9


recurrent infections associated with rare immunoglobulin isotypes deficiency


palmoplantar keratoderma i, striate, focal, or diffuse


autosomal recessive limb-girdle muscular dystrophy type 2C


autosomal recessive limb-girdle muscular dystrophy type 2E


seborrhea-like dermatitis with psoriasiform elements


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive


Charcot-Marie-Tooth disease recessive intermediate A


Ehlers-Danlos syndrome, musculocontractural type 2


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester


Ehlers-Danlos syndrome, dermatosparaxis type


familial encephalopathy with neuroserpin inclusion bodies


intellectual disability, autosomal dominant 1


microcephaly, short stature, and impaired glucose metabolism 1


bilateral microtia-deafness-cleft palate syndrome


myopia, high, with cataract and vitreoretinal degeneration


amelogenesis imperfecta hypomaturation type 2A3


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18


predisposition to invasive fungal disease due to CARD9 deficiency


catecholaminergic polymorphic ventricular tachycardia 5


Charcot-Marie-Tooth disease axonal type 2CC


congenital contractures of the limbs and face, hypotonia, and developmental delay


COG5-congenital disorder of glycosylation


cortical dysplasia-focal epilepsy syndrome


autosomal recessive nonsyndromic hearing loss 12


autosomal recessive nonsyndromic hearing loss 35


autosomal recessive nonsyndromic hearing loss 98


deafness with labyrinthine aplasia, microtia, and microdontia


ectodermal dysplasia-syndactyly syndrome 1


hypogonadotropic hypogonadism 8 with or without anosmia


hypotonia, infantile, with psychomotor retardation and characteristic facies 1


infantile convulsions and choreoathetosis


immunodeficiency due to MASP-2 deficiency


OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16


optic atrophy 10 with or without ataxia, intellectual disability, and seizures


thrombocytopenia, X-linked, with or without dyserythropoietic anemia


Transient Myeloproliferative Disorder of Down Syndrome


amelogenesis imperfecta, hypomaturation type, IIa6


Congenital, Hereditary, and Neonatal Diseases and Abnormalities


hypophosphatemic rickets, autosomal recessive, 1


intellectual disability, autosomal recessive 47


autosomal recessive severe congenital neutropenia due to CSF3R deficiency


Neutrophil Chemotactic Response, Abnormal


telangiectasia, hereditary hemorrhagic, type 5


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


progressive pseudorheumatoid arthropathy of childhood


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3


X-linked dominant chondrodysplasia, Chassaing-Lacombe type


PMM2-congenital disorder of glycosylation


congenital disorder of glycosylation, type IIq


autosomal dominant nonsyndromic hearing loss 10


autosomal recessive nonsyndromic hearing loss 61


autosomal recessive nonsyndromic hearing loss 84A


developmental and epileptic encephalopathy, 18


severe neonatal-onset encephalopathy with microcephaly


encephalopathy, progressive, with amyotrophy and optic atrophy


congenital enteropathy due to enteropeptidase deficiency


developmental and epileptic encephalopathy, 4


immunodeficiency due to ficolin3 deficiency


hereditary hypercarotenemia and vitamin A deficiency


X-linked central congenital hypothyroidism with late-onset testicular enlargement


X-linked intellectual disability-psychosis-macroorchidism syndrome


autosomal recessive Kenny-Caffey syndrome


cystic leukoencephalopathy without megalencephaly


syndromic X-linked intellectual disability Lubs type


intellectual disability, autosomal dominant 3


autosomal recessive limb-girdle muscular dystrophy type 2L


congenital stationary night blindness autosomal dominant 2


pigmented paravenous retinochoroidal atrophy


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1


diarrhea-vomiting due to trehalase deficiency


vitamin K-dependent clotting factors, combined deficiency of, type 1


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


microcephaly, short stature, and impaired glucose metabolism 2


2,2-dimethyl-3-(4-(naphthalen-2-ylamino)phenyl)-3-(1,2,4)triazol-1-yl-propionic acid methyl ester


cholesterol-ester transfer protein deficiency


autoinflammation with arthritis and dyskeratosis


corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


vitiligo-associated multiple autoimmune disease susceptibility 1


2-(2-oxo-2-((3,7,11-trimethyl-2,6,10-dodecatrienyl)oxy)aminoethyl)phosphonic acid, (2,2-dimethyl-1-oxopropoxy)methyl ester sodium


Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


combined oxidative phosphorylation defect type 15


complex cortical dysplasia with other brain malformations 3


autosomal dominant nonsyndromic hearing loss 3B


autosomal recessive nonsyndromic hearing loss 1B


autosomal recessive nonsyndromic hearing loss 68


Increased circulating immunoglobulin concentration


microcephaly 3, primary, autosomal recessive


autosomal recessive limb-girdle muscular dystrophy type 2U


neuronopathy, distal hereditary motor, type 2C


palmoplantar keratoderma, Nagashima type


peroxisome biogenesis disorder 13A (Zellweger)


pyruvate dehydrogenase phosphatase deficiency


retinitis pigmentosa and erythrocytic microcytosis


autosomal dominant nonsyndromic hearing loss 36


autosomal recessive nonsyndromic hearing loss 23


autosomal recessive nonsyndromic hearing loss 7


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome


autosomal recessive nonsyndromic hearing loss 66


isolated neonatal sclerosing cholangitis


autosomal recessive nonsyndromic hearing loss 67


developmental and epileptic encephalopathy, 24


autosomal recessive congenital ichthyosis 3


intellectual disability, autosomal dominant 39


Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome


colobomatous optic disc-macular atrophy-chorioretinopathy syndrome


midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


myopathy due to calsequestrin and SERCA1 protein overload


neuronopathy, distal hereditary motor, type 7A


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


spondyloepimetaphyseal dysplasia, matrilin-3 type


SRD5A3-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 8


macrocephaly, dysmorphic facies, and psychomotor retardation


2,3-dimercaptosuccinic acid monocyclohexyl ester


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10


COG1-congenital disorder of glycosylation


arrhythmogenic right ventricular dysplasia 11


Charcot-Marie-Tooth disease axonal type 2S


combined oxidative phosphorylation defect type 14


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency


lung disease, immunodeficiency, and chromosome breakage syndrome;


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


autosomal recessive limb-girdle muscular dystrophy type 2M


autosomal recessive distal spinal muscular atrophy 1


2-(4-isobutylphenyl)propionic acid 4-(diethoxyphosphoryloxy)butyl ester


hemolytic anemia due to glucophosphate isomerase deficiency


developmental and epileptic encephalopathy, 38


autosomal dominant nonsyndromic hearing loss 50


2-(acetyloxy)benzoic acid 6-(nitrooxymethyl)-2-phenylmethyl ester


combined malonic and methylmalonic acidemia


arthrogryposis multiplex congenita 2, neurogenic type


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid ethyl amide


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid methyl amide


autosomal recessive nonsyndromic hearing loss 74


craniofacial dysplasia - osteopenia syndrome


2-methyl-3-(2-((4-nitrooxybutyloxy)carbonyl)vinyl)phenyl ursodeoxycholic acid ester


combined oxidative phosphorylation defect type 7


autosomal dominant nonsyndromic hearing loss 12


autosomal recessive nonsyndromic hearing loss 21


amelogenesis imperfecta hypomaturation type 2A4


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


intellectual disability, autosomal recessive 43


intellectual developmental disorder with dysmorphic facies and ptosis


microcephalic primordial dwarfism due to RTTN deficiency


neurodegeneration with brain iron accumulation 4


3-(4-(4-((1-(2-chlorophenyl)ethoxy)carbonyl amino)-3-methyl-5-isoxazolyl) benzylsulfanyl) propanoic acid


Autoimmune polyendocrinopathy syndrome, type 1


congenital unilateral hypoplasia of depressor anguli oris


autosomal recessive nonsyndromic hearing loss 30


migraine, with or without aura, susceptibility to, 13


autosomal recessive limb-girdle muscular dystrophy type R18


hereditary hypophosphatemic rickets with hypercalciuria


autoimmune disease, susceptibility to, 1


3,5-dibromo-4-(3,4-dimethoxyphenyl)-1H-pyrrole-2-carboxylic acid ethyl ester


autosomal recessive congenital ichthyosis 8


microcephalic osteodysplastic primordial dwarfism type I


Progeroid features, hepatocellular carcinoma predisposition syndrome


3-adenin-9-yl-2-hydroxypropanoic acid isobutyl ester


3beta-(4-chlorophenyl) tropane-2beta-(3-(4'-methylphenyl) isoxazol-5-yl) hydrochloride


3-bromoacetylamino benzoic acid ethyl ester


3-hydroxylup-20(29)-ene-27,28-dioic acid dimethyl ester


facial paresis, hereditary congenital, 2


4(4-(5-nitro-furan-2-ylmethylene)-3,5-dioxo-pyrazolidin-1-yl)-benzoic acid ethyl ester


4-(((4-carboxybutyl) (2- (5-fluoro-2-((4'-(trifluoromethyl) biphenyl-4-yl)methoxy)phenyl)ethyl) amino)methyl)benzoic acid


developmental delay with short stature, dysmorphic facial features, and sparse hair 1


non-acquired combined pituitary hormone deficiency with spine abnormalities


craniometaphyseal dysplasia, autosomal dominant


developmental and epileptic encephalopathy, 37


hypogonadotropic hypogonadism 10 with or without anosmia


Hypopituitarism and septooptic 'dysplasia'


benign concentric annular macular dystrophy


heart defect - tongue hamartoma - polysyndactyly syndrome


4,5-dihydropyrazole-1,5-dicarboxylic acid 1-((4-chlorophenyl)-amide) 5-(2-oxo-2H-(1,3')bipyridinyl-6'-yl)-amide


congenital insensitivity to pain-hypohidrosis syndrome


hereditary sensory and autonomic neuropathy type 5


hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome


intellectual disability, autosomal recessive 52


macrothrombocytopenia, isolated, 1, autosomal dominant


5-pregnene-3 beta,17 alpha,20 alpha-triol


5(S),6(R)-7-trihydroxyheptanoic acid, methyl ester


6,8-diallyl 5,7-dihydroxy 2-(2-allyl 3-hydroxy 4-methoxyphenyl)1-H benzo(b)pyran-4-one


7-(hydroxyimino)cyclopropan(b)chromen-1a-carbxoylic acid ethyl ester


Carney complex - trismus - pseudocamptodactyly syndrome


abacavir, lamivudine, and zidovudine drug combination


SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5


thyrotoxic periodic paralysis, susceptibility to, 2


autosomal dominant nonsyndromic hearing loss 4B


developmental and epileptic encephalopathy, 40


eosinophilic granulomatosis with polyangiitis


autosomal recessive nonsyndromic hearing loss 16


autosomal recessive nonsyndromic hearing loss 22


renal hypomagnesemia 5 with ocular involvement


autosomal recessive congenital ichthyosis 5


acetaminophen, aspirin, caffeine drug combination


acetaminophen, dextropropoxyphene, drug combination


acetaminophen, hydrocodone drug combination


Idiopathic intracranial hypertension with papilledema


acetylenedicarboxylic acid dimethyl ester


acidic oligosaccharide sugar chain, Echlonia Kurome Okam


cleft palate with or without ankyloglossia, X-linked


autosomal dominant nonsyndromic hearing loss 2A


autosomal recessive nonsyndromic hearing loss 3


familial episodic pain syndrome with predominantly lower limb involvement


hereditary sensory and autonomic neuropathy type 7


Tachycardia, Atrioventricular Nodal Reentry


Adenosine, cyclic 3',5'-[hydrogen [p(s)]-phosphorothioate]


EC 4.6.1.1 (adenylate cyclase) inhibitor


fibrosis of extraocular muscles, congenital, 5


nephrolithiasis, uric acid, susceptibility to


ciliary dyskinesia, primary, 36, X-linked


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15


maternally-inherited diabetes and deafness


2-amino-6-chloro-alpha-cyano-3-(ethoxycarbonyl)-4H-1-benzopyran-4-acetic acid ethyl ester


alginate, aluminium hydroxide, magnesium trisilicate, sodium bicarbonate drug combination


alginic acid, nitrofurazone drug combination


algininic acid, mafenide drug combination


anti-neutrophil cytoplasmic antibody-associated vasculitis


allopurinol, benzbromarone drug combination


alpha helical corticotropin-releasing hormone


aluminium hydroxide, magnesium carbonate drug combination


aluminum hydroxide, magnesium hydroxide, simethicone drug combination


Amb a I protein, Ambrosia artemisiifolia


myelodysplastic syndrome with excess blasts


amitriptyline, perphenazine drug combination


amlodipine, atorvastatin drug combination


aortic aneurysm, familial thoracic 11, susceptibility to


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


female infertility due to zona pellucida defect


PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL


amodiaquine, artesunate drug combination


central nervous system infectious disorder


amphotericin B, deoxycholate drug combination


EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor


anticoagulation factor II, Agkistrodon acutus


Central Nervous System Fungal Infections


APEKTx1 peptide, Anthopleura elegantissima


APETx2 protein, Anthopleura elegantissima


leukoencephalopathy with calcifications and cysts


autosomal recessive nonsyndromic hearing loss 25


human T-lymphotropic virus 1 infectious disease


Artemether, Lumefantrine Drug Combination


mesoaxial synostotic syndactyly with phalangeal reduction


Lead Poisoning, Nervous System, Childhood


aspirin, butalbital and caffeine drug combination


aspirin, caffeine, phenacetin drug combination


aspirin, caffeine, salicylamide drug combination


aspirin, codeine, phenacetin drug combination


Aspirin-oxycodone hydrochloride-oxycodone terephthalate combination


atenolol, chlortalidone drug combinations


benzathine benzylpenicillin, procaine benzylpenicillin, drug combination


autosomal recessive nonsyndromic hearing loss 101


deafness-intellectual disability, Martin-Probst type syndrome


benzocaine, butyl aminobenzoate, tetracaine drug combination


benzyloxycarbonyl-alanyl-glutamyl-valyl-aspartic acid fluoromethyl ketone


benzyloxycarbonyl-isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


benzyloxycarbonyltyrosyl-valyl-alanyl-aspartic acid fluoromethyl ketone


beta-adrenergic receptor kinase inhibitory peptide


9H-pyrido[3,4-b]indole-3-carboxylic acid ethyl ester


bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)


boric acid, nitrofurazone, procaine drug combination


bovine serum albumin-corticosterone conjugate


brallobarbital, hydroxyzine, secobarbital drug combination


brompheniramine, pseudoephedrine drug combination


Buprenorphine, Naloxone Drug Combination


butaphosphan, cyanocobalamin drug combination


caffeine, chlorpheniramine, dihydrocodeine, methylephedrine drug combination


caffeine, codeine, acetaminophen, propyphenazone drug combination


caffeine, sodium benzoate drug combination


camphor, cedar leaf oil, eucalyptus oil, menthol, myristica oil, terebinth oil, thymol drug combination


captopril, hydrochlorothiazide drug combination


acute generalized exanthematous pustulosis


anti-glomerular basement membrane disease


monoclonal gammopathy of uncertain significance


EC 4.2.1.1 (carbonic anhydrase) inhibitor


Central Nervous System Bacterial Infections


cetylpyridinium chloride, zinc acetate drug combination


chlorhexidine gluconate, lidocaine drug combination


Pathological Conditions, Signs and Symptoms


chromium (III) beta,gamma-bidentate guanosine triphosphate


chromium (III) bidentate guanosine 5'-(beta,gamma-imido)triphosphate


cis-9, trans-11-conjugated linoleic acid


cisplatin-deoxy(guanosine monophosphate guanosine) adduct


clopamide, dihydroergotoxine, reserpine drug combination


nasal cavity and paranasal sinus lethal midline granuloma


temporomandibular joint dysfunction syndrome


Corticotropin-Like Intermediate Lobe Peptide


cyclohexylcarbamic acid biphenyl-3-yl ester


cyclohexyl carbonic acid 3'-carbamoyl-3-yl ester


EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor


cyclothiazide, triamterene drug combination


Cyproterone acetate, ethinyl estradiol drug combination


porcine reproductive and respiratory syndrome


Dermatophagoides pteronyssinus antigen p 1


Dermatophagoides pteronyssinus antigen p 2


Derp2 allergen, Dermatophagoides pteronyssinus


Traumatic intraparenchymal cerebral hemorrhage


dexamethasone, neomycin, polymyxin B drug combination


dextromethorphan - quinidine combination


Hyperglycemic Hyperosmolar Nonketotic Coma


Dibenz(b,f)(1,4)oxazepine-10(11H)-carboxylic acid, 8-chloro-, 2-acetylhydrazide


dicyclomine, doxylamine, pyridoxine drug combination


diethyl 2-phenyl-2 tellurophenyl vinylphosphonate


diethylene glycol dimethacrylate polymer


isolated noncompaction of the ventricular myocardium


dinitrophenyl-human serum albumin conjugate


drospirenone and ethinyl estradiol combination


Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination


efavirenz, lamivudine, tenofovir disoproxil fumarate drug combination


Chronic Kidney Diseases of Uncertain Etiology


enkephalin-Leu, Ala(2)-melphalan methyl ester-


myalgic encephalomeyelitis/chronic fatigue syndrome


estradiol benzoate, testosterone propionate drug combination


estradiol, norethindrone drug combination


ethinyl estradiol, levonorgestrel drug combination


ethosuximide, quinacrine drug combination


eugenol, zinc oxide dental cavity lining


Epileptic encephalopathy, Lennox-Gastaut type


skin disease caused by bacterial infection


fluorescein isothiocyanate bovine serum albumin


EC 1.5.1.3 (dihydrofolate reductase) inhibitor


fructus schizandrae, radix ginseng, radix ophiopogonis drug combination


gelatin, glycerin, zinc oxide drug combination


Glial Cell Line-Derived Neurotrophic Factor


glucagon-like peptide-1 receptor agonist


gp120 protein, Human immunodeficiency virus 1


Gramicidin, Neomycin Sulfate, Nystatin, Triamcinolone Acetonide Drug Combination


Phosphoaminophosphonic acid guanylate ester


famililal cerebral cavernous malformations


hydrochlorothiazide, lisinopril drug combination


hydrocortisone, neomycin, polymyxin B drug combination


hydroxy-2-naphthalenyl-methyl phosphonic acid trisacetoxymethylester


indapamide, perindopril drug combination


insecticidal crystal protein, Bacillus Thuringiensis


Interleukin 1 Receptor Antagonist Protein


interleukin 6-interleukin 6 receptor fusion protein, recombinant


isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


isoniazid, pyrazinamide, rifampin drug combination


Metabolic Side Effects of Drugs and Substances


lipopolysaccharide, Escherichia coli O111 B4


Speech disturbance - use of faulty phrasing and unrelated words


Lys49-phospholipase A2, Bothrops lternatus


malondialdehyde-low density lipoprotein, human


manganese tetrakis-(N-ethyl-2 pyridyl) porphyrin


manganese tetrakis-(N-methyl-2 pyridyl) porphyrin


circadian rhythm sleep disorder, jet lag type


methanol extraction residue (MER) tubercle bacillus fraction


46,XX ovotesticular disorder of sex development


chronic inflammatory demyelinating polyradiculoneuropathy


hearing loss, mixed conductive-sensorineural


Trichomonas vaginitis urogenital infection


mineral acids, trace elements, water, drug combination


EC 1.4.3.4 (monoamine oxidase) inhibitor


vitamin K deficiency hemorrhagic disease


myelin oligodendrocyte glycoprotein (35-55)


myristoylated autocamtide-2-related inhibitory peptide


N-3-(3-(3-methoxy-4-oxazol-5-ylphenyl)ureido)benzylcarbamic acid tetrahydrofuran-3-yl ester


N-(3-aminopropyl)-2-(((3-methylphenyl) methyl)oxy)-N-(2-thienylmethyl)benzamide hydrochloride salt


N-(4-(3-((4-fluorophenyl)hydroxymethyl)-4-hydroxyphenoxy)-3,5-dimethylphenyl) malonamic acid sodium


oligoarticular juvenile idiopathic arthritis


N-ethyl perfluorooctane sulfonamido acetate


nicotinic acetylcholine receptor agonist


2-(4-bromophenyl)propanoic acid (8-methyl-8-azabicyclo[3.2.1]octan-3-yl) ester


norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination


norgestimate, ethinyl estradiol drug combination


(N-propargyl-(3R) aminoindan-5-yl)-ethyl methyl carbamate


octanedioic acid (1-(3-azido-5-azidomethylbenzyl)-1H-pyrazol-4-yl)amide hydroxyamide


Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules


EC 4.1.1.17 (ornithine decarboxylase) inhibitor


papaverine, phentolamine drug combination


Myasthenia Gravis, Autoimmune, Experimental


myasthenia gravis with thymus hyperplasia


acquired thrombotic thrombocytopenic purpura


asthma-related traits, susceptibility to, 8


P-glycoprotein inducer and activator TX5


phenazopyridine, sulfamethoxazole drug combinations


phenylalanyl corticotropin-releasing factor (12-41)


cutis marmorata telangiectatica congenita


3,5-Dimethyl-1-(3-Nitrophenyl)-1h-Pyrazole-4-Carboxylic Acid Ethyl Ester


EC 3.1.4.* (phosphoric diester hydrolase) inhibitor


phosphoric acid mono-(2-(4-(3,3-dimethylbutyrylamino)-3,5-difluorobenzoylimino)thiazol-3-ylmethyl) ester


Piperacillin, Tazobactam Drug Combination


pituitary adenylate cyclase activating polypeptide


EC 2.4.2.30 (NAD(+) ADP-ribosyltransferase) inhibitor


polycyclic aromatic hydrocarbons-DNA adduct


polyethylene glycol-recombinant human megakaryocyte growth and development factor


Polylactic Acid-Polyglycolic Acid Copolymer


poly(methyl vinyl ether-co-maleic anhydride)


Disturbance during transitions between sleep and wake states


EC 1.14.11.2 (procollagen-proline dioxygenase) inhibitor