severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome


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drug rash with eosinophilia and systemic symptoms


Enanthema

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


X-linked complicated spastic paraplegia type 1


Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome


macrostomia-preauricular tags-external ophthalmoplegia syndrome


EEG with hyperventilation-induced epileptiform discharges


Abnormal circulating fibroblast growth factor 23 concentration


Abnormality of the urinary system physiology


steroid-responsive encephalopathy associated with autoimmune thyroiditis


intellectual disability-obesity-brain malformations-facial dysmorphism syndrome


autosomal dominant optic atrophy plus syndrome


EMG: impaired neuromuscular transmission


microgastria-limb reduction defect syndrome


Abnormal morphology of the great vessels


eosinophilic granulomatosis with polyangiitis


Anti-neutrophil elastase antibody positivity


leukoencephalopathy with bilateral anterior temporal lobe cysts


microcephaly-microcornea syndrome, Seemanova type


Abnormal common carotid artery morphology


microcephaly-seizures-intellectual disability-heart disease syndrome


autosomal recessive primary microcephaly


SIN3A-related intellectual disability syndrome due to a point mutation


Mild malformation of cortical development


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome


multiple benign circumferential skin creases on limbs


Proximal finger joint hyperextensibility


Abnormal metatarsal epiphysis morphology


Abnormality of the second metatarsal bone


Abnormality of the third metatarsal bone


Abnormality of the fourth metatarsal bone


developmental and speech delay due to SOX5 deficiency


Ehlers-Danlos syndrome, periodontitis type


chondroectodermal dysplasia with night blindness


Atrophy/Degeneration involving the corticospinal tracts


Abnormal brainstem white matter morphology


aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome


brain malformation-congenital heart disease-postaxial polydactyly syndrome


X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome


Abnormal peripheral action potential amplitude


Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome


Excessive insulin response to glucagon test


glycogen storage disease due to liver phosphorylase kinase deficiency


obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome


chromosome 17q21.31 duplication syndrome


X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome


muscular dystrophy-dystroglycanopathy, type A


Aplasia/Hypoplasia involving the skeletal musculature


Abnormal circulating aldolase concentration


intellectual disability-polydactyly-uncombable hair syndrome


retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome


Abnormal peripheral nerve morphology by anatomical site


intellectual disability-short stature-hypertelorism syndrome


Abnormal circulating methionine concentration


Abnormal circulating homocysteine concentration


Reduced plasminogen activator inhibitor 1 activity


intellectual disability, Buenos-Aires type


Cuboid-shaped thoracolumbar vertebral bodies


hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation


intellectual disability-myopathy-short stature-endocrine defect syndrome


dextro-looped transposition of the great arteries


X-linked intellectual disability-seizures-psoriasis syndrome


Abnormality of the epiphyses of the elbow


moderate multiminicore disease with hand involvement


antenatal multiminicore disease with arthrogryposis multiplex congenita


aldosterone-producing adrenal cortex adenoma


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome


Foveal photoreceptor outer segment loss on macular OCT


intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome


MYT1L-related developmental delay-intellectual disability-obesity syndrome


growth delay-hydrocephaly-lung hypoplasia syndrome


segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome


Abnormal blood inorganic cation concentration


Anti-steroid 17alpha-hydroxylase antibody positivity


Decreased circulating prealbumin concentration


hereditary sensory and autonomic neuropathy type 2


hereditary continuous muscle fiber activity


Abnormality of bone marrow stromal cells


Cortical diaphyseal thickening of the upper limbs


familial focal epilepsy with variable foci


myelodysplastic syndrome with excess blasts


Abnormal circulating albumin concentration


ectodermal dysplasia and immune deficiency


Abnormality of the pulmonary vasculature


Renal interstitial immunoglobulin deposits


Anti-phospholipase A2 receptor antibody positivity


Elevated circulating fibroblast growth factor 23 concentration


Abnormal lower-limb metaphysis morphology


X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability


Functional abnormality of male internal genitalia


multiple system atrophy, cerebellar type


Perisylvian predominant thick cortex pachygyria


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


Focal impaired awareness autonomic seizure


night blindness-skeletal anomalies-dysmorphism syndrome


glycogen storage disease due to acid maltase deficiency, infantile onset


Silver-Russell syndrome due to a point mutation


global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome


Abnormal erythroid lineage cell morphology


cataract-intellectual disability-anal atresia-urinary defects syndrome


atypical pantothenate kinase-associated neurodegeneration


adult-onset distal myopathy due to VCP mutation


Abnormality of the musculature of the lower limbs


cortical blindness-intellectual disability-polydactyly syndrome


nodular lymphocyte predominant Hodgkin lymphoma


Decreased double-negative T cell proportion


Anti-liver cytosolic antigen type 1 antibody positivity


spastic paraplegia-Paget disease of bone syndrome


X-linked Emery-Dreifuss muscular dystrophy


classic pantothenate kinase-associated neurodegeneration


cataract-aberrant oral frenula-growth delay syndrome


Autosomal recessive Emery-Dreifuss muscular dystrophy


autosomal dominant Emery-Dreifuss muscular dystrophy


autosomal recessive centronuclear myopathy


Advanced pneumatization of cranial sinuses


autosomal recessive cerebellar ataxia with late-onset spasticity


infection-related hemolytic uremic syndrome


Abnormal circulating chemokine concentration


Abnormal circulating interferon concentration


drug-induced autoimmune hemolytic anemia


Shiga toxin-associated hemolytic uremic syndrome


atrioventricular defect-blepharophimosis-radial and anal defect syndrome


T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


Abnormal circulating calcium-phosphate regulating hormone concentration


Zellweger-like syndrome without peroxisomal anomalies


congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies


cardiomyopathy-cataract-hip spine disease syndrome


pituitary deficiency due to Rathke's pouch cysts


pituitary deficiency due to empty sella turcica syndrome


maternally-inherited cardiomyopathy and hearing loss


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion


nephropathy - deafness - hyperparathyroidism syndrome


lissencephaly type 3-metacarpal bone dysplasia syndrome


Hao-Fountain syndrome due to 16p13.2 microdeletion


familial avascular necrosis of femoral head


autosomal dominant dopa-responsive dystonia


camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye


Abnormal synaptic transmission at the neuromuscular junction


Abnormal gastrointestinal vascular morphology


Abnormal atrioventricular valve physiology


camptodactyly syndrome, Guadalajara type 1


camptodactyly syndrome, Guadalajara type 2


benign adult familial myoclonic epilepsy


Abnormal gonadotropin-releasing hormone concentration


infantile choroidocerebral calcification syndrome


microcephalic primordial dwarfism, Toriello type


mesomelic dwarfism, Reinhardt-Pfeiffer type


Abnormality of the eleventh cranial nerve


Abnormality of the twelfth cranial nerve


microcephalic osteodysplastic primordial dwarfism types I and III


acquired aneurysmal subarachnoid hemorrhage


Abnormal hepatobiliary system physiology


Irregular septal thickening on pulmonary HRCT


PRKAR1B-related neurodegenerative dementia with intermediate filaments


Complete duplication of the distal phalanges of the hand


FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome


tubulointerstitial nephritis and uveitis syndrome


Abnormal circulating interferon-gamma concentration


secondary hypoparathyroidism due to impaired parathormon secretion


optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome


Periventricular white matter hypodensities


Abnormal naive CD4-positive T cell proportion


CSF anti-NMDA receptor antibody positivity


Muscle abnormality related to mitochondrial dysfunction


ectodermal dysplasia, trichoodontoonychial type


epiphyseal dysplasia-hearing loss-dysmorphism syndrome


hidrotic ectodermal dysplasia, Halal type


hidrotic ectodermal dysplasia, Christianson-Fourie type


ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome


autosomal dominant hypohidrotic ectodermal dysplasia


Anti-topoisomerase I antibody positivity


Subluxation of the small joints of the hand


Subretinal pigment epithelium hemorrhage


Abnormal central response of multifocal electroretinogram


Photoreceptor outer segment loss on macular OCT


Turner syndrome due to structural X chromosome anomalies


Elevated tissue non-specific alkaline phosphatase


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Anti-signal recognition particle antibody positivity


multiple epiphyseal dysplasia due to collagen 9 anomaly


Fragmentation of the metacarpal epiphyses


Abnormality of the epiphyses of the feet


subacute inflammatory demyelinating polyneuropathy


Ehlers-Danlos syndrome, spondylodysplastic type


Abnormal ossification involving the femoral head and neck


hereditary thrombophilia due to congenital protein S deficiency


Pubertal developmental failure in females


primary microcephaly-mild intellectual disability-young-onset diabetes syndrome


autosomal recessive polycystic kidney disease


short fifth metacarpals-insulin resistance syndrome


Osteolytic defects of the middle phalanx of the 4th toe


multiple epiphyseal dysplasia, Lowry type


contractures-developmental delay-Pierre Robin syndrome


Reduced contraction of the left ventricular apex


symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers


complete androgen insensitivity syndrome


isolated lissencephaly type 1 without known genetic defects


severe phosphoribosylpyrophosphate synthetase superactivity


autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome


distal 22q11.2 microduplication syndrome


ankyloblepharon filiforme-imperforate anus syndrome


mild phosphoribosylpyrophosphate synthetase superactivity


cloverleaf skull-multiple congenital anomalies syndrome


primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome


Anti-Y-box protein-1 antibody positivity


Anti-Gerbich phenotype 1 antibody positivity


Anti-Kelch like protein 12 antibody positivity


Short proximal phalanx of the 5th finger


Short proximal phalanx of the 2nd finger


Abnormality of the common coagulation pathway


aniridia - intellectual disability syndrome


aniridia-ptosis-intellectual disability-familial obesity syndrome


multiple system atrophy, parkinsonian type


encephalopathy due to sulfite oxidase deficiency


paternal 20q13.2q13.3 microdeletion syndrome


rolandic epilepsy-speech dyspraxia syndrome


lethal hemolytic anemia-genital anomalies syndrome


laryngeal abductor paralysis-intellectual disability syndrome


autosomal recessive myogenic arthrogryposis multiplex congenita


osteochondritis of tarsal/metatarsal bone


Aplasia/Hypoplasia involving bones of the thorax


Aplasia of the proximal phalanges of the hand


Abnormal fetal gastrointestinal system morphology


glycogen storage disease due to lactate dehydrogenase deficiency


Abnormality of the costochondral junction


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


Anti-cyclic citrullinated peptide antibody positivity


febrile infection-related epilepsy syndrome


Abnormal migration of corneal endothelium


early-onset autosomal dominant Alzheimer disease


alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome


keratosis follicularis spinulosa decalvans


posterior polymorphous corneal dystrophy


Reduced number of corneal endothelial cells


Complete duplication of the middle phalanx of the 3rd finger


Partial duplication of the proximal phalanx of the 3rd finger


alopecia - contractures - dwarfism - intellectual disability syndrome


Glial remnants anterior to the optic disc


Hyaloid vascular remnant and retrolental mass


epidermolysis bullosa simplex with anodontia/hypodontia


panniculitis and localized lipodystrophy


autosomal dominant hyperinsulinism due to SUR1 deficiency


Kallmann syndrome-heart disease syndrome


autosomal dominant hyperinsulinism due to Kir6.2 deficiency


autosomal recessive spondylocostal dysostosis


autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome


immunodeficiency due to selective anti-polysaccharide antibody deficiency


Recurrent bacterial upper respiratory tract infections


Presynaptic congenital myasthenic syndromes


Synaptic congenital myasthenic syndromes


Unfavorable response of muscle weakness to acetylcholine esterase inhibitors


acute inflammatory demyelinating polyradiculoneuropathy


postsynaptic congenital myasthenic syndrome


Abnormality of the musculature of the upper limbs


diffuse palmoplantar keratoderma - acrocyanosis syndrome


chronic thromboembolic pulmonary hypertension


combined immunodeficiency due to CRAC channel dysfunction


Angelman syndrome due to a point mutation


Angelman syndrome due to imprinting defect in 15q11-q13


Abnormal morphology of the choroidal vasculature


autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction


Deficiency in anterior pituitary function-variable immunodeficiency syndrome


rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome


Joubert syndrome with Jeune asphyxiating thoracic dystrophy


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


Moderate intrauterine growth retardation


bilateral acute depigmentation of the iris


intrauterine growth restriction-short stature-early adult-onset diabetes syndrome


severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome


Elevated vascular endothelial growth factor level


Abnormal circulating metabolite concentration


Conus terminalis arteriovenous malformation


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome


undetermined early-onset epileptic encephalopathy


lipodystrophy due to peptidic growth factors deficiency


ulnar/fibula ray defect-brachydactyly syndrome


autosomal recessive ataxia due to PEX10 deficiency


Abnormal circulating phytanic acid concentration


Abnormal small intestinal villus morphology


Decreased CD4+ effector memory T cell proportion


Increased stool alpha1-antitrypsin concentration


Thyrotoxicosis with toxic multinodular goiter


Thyrotoxicosis with toxic single thyroid nodule


Decreased circulating IgG1 concentration


Reduced circulating transferrin concentration


Cushing syndrome due to macronodular adrenal hyperplasia


Abnormal response to corticotropin releasing hormone stimulation test


Microcephalic primordial dwarfism-insulin resistance syndrome


gallbladder neuroendocrine tumor, grade 1/2


kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome


congenital insensitivity to pain with severe intellectual disability


focal epithelial hyperplasia of the oral mucosa


Symptomatic form of HFE-related hemochromatosis


Increased circulating lipoprotein lipase concentration


Intracellular accumulation of autofluorescent lipopigment storage material


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


Focal sensory seizure with somatosensory features


ileal neuroendocrine tumor, well differentiated, low or intermediate grade


paraparetic variant of Guillain-Barre syndrome


Abnormality of the distal phalanx of the thumb


Uni- and bilateral multifocal epileptiform discharges


Calcification of the interosseus membrane of the forearm


Abnormal morphology of the chordae tendinae of the mitral valve


Abnormal tricuspid chordae tendinae morphology


maternally-inherited progressive external ophthalmoplegia


tenosynovial giant cell tumor, diffuse type


familial idiopathic steroid-resistant nephrotic syndrome


maternal uniparental disomy of chromosome 1


paternal uniparental disomy of chromosome 1


Abnormal retinal morphology on macular OCT


congenital myopathy with myasthenic-like onset


IgG4-related submandibular gland disease


Bilateral superior vena cava with bridging vein


homocystinuria without methylmalonic aciduria


sensorineural hearing loss-early graying-essential tremor syndrome


auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome


Periorbital ecchymosis with tarsal plate sparing


vitamin B12-unresponsive methylmalonic acidemia type mut0


malignant migrating partial seizures of infancy


Shortening of all middle phalanges of the toes


adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia


Abnormal circulating threonine concentration


Abnormal circulating arginine concentration


Abnormal circulating tyrosine concentration


Aplasia/Hypoplasia of the distal phalanx of the hallux


interstitial granulomatous dermatitis with arthritis


Stippling of the epiphysis of the distal phalanx of the thumb


Aplasia/Hypoplasia of the 1st metacarpal


acute generalized exanthematous pustulosis


Congenital myasthenic syndromes with glycosylation defect


Abnormal peripheral nervous system synaptic transmission


Favorable response of weakness to acetylcholine esterase inhibitors


autosomal dominant polycystic kidney disease


Abnormal small intestinal mucosa morphology


Abnormal large intestinal mucosa morphology


mitochondrial proton-transporting ATP synthase complex deficiency


AKT2-related familial partial lipodystrophy


continuous spikes and waves during sleep


female infertility due to oocyte meiotic arrest


benign paroxysmal tonic upgaze of childhood with ataxia


cerebellar ataxia-ectodermal dysplasia syndrome


IgG4-related dacryoadenitis and sialadenitis


symptomatic form of Coffin-Lowry syndrome in female carriers


limb transversal defect-cardiac anomaly syndrome


lower limb deficiency-hypospadias syndrome


proton-pump inhibitor-responsive esophageal eosinophilia


Increased anti-food allergen IgE antibody level


Eosinophilic microabscess formation in the esophagus


megalencephalic leukoencephalopathy with subcortical cysts


dysraphism-cleft lip/palate-limb reduction defects syndrome


marfanoid habitus-autosomal recessive intellectual disability syndrome


Abnormal phalangeal joint morphology of the hand


Anti-carbonic anhydrase II antibody positivity


Anti-centromere protein A antibody positivity


Anti-centromere protein B antibody positivity


Anti-nucleolus-organizing region antibody positivity


Anti-platelet derived growth factor receptor


Anti-angiotensin receptor type-1 antibody positivity


Anti-endothelin-1 type A receptor antibody positivity


Anti-angiotensin-converting enzyme 2 antibody positivity


Anti-voltage-gated potassium channel antibody positivity


arachnodactyly-abnormal ossification-intellectual disability syndrome


Absent epiphyses of the phalanges of the hand


Abnormal upper limb epiphysis morphology


Abnormal posterior eye segment morphology


Abnormal suspensory ligament of lens morphology


spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability


X-linked intellectual disability with isolated growth hormone deficiency


thrombocytopenia with congenital dyserythropoietic anemia


primary central nervous system vasculitis


Abnormality of peripheral somatosensory evoked potentials


aortic arch anomaly-facial dysmorphism-intellectual disability syndrome


Seizure precipitated by febrile infection


EEG with frontal epileptiform discharges


EEG with temporal epileptiform discharges


male infertility due to acephalic spermatozoa


hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome


acute encephalopathy with biphasic seizures and late reduced diffusion


intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome


dislocation of the hip-dysmorphism syndrome


peripheral motor neuropathy-dysautonomia syndrome


Triangular shaped distal phalanx of the thumb


Severe intellectual disability and progressive spastic paraplegia


spondyloepiphyseal dysplasia tarda, Kohn type


Abnormality of the joint spaces of the elbow


Deviation of the hand or of fingers of the hand


congenital cerebellar ataxia due to RNU12 mutation


pseudoleprechaunism syndrome, Patterson type


pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa


non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy


non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome


46,XX disorder of sex development-anorectal anomalies syndrome


pseudoxanthomatous diffuse cutaneous mastocytosis


metachromatic leukodystrophy, adult form


Ehlers-Danlos syndrome, musculocontractural type


Bullet-shaped distal phalanx of the hallux


polyneuropathy-intellectual disability-acromicria-premature menopause syndrome


chronic inflammatory demyelinating polyradiculoneuropathy


Anti-neurofascin 186 antibody positivity


Anti-contactin-associated protein 1 antibody positivity


intellectual disability syndrome due to a DYRK1A point mutation


Left aortic arch with right descending aorta and right ductus arteriosus


preaxial polydactyly-colobomata-intellectual disability syndrome


Bullet-shaped distal phalanges of the hand


autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome


segmental progressive overgrowth syndrome with fibroadipose hyperplasia


hereditary acrokeratotic poikiloderma, Weary type


autosomal recessive hypophosphatemic rickets


postaxial polydactyly-dental and vertebral anomalies syndrome


idiopathic chronic eosinophilic pneumonia


severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion


autosomal dominant progressive external ophthalmoplegia


intellectual disability-cardiac anomalies-short stature-joint laxity syndrome


DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion


autosomal recessive progressive external ophthalmoplegia


early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


familial papillary or follicular thyroid carcinoma


Anti-complement component C1q antibody positivity


Anti-phosphatidic acid antibody positivity


metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria


spondyloepimetaphyseal dysplasia, Handigodu type


familial or sporadic hemiplegic migraine


congenital-onset Steinert myotonic dystrophy


microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome


Atrophy/Degeneration affecting the central nervous system


Elevated circulating chitotriosidase activity


metachromatic leukodystrophy, late infantile form


X-linked intellectual disability due to GRIA3 mutations


multinodular goiter-cystic kidney-polydactyly syndrome


Noonan syndrome with multiple lentigines


POMGNT2-related limb-girdle muscular dystrophy R24


Decreased circulating lipoprotein lipase concentration


Aplasia/Hypoplasia of the phalanges of the thumb


autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect


Hereditary leiomyomatosis and renal cell cancer


central nervous system primitive neuroectodermal neoplasm


Abnormal circulating leucine concentration


Abnormal nasopharyngeal adenoid morphology


progressive non-infectious anterior vertebral fusion


CAR T cell therapy-associated cytokine release syndrome


distal 7q11.23 microduplication syndrome


distal myopathy with vocal cord weakness


Aplasia of the distal phalanx of the hallux


Aplasia/hypoplasia of the 1st metatarsal


reversible cerebral vasoconstriction syndrome


46,XX ovotesticular disorder of sex development


Anti-asialoglycoprotein receptor antibody positivity


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


congenital enterocyte heparan sulfate deficiency


dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome


Anterior predominant thick cortex pachygyria


Posterior predominant thick cortex pachygyria


autosomal dominant complex spastic paraplegia type 9B


Focal hyperintensity of cerebral white matter on MRI


chronic diarrhea due to glucoamylase deficiency


dysmorphism-pectus carinatum-joint laxity syndrome


pulmonary non-tuberculous mycobacterial infection


Mycobacterium abscessus abscessus infection


Increased number of elastic fibers in the dermis


Abnormal cutaneous collagen fibril morphology


famililal cerebral cavernous malformations


double uterus-hemivagina-renal agenesis syndrome


umbilical cord ulceration-intestinal atresia syndrome


Abnormal ventricular myocardium morphology


46,XY ovotesticular disorder of sex development


Linear Hyperpigmentation along Blaschko's lines


Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Aplasia/Hypoplasia of the phalanges of the 4th toe


Aplasia/Hypoplasia of the phalanges of the 5th toe


Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


Synostosis involving bones of the upper limbs


familial idiopathic dilatation of the right atrium


sporadic fetal brain disruption sequence


Abnormal circulating carnitine concentration


pterygium colli-intellectual disability-digital anomalies syndrome


Abnormality of the epiphysis of the distal phalanx of the thumb


LMNA-related cardiocutaneous progeria syndrome


disseminated superficial actinic porokeratosis


disorder of sex development-intellectual disability syndrome


Anti-epidermal transglutaminase antibody positivity


MAN1B1-congenital disorder of glycosylation


cerebellar ataxia, intellectual disability, and dysequilibrium


Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion


early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation


Abnormal circulating serine concentration


Abnormal glomerular visceral epithelial cell morphology


idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance


idiopathic non-lupus full-house nephropathy


corpus callosum agenesis-macrocephaly-hypertelorism syndrome


X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome


Stippling of the epiphyses of the distal phalanges of the hand


Decreased level of tissue plasminogen activator


Reduced plasminogen activator inhibitor 1 antigen


Progressive intervertebral space narrowing


Decreased circulating thyroxine-binding globulin concentration


transgrediens et progrediens palmoplantar keratoderma


autosomal dominant severe congenital neutropenia


EMG: repetitive nerve stimulation abnormality


Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta


vitamin B12-unresponsive methylmalonic acidemia type mut-


autoimmune primary adrenal insufficiency


chronic recurrent multifocal osteomyelitis


Uric acid urolithiasis independent of gout


Cortical subperiosteal resorption of humeral metaphyses


Idiopathic/heritable pulmonary arterial hypertension


X-linked intellectual disability-hypotonia-movement disorder syndrome


Abnormal circulating citrulline concentration


urinary bladder small cell neuroendocrine carcinoma


severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia


Abnormality of circulating catecholamine level


atypical progressive supranuclear palsy syndrome


progressive supranuclear palsy-corticobasal syndrome


infantile osteopetrosis with neuroaxonal dysplasia


metaphyseal dysplasia, Braun-Tinschert type


frontonasal dysplasia-bifid nose-upper limb anomalies syndrome


Decreased transitional B cell proportion


Contracture of the proximal interphalangeal joint of the 4th toe


facial onset sensory and motor neuronopathy


Reduced ratio of renal calcium clearance to creatinine clearance


Genetic hyperferritinemia without iron overload


hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome


intellectual disability-hyperkinetic movement-truncal ataxia syndrome


Blood pressure substantially higher in arms than legs


idiopathic steroid-sensitive nephrotic syndrome


congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization


dysmorphism-short stature-deafness-disorder of sex development syndrome


ichthyosis-intellectual disability-dwarfism-renal impairment syndrome


GJC2-related late-onset primary lymphedema


hypospadias-intellectual disability, Goldblatt type syndrome


immunodeficiency-centromeric instability-facial anomalies syndrome


hypotrichosis-intellectual disability, Lopes type


Non-caseating epithelioid cell granulomatosis


Fibulo-ulnar hypoplasia-renal anomalies syndrome


foveal hypoplasia-presenile cataract syndrome


cerebellar hypoplasia-tapetoretinal degeneration syndrome


Abnormal circulating alanine concentration


ulna hypoplasia-intellectual disability syndrome


hypogonadotropic hypogonadism-retinitis pigmentosa syndrome


male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome


hypogonadism-mitral valve prolapse-intellectual disability syndrome


Abnormal foveal morphology on macular OCT


infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome


sinus histiocytosis with massive lymphadenopathy


Hemophagocytic syndrome associated with an infection


Abnormal circulating pyruvate family amino acid concentration


maternal hyperthermia induced birth defects


dysplastic cortical hyperostosis, Kozlowski-Tsuruta type


Decreased urine alpha-ketoglutarate concentration


palmoplantar keratoderma-spastic paralysis syndrome


Increased urinary galactosylated oligosaccharide


short stature-advanced bone age-early-onset osteoarthritis syndrome


acquired hemophagocytic lymphohistiocytosis associated with malignant disease


hypotonia, infantile, with psychomotor retardation and characteristic facies


autosomal dominant spondylocostal dysostosis


acquired thrombotic thrombocytopenic purpura


combined immunodeficiency due to partial RAG1 deficiency


autosomal recessive cutis laxa type 2, classic type


alpha-N-acetylgalactosaminidase deficiency type 3


intellectual disability-facial dysmorphism-hand anomalies syndrome


Increased level of methylsuccinic acid in urine


XY type gonadal dysgenesis-associated anomalies syndrome


Increased stool urobilinogen concentration


dysmorphism-cleft palate-loose skin syndrome


facial dysmorphism-shawl scrotum-joint laxity syndrome


Skin-Hair-Eye Pigmentation, Variation In, 8


Skin-Hair-Eye Pigmentation, Variation In, 9


neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities


intellectual developmental disorder with polymicrogyria and seizures


neurodevelopmental disorder with speech or visual impairment and brain hypomyelination


leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical


neurodevelopmental disorder with microcephaly, absent speech, and hypotonia


epilepsy, idiopathic generalized, susceptibility to, 19


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16


B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


Skin/Hair/Eye Pigmentation, Variation In, 7


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18


hemophagocytic lymphohistiocytosis, familial, 6


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6


graft-versus-host disease, susceptibility to


MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5


INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC


asthma-related traits, susceptibility to, 1


asthma-related traits, susceptibility to, 2


breast-ovarian cancer, familial, susceptibility to, 4


HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS


myocardial infarction, susceptibility to


epilepsy, childhood absence, susceptibility to, 6


asthma-related traits, susceptibility to, 7


mitochondrial non-syndromic sensorineural hearing loss


pulmonary hypertension, neonatal, susceptibility to


nephrolithiasis, uric acid, susceptibility to


WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1


Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia


arthrogryposis multiplex congenita 7, X-linked


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17


spastic paraplegia 30b, autosomal recessive


multiple sclerosis, susceptibility to, 5


INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS


FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5


microvascular complications of diabetes, susceptibility to, 1


kallikrein, decreased urinary activity of


SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS


RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10


diabetes mellitus, noninsulin-dependent, 1


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3


neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4


efavirenz central nervous system toxicity, susceptibility to


PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS


taurodontism, microdontia, and dens invaginatus


systemic lupus erythematosus, susceptibility to, 9


coronary heart disease, susceptibility to, 7


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1


DRUG METABOLISM, ALTERED, CYP2C8-RELATED


ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO


coronary heart disease, susceptibility to, 1


ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


coronary heart disease, susceptibility to, 6


microvascular complications of diabetes, susceptibility to, 2


microvascular complications of diabetes, susceptibility to, 3


microvascular complications of diabetes, susceptibility to, 4


microvascular complications of diabetes, susceptibility to, 6


microvascular complications of diabetes, susceptibility to, 5


VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1


BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12


myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities


methylmalonic aciduria and homocystinuria, cb1L type


isolated methylmalonic aciduria cblD type


homocystinuria-megaloblastic anemia cblD type


anemia, congenital dyserythropoietic, type IVb


cholestasis, progressive familial intrahepatic, 13


multiple mitochondrial dysfunctions syndrome 10


myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2


neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities


ACTH-independent macronodular adrenal hyperplasia-3


diabetes mellitus, noninsulin-dependent, 5


BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1


epilepsy, idiopathic generalized, susceptibility to, 13


arterial tortuosity-bone fragility syndrome


spastic paraplegia 92, autosomal recessive


glaucoma, normal tension, susceptibility to


Parkinson disease 26, autosomal dominant, susceptibility to


multiple mitochondrial dysfunctions syndrome 9b


neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1


systemic lupus erythematosus, susceptibility to, 1


BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12


asthma-related traits, susceptibility to, 5


autoimmune disease, susceptibility to, 6


FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6


systemic lupus erythematosus, susceptibility to, 10


systemic lupus erythematosus, susceptibility to, 11


LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6


Skin-Hair-Eye Pigmentation, Variation In, 10


non-classic congenital lipoid adrenal hyperplasia due to STAR deficency


reticular dystrophy of the retinal pigment epithelium


multifocal pattern dystrophy simulating fundus flavimaculatus


Duane retraction syndrome with congenital deafness


KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome


complete atrioventricular canal-ventricle hypoplasia syndrome


complete atrioventricular canal-tetralogy of fallot syndrome


bleeding diathesis due to thromboxane synthesis deficiency


EMILIN-1-related connective tissue disease


congenitally uncorrected transposition of the great arteries with coarctation


isolated autosomal dominant hypomagnesemia, Glaudemans type


diffuse palmoplantar keratoderma with painful fissures


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency


autosomal dominant non-syndromic intellectual disability


acute megakaryoblastic leukemia in down syndrome


SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome


SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome


autosomal dominant nonsyndromic hearing loss


craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome


intellectual disability-early-onset cataract-microcephaly syndrome


hereditary angioedema with normal C1inh not related to F12 or PLG variant


IL10-related early-onset inflammatory bowel disease


acute necrotizing encephalopathy of childhood


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia


hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation


precursor T-cell acute lymphoblastic leukemia


lethal hydranencephaly-diaphragmatic hernia syndrome


high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement


SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome


symptomatic form of hemophilia B in female carriers


palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form


MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome


combined immunodeficiency due to TBX1 deficiency


benign epithelial tumor of salivary glands


malignant epithelial tumor of salivary glands


multiple paragangliomas associated with polycythemia


T-cell immunodeficiency with epidermodysplasia verruciformis


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


myeloid neoplasm associated with PDGFRA rearrangement


intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome


PLG-related hereditary angioedema with normal C1inh


myeloid neoplasm associated with PDGFRB rearrangement


myeloid neoplasm associated with FGFR1 rearrangement


unilateral multicystic dysplastic kidney


autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


isolated focal cortical dysplasia type IIa


chronic respiratory distress with surfactant metabolism deficiency


lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation


lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster


prenatal-onset spinal muscular atrophy with congenital bone fractures


autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency


malignant Sertoli-Leydig cell tumor of ovary


heritable pulmonary arterial hypertension


drug- or toxin-induced pulmonary arterial hypertension


autosomal recessive secondary polycythemia not associated with VHL gene


Okihiro syndrome due to a point mutation


Okihiro syndrome due to 20q13 microdeletion


autosomal recessive sideroblastic anemia


biliary atresia with splenic malformation syndrome


distal hereditary motor neuropathy type 2


mucopolysaccharidosis type 6, rapidly progressing


Alagille syndrome due to 20p12 microdeletion


mucopolysaccharidosis type 6, slowly progressing


B-lymphoblastic leukemia/lymphoma with t(17;19)


B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)


congenital hereditary facial paralysis-variable hearing loss syndrome


distal hereditary motor neuropathy type 7


familial gastric type 1 neuroendocrine tumor


CELSR1-related late-onset primary lymphedema


autosomal recessive hyperinsulinism due to SUR1 deficiency


autosomal dominant Charcot-Marie-Tooth disease type 2M


paroxysmal familial ventricular fibrillation


sickle cell-hemoglobin E disease syndrome


sickle cell-hemoglobin d disease syndrome


sickle cell-hemoglobin c disease syndrome


autosomal dominant rhegmatogenous retinal detachment


porokeratotic eccrine ostial and dermal duct nevus


autosomal recessive ataxia due to PEX2 deficiency


microcephaly-short stature-intellectual disability-facial dysmorphism syndrome


hereditary thrombocytosis with transverse limb defect


autosomal recessive epidermolytic ichthyosis


c11orf73-related autosomal recessive hypomyelinating leukodystrophy


spastic ataxia-dysarthria due to glutaminase deficiency


Niemann-Pick disease type C, severe perinatal form


Niemann-Pick disease type C, severe early infantile neurologic onset


vitamin B12-responsive methylmalonic acidemia, type cblDv2


Niemann-Pick disease type C, late infantile neurologic onset


desmin-related myopathy with Mallory body-like inclusions


autosomal recessive ataxia due to PEX16 deficiency


focal epilepsy-intellectual disability-cerebro-cerebellar malformation


Niemann-Pick disease type C, adult neurologic onset


Niemann-Pick disease type C, juvenile neurologic onset


B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)


B-lymphoblastic leukemia/lymphoma with hyperdiploidy


familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome


B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)


B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)


B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)


partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome


B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)


growth retardation-mild developmental delay-chronic hepatitis syndrome


MME-related autosomal dominant Charcot Marie Tooth disease type 2


hereditary motor and sensory neuropathy type 6


severe early-onset axonal neuropathy due to MFN2 deficiency


fatal post-viral neurodegenerative disorder


autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain


isolated Dandy-Walker malformation with hydrocephalus


isolated Dandy-Walker malformation without hydrocephalus


generalized galactose epimerase deficiency


Leydig cell hypoplasia due to partial LH resistance


infantile-onset mesial temporal lobe epilepsy with severe cognitive regression


Leydig cell hypoplasia due to complete LH resistance


progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome


erythrocyte galactose epimerase deficiency


FASTKD2-related infantile mitochondrial encephalomyopathy


isolated micronodular adrenocortical disease


isolated primary pigmented nodular adrenocortical disease


F12-associated cold autoinflammatory syndrome


progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN


nodular sclerosis classical Hodgkin lymphoma


hereditary neuroendocrine tumor of small intestine


severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome


primary mediastinal large B-cell lymphoma


acute myeloblastic leukemia without maturation


acute myeloblastic leukemia with maturation


acute myeloid leukemia with 11q23 abnormalities


acute myeloid leukemia with minimal differentiation


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality


acute myeloid leukemia with multilineage dysplasia


acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)


atypical chronic myeloid leukemia, BCR-ABL1 negative


immunodeficiency due to a classical component pathway complement deficiency


immunodeficiency due to a late component of complement deficiency


congenital dyserythropoietic anemia type 1


X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome


T-cell large granular lymphocyte leukemia


acute megakaryoblastic leukemia without down syndrome


atypical hemolytic uremic syndrome with complement gene abnormality


mesomelic dysplasia-digital anomalies-intellectual disability syndrome


chronic lymphoproliferative disorder of NK-cells


non-syndromic non-specific multisutural craniosynostosis


COQ7-related distal hereditary motor neuropathy


multiple acyl-CoA dehydrogenase deficiency, mild type


multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


hereditary sensorimotor neuropathy with hyperelastic skin


early-onset posterior subcapsular cataract


familial isolated arrhythmogenic ventricular dysplasia, biventricular form


breast implant-associated anaplastic large cell lymphoma


TRIM22-related inflammatory bowel disease


non-syndromic X-linked intellectual disability


Hermansky-Pudlak syndrome without pulmonary fibrosis


linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome with pulmonary fibrosis


autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation


testicular non-seminomatous germ cell tumor


familial hyperinflammatory lymphoproliferative immunodeficiency


glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form


autosomal dominant combined immunodeficiency due to ERBIN deficiency


short rib-polydactyly syndrome, Majewski type


glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form


adult-onset progressive leukoencephalopathy-early-onset deafness


glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form


autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome


congenitally uncorrected transposition of the great arteries with cardiac malformation


glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form


MIT family translocation renal cell carcinoma


immune deficiency due to impaired neutrophil phagocytosis and migration


glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form


isolated congenitally uncorrected transposition of the great arteries


reticular dysgenesis-like severe combined immunodeficiency


glycogen storage disease due to acid maltase deficiency, late-onset


familial isolated arrhythmogenic ventricular dysplasia, right dominant form


diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency


familial progressive hyper- and hypopigmentation


congenital autosomal recessive small-platelet thrombocytopenia


temperature-sensitive oculocutaneous albinism type 1


Tay-Sachs disease, b variant, infantile form


mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)


HTRA1-related autosomal dominant cerebral small vessel disease


GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


Tay-Sachs disease, B variant, adult form


kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome


mixed phenotype acute leukemia with t(v;11q23.3)


Tay-Sachs disease, b variant, juvenile form


familial isolated hypoparathyroidism due to impaired PTH secretion


clear cell papillary renal cell carcinoma


glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form


myelodysplastic syndrome with excess blasts-2


thiamine-responsive maple syrup urine disease


familial clubfoot due to 5q31 microdeletion


spinal muscular atrophy with respiratory distress type 2


myelodysplastic syndrome with excess blasts-1


skin fragility-woolly hair-palmoplantar keratoderma syndrome


familial clubfoot due to PITX1 point mutation


atypical Fanconi syndrome-neonatal hyperinsulinism syndrome


short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation


combined immunodeficiency due to RELA haploinsufficiency


diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency


brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation


hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome


pyruvate carboxylase deficiency, benign type


orofacial clefting-cardiac anomalies-facial dysmorphism syndrome


mitochondrial complex IV deficiency, nuclear-type


renal tubulopathy-encephalopathy-liver failure syndrome


autosomal recessive extra-oral halitosis


acute myeloid leukemia with t(8;21)(q22;q22) translocation


medulloblastoma with extensive nodularity


developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation


congenital insensitivity to pain syndrome, Marsili type


pyruvate carboxylase deficiency, severe neonatal type


pyruvate carboxylase deficiency, infantile form


mitochondrial DNA depletion syndrome, hepatocerebrorenal form


inflammatory bowel disease-recurrent sinopulmonary infections syndrome


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


periodic paralysis with later-onset distal motor neuropathy


CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome


glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form


mucopolysaccharidosis type 2, attenuated form


autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome


acute myeloid leukemia with NPM1 somatic mutations


acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)


megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)


early-onset calcifying leukoencephalopathy-skeletal dysplasia


childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome


mucopolysaccharidosis type 2, severe form


autosomal recessive combined immunodeficiency due to IL6R deficiency


autosomal recessive distal renal tubular acidosis


congenital or early infantile CACH syndrome


progressive dementia with neuroserpin inclusion bodies


autosomal recessive combined immunodeficiency due to partial IL6ST deficiency


autosomal dominant combined immunodeficiency due to partial IL6ST deficiency


EGF-related primary hypomagnesemia with intellectual disability


early-onset autoimmune disorder due to DOCK11 partial deficiency


primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome


early-onset immune dysregulation due to DOCK11 complete deficiency


Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation


acute myeloid leukemia with CEBPA somatic mutations


cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome


autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation


juvenile-onset Steinert myotonic dystrophy


primary cutaneous anaplastic large cell lymphoma


childhood-onset Steinert myotonic dystrophy


congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome


congenital vertebral-cardiac-renal anomalies syndrome


ALK-positive anaplastic large cell lymphoma


intermediate collagen VI-related muscular dystrophy


acute myeloid leukemia with t(9;11)(p22;q23)


acute myeloid leukemia with t(6;9)(p23;q34)


susceptibility to localized juvenile periodontitis


chronic enteropathy associated with SLCO2A1 gene


glaucoma secondary to spherophakia/ectopia lentis and megalocornea


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency


Phelan-McDermid syndrome due to 22q13.3 deletion


childhood-onset autosomal recessive myopathy with external ophthalmoplegia


Phelan-McDermid syndrome due to SHANK3 mutation


X-linked severe syndromic thoracic aortic aneurysm and dissection


autosomal recessive severe congenital neutropenia due to CXCR2 deficiency


cryptogenic multifocal ulcerous stenosing enteritis


SBDS-related severe neonatal spondylometaphyseal dysplasia


atypical hemolytic-uremic syndrome with DGKE deficiency


focal palmoplantar keratoderma with joint keratoses


hereditary persistence of fetal hemoglobin-intellectual disability syndrome


congenital generalized hypercontractile muscle stiffness syndrome


resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha


CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome


diaphragmatic hernia-short bowel-asplenia syndrome


NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance


congenital vitamin K-dependent coagulation factors deficiency


autosomal recessive combined immunodeficiency due to complete IL6ST deficiency


glycerol kinase deficiency, juvenile form


2p21 microdeletion syndrome without cystinuria


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency


atypical dentin dysplasia due to SMOC2 deficiency


MYO5B-related progressive familial intrahepatic cholestasis


lethal arteriopathy syndrome due to fibulin-4 deficiency


intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome


microcephaly-complex motor and sensory axonal neuropathy syndrome


EPHB4-related lymphatic-related hydrops fetalis


KLHL7-related cold-induced sweating-like syndrome


hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome


anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome


early-onset obesity-hyperphagia-severe developmental delay syndrome


SFTPC- related interstitial lung disease


genetic central precocious puberty in male


GNAO1-related developmental delay-seizures-movement disorder spectrum


neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency


genetic central precocious puberty in female


autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation


X-linked Mendelian susceptibility to mycobacterial diseases


TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome


spondyloepimetaphyseal dysplasia, Isidor type


hereditary clear cell renal cell carcinoma


acute myeloid leukemia with t(8;16)(p11;p13) translocation


Low maternal circulating estriol concentration


Elevated maternal circulating alpha-fetoprotein concentration


Genetic anticipation with paternal anticipation bias


High maternal circulating chorionic gonadotropin concentration