disease  17143 rec.
   |__disease by infectious agent 475 rec.
   |   |__bacterial infectious disease(+) 39 rec.
   |   |__fungal infectious disease(+) 48 rec.
   |   |__parasitic infectious disease(+) 2 rec.
   |   |__prion disease(+) 90 rec.
   |   |__viral infectious disease(+) 300 rec.
   |__disease of anatomical entity 12437 rec.
   |   |__breast disease(+) 17 rec.
   |   |__cardiovascular system disease(+) 800 rec.
   |   |__endocrine system disease(+) 386 rec.
   |   |__gastrointestinal system disease(+) 577 rec.
   |   |__hematopoietic system disease(+) 614 rec.
   |   |__immune system disease(+) 205 rec.
   |   |__integumentary system disease(+) 246 rec.
   |   |__musculoskeletal system disease(+) 1370 rec.
   |   |__nervous system disease(+) 9628 rec.
   |   |__reproductive system disease(+) 345 rec.
   |   |__respiratory system disease(+) 99 rec.
   |   |__thoracic disease(+) 657 rec.
   |   |__urinary system disease(+) 356 rec.
   |__disease of cellular proliferation 2903 rec.
   |   |__benign neoplasm(+) 70 rec.
   |   |__cancer(+) 2873 rec.
   |   |__pre-malignant neoplasm(+)
   |__disease of mental health 1597 rec.
   |   |__adjustment disorder
   |   |__cognitive disorder(+) 296 rec.
   |   |__developmental disorder of mental health(+) 1045 rec.
   |   |__dissociative disorder(+)
   |   |__eating disorder(+)
   |   |__factitious disorder(+)
   |   |__impulse control disorder(+)
   |   |__personality disorder(+)
   |   |__sexual health disorder(+)
   |   |__sleep disorder(+) 23 rec.
   |   |__somatoform disorder(+)
   |   |__substance-related disorder(+) 273 rec.
   |__disease of metabolism 2078 rec.
   |   |__acquired metabolic disease(+) 246 rec.
   |   |__amyloidosis(+) 61 rec.
   |   |__inherited metabolic disorder(+) 1849 rec.
   |__genetic disease 8304 rec.
   |   |__chromosomal disease(+) 190 rec.
   |   |__inherited metabolic disorder(+) 1849 rec.
   |   |__monogenic disease(+) 7473 rec.
   |   |__polygenic disease(+) 263 rec.
   |__physical disorder 945 rec.
   |   |__agnathia-otocephaly complex 1 rec.
   |   |__arthrogryposis multiplex congenita(+) 5 rec.
   |   |__autosomal dominant congenital deafness with onychodystrophy 1 rec.
   |   |__autosomal recessive congenital ichthyosis(+) 45 rec.
   |   |__bladder exstrophy-epispadias-cloacal exstrophy complex(+)
   |   |__blepharophimosis
   |   |__caudal regression syndrome
   |   |__cleft palate-lateral synechia syndrome
   |   |__Compton-North congenital myopathy 1 rec.
   |   |__congenital adrenal hyperplasia 15 rec.
   |   |__congenital adrenal insufficiency 11 rec.
   |   |__congenital afibrinogenemia 4 rec.
   |   |__congenital amegakaryocytic thrombocytopenia(+)
   |   |__congenital aphakia 3 rec.
   |   |__congenital bilateral absence of vas deferens(+) 5 rec.
   |   |__congenital bile acid synthesis defect(+) 10 rec.
   |   |__congenital central hypoventilation syndrome 2 rec.
   |   |__congenital chylothorax
   |   |__congenital contractural arachnodactyly 2 rec.
   |   |__congenital diaphragmatic hernia 1 rec.
   |   |__congenital diarrhea(+) 5 rec.
   |   |__congenital disorder of glycosylation(+) 91 rec.
   |   |__congenital epulis
   |   |__congenital fibrosarcoma
   |   |__congenital fibrosis of the extraocular muscles(+) 8 rec.
   |   |__congenital generalized lipodystrophy(+) 22 rec.
   |   |__congenital granular cell tumor
   |   |__congenital heart block
   |   |__congenital heart defects, hamartomas of tongue, and polysyndactyly 1 rec.
   |   |__congenital heart disease(+) 139 rec.
   |   |__congenital hemolytic anemia(+) 34 rec.
   |   |__congenital hereditary endothelial dystrophy of cornea 2 rec.
   |   |__congenital hypogammaglobulinemia
   |   |__congenital hypoplastic anemia(+) 51 rec.
   |   |__congenital hypothyroidism(+) 30 rec.
   |   |__congenital hypotrichosis with juvenile macular dystrophy
   |   |__congenital intrinsic factor deficiency 1 rec.
   |   |__congenital lactase deficiency 1 rec.
   |   |__congenital leptin deficiency 5 rec.
   |   |__congenital megabladder 1 rec.
   |   |__congenital mesoblastic nephroma(+)
   |   |__congenital mirror movement disorder(+) 6 rec.
   |   |__congenital muscular dystrophy(+) 66 rec.
   |   |__congenital myasthenic syndrome(+) 33 rec.
   |   |__congenital myopathy 4A(+) 4 rec.
   |   |__congenital nervous system abnormality(+) 149 rec.
   |   |__congenital nystagmus(+) 8 rec.
   |   |__congenital ptosis(+)
   |   |__congenital secretory chloride diarrhea 1 1 rec.
   |   |__congenital secretory sodium diarrhea 3 1 rec.
   |   |__congenital secretory sodium diarrhea 8 1 rec.
   |   |__congenital stationary night blindness(+) 23 rec.
   |   |__congenital stromal corneal dystrophy 1 rec.
   |   |__congenital structural myopathy(+) 25 rec.
   |   |__congenital sucrase-isomaltase deficiency 1 rec.
   |   |__congenital syphilis(+)
   |   |__congenital toxoplasmosis
   |   |__congenital vertical talus 1 rec.
   |   |__cryptophthalmia(+) 1 rec.
   |   |__developmental cardiac valvular defect 1 rec.
   |   |__epidermolysis bullosa with congenital localized absence of skin and deformity of nails
   |   |__gastroschisis
   |   |__Gollop-Wolfgang complex
   |   |__hypospadias 1 rec.
   |   |__imperforate anus
   |   |__Klippel-Feil syndrome(+) 2 rec.
   |   |__large congenital melanocytic nevus 1 rec.
   |   |__laryngomalacia
   |   |__Leber congenital amaurosis(+) 34 rec.
   |   |__lethal congenital contracture syndrome(+) 4 rec.
   |   |__lethal congenital glycogen storage disease of heart 1 rec.
   |   |__linear skin defects with multiple congenital anomalies 1 1 rec.
   |   |__linear skin defects with multiple congenital anomalies 2
   |   |__linear skin defects with multiple congenital anomalies 3 1 rec.
   |   |__Meckel's diverticulum
   |   |__multiple congenital anomalies-hypotonia-seizures syndrome(+) 15 rec.
   |   |__myotonia congenita(+) 16 rec.
   |   |__neonatal diabetes mellitus with congenital hypothyroidism 1 rec.
   |   |__neural tube defect(+) 17 rec.
   |   |__non-congenital cyst of kidney
   |   |__nonsyndromic congenital nail disorder(+) 3 rec.
   |   |__omphalocele
   |   |__orofacial cleft(+) 16 rec.
   |   |__palmoplantar keratoderma and congenital alopecia 1
   |   |__palmoplantar keratoderma and congenital alopecia 2
   |   |__pancreatic hypoplasia-diabetes-congenital heart disease syndrome 3 rec.
   |   |__Poland syndrome
   |   |__polydactyly(+) 1 rec.
   |   |__primary congenital glaucoma(+) 3 rec.
   |   |__radioulnar synostosis 1 rec.
   |   |__rapidly involuting congenital hemangioma
   |   |__renal-hepatic-pancreatic dysplasia 1 rec.
   |   |__severe congenital encephalopathy due to MECP2 mutation 2 rec.
   |   |__severe congenital neutropenia(+) 17 rec.
   |   |__Silver-Russell syndrome
   |   |__spondyloepiphyseal dysplasia with congenital joint dislocations 2 rec.
   |   |__T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 rec.
   |   |__TORCH syndrome
   |   |__visceral heterotaxy(+) 17 rec.
   |   |__Zika virus congenital syndrome 16 rec.
   |__syndrome 1762 rec.
       |__3-M syndrome 3 rec.
       |__3MC syndrome(+) 13 rec.
       |__Aagenaes syndrome
       |__Aarskog syndrome(+) 1 rec.
       |__ABCD syndrome
       |__abdominal obesity-metabolic syndrome(+) 5 rec.
       |__ablepharon macrostomia syndrome 1 rec.
       |__Abruzzo-Erickson syndrome 6 rec.
       |__achalasia microcephaly syndrome
       |__Achard syndrome
       |__acrocallosal syndrome 2 rec.
       |__acrocardiofacial syndrome
       |__acrorenal syndrome
       |__Adams-Oliver syndrome(+) 9 rec.
       |__Adie syndrome
       |__ADULT syndrome 1 rec.
       |__agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1 rec.
       |__Aicardi syndrome
       |__Aicardi-Goutieres syndrome 7 rec.
       |__Alkuraya-Kucinskas syndrome 1 rec.
       |__Allan-Herndon-Dudley syndrome 2 rec.
       |__alopecia, neurologic defects, and endocrinopathy syndrome 1 rec.
       |__alopecia-mental retardation syndrome(+)
       |__alpha-thalassemia myelodysplasia syndrome 2 rec.
       |__Alport syndrome(+) 2 rec.
       |__Alstrom syndrome
       |__AMED syndrome 1 rec.
       |__AMME complex
       |__Angelman syndrome 14 rec.
       |__anterior spinal artery syndrome
       |__Antley-Bixler syndrome with disordered steroidogenesis 1 rec.
       |__aplasia of lacrimal and salivary glands 1 rec.
       |__ARC syndrome(+) 8 rec.
       |__autoimmune interstitial lung, joint, and kidney disease 1 rec.
       |__autosomal dominant congenital deafness with onychodystrophy 1 rec.
       |__autosomal dominant keratitis-ichthyosis-deafness syndrome
       |__Ayme-Gripp syndrome 1 rec.
       |__Bainbridge-Ropers syndrome 1 rec.
       |__Baraitser-Winter syndrome(+) 7 rec.
       |__Barber-Say syndrome 1 rec.
       |__Bardet-Biedl syndrome(+) 20 rec.
       |__Barre-Lieou syndrome
       |__Bart-Pumphrey syndrome
       |__basilar artery insufficiency
       |__Beare-Stevenson cutis gyrata syndrome 2 rec.
       |__Beckwith-Wiedemann syndrome 1 rec.
       |__Beemer-Langer syndrome
       |__Birk-Barel syndrome 1 rec.
       |__Bjornstad syndrome 1 rec.
       |__Blau syndrome
       |__blepharocheilodontic syndrome(+) 2 rec.
       |__blepharophimosis, ptosis, and epicanthus inversus syndrome 2 rec.
       |__blepharophimosis-impaired intellectual development syndrome 1 rec.
       |__Bloom syndrome 17 rec.
       |__Bosch-Boonstra-Schaaf optic atrophy syndrome 1 rec.
       |__Boucher-Neuhauser syndrome 5 rec.
       |__Bowen-Conradi syndrome 1 rec.
       |__brachycephaly, trichomegaly, and developmental delay 3 rec.
       |__brachydactyly-syndactyly syndrome
       |__brachyolmia-amelogenesis imperfecta syndrome 2 rec.
       |__branchiooculofacial syndrome 1 rec.
       |__branchiootic syndrome 3 rec.
       |__branchiootorenal syndrome(+) 7 rec.
       |__breast implant illness
       |__Brown-Vialetto-Van Laere syndrome(+) 5 rec.
       |__Bruck syndrome 4 rec.
       |__Brunet-Wagner neurodevelopmental syndrome 3 rec.
       |__Burn-McKeown syndrome 1 rec.
       |__Buschke-Ollendorff syndrome 1 rec.
       |__C syndrome
       |__camptodactyly-arthropathy-coxa vara-pericarditis syndrome
       |__camptodactyly-tall stature-scoliosis-hearing loss syndrome 1 rec.
       |__cardiovascular-kidney-metabolic syndrome
       |__Carey-Fineman-Ziter syndrome(+) 1 rec.
       |__Carney complex 2 rec.
       |__Carney-Stratakis syndrome 5 rec.
       |__Caroli syndrome
       |__CASGID syndrome 1 rec.
       |__Cauda equina syndrome
       |__CEDNIK syndrome 3 rec.
       |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome(+) 4 rec.
       |__cerebellar atrophy, visual impairment, and psychomotor retardation 10 rec.
       |__cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 4 rec.
       |__cerebellofaciodental syndrome 1 rec.
       |__cerebrocostomandibular syndrome 1 rec.
       |__CHARGE syndrome 6 rec.
       |__Chediak-Higashi syndrome 8 rec.
       |__CHILD syndrome 1 rec.
       |__CHIME syndrome 1 rec.
       |__chondrodysplasia punctata(+) 18 rec.
       |__chondrodysplasia-pseudohermaphroditism syndrome 1 rec.
       |__chronic atrial and intestinal dysrhythmia
       |__chronic fatigue syndrome
       |__ciliopathy(+) 84 rec.
       |__cleft lip-palate-ectodermal dysplasia syndrome
       |__cleft palate, cardiac defects, and intellectual disability 1 rec.
       |__CLOVES syndrome 1 rec.
       |__COACH syndrome 1 rec.
       |__Cockayne syndrome(+) 10 rec.
       |__CODAS syndrome 5 rec.
       |__Coffin-Lowry syndrome 3 rec.
       |__Coffin-Siris syndrome(+) 32 rec.
       |__Cohen syndrome 1 rec.
       |__cold-induced sweating syndrome(+) 6 rec.
       |__congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 rec.
       |__congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 rec.
       |__congenital heart defects, hamartomas of tongue, and polysyndactyly 1 rec.
       |__congenital leptin deficiency 5 rec.
       |__congenital limbs-face contractures-hypotonia-developmental delay syndrome 1 rec.
       |__contractures, pterygia, and spondylocarpotarsal fusion syndrome(+) 11 rec.
       |__corneal dystrophy-perceptive deafness syndrome 2 rec.
       |__Cornelia de Lange syndrome(+) 18 rec.
       |__corpus callosum agenesis-abnormal genitalia syndrome 3 rec.
       |__cranioectodermal dysplasia(+) 4 rec.
       |__craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome(+) 2 rec.
       |__craniofacial-deafness-hand syndrome 5 rec.
       |__craniofrontonasal syndrome 1 rec.
       |__craniolenticulosutural dysplasia 1 rec.
       |__CREST syndrome
       |__Cri-Du-Chat syndrome
       |__Crouzon syndrome-acanthosis nigricans syndrome 1 rec.
       |__Culler-Jones syndrome 1 rec.
       |__Currarino syndrome 3 rec.
       |__cystic fibrosis 28 rec.
       |__deafness, dystonia, and cerebral hypomyelination 1 rec.
       |__Denys-Drash syndrome 1 rec.
       |__DeSanto-Shinawi syndrome 3 rec.
       |__developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
       |__dialysis disequilibrium syndrome
       |__DICER1 syndrome 2 rec.
       |__diffuse infiltrative lymphocytosis syndrome
       |__DiGeorge syndrome 8 rec.
       |__dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 2 rec.
       |__dominant optic atrophy plus syndrome 5 rec.
       |__Donnai-Barrow syndrome 1 rec.
       |__Donohue syndrome 4 rec.
       |__DOORS syndrome 8 rec.
       |__Duane-radial ray syndrome 1 rec.
       |__Dubowitz syndrome
       |__dysplastic nevus syndrome
       |__EAST syndrome 11 rec.
       |__ectodermal dysplasia(+) 19 rec.
       |__EEC syndrome(+) 1 rec.
       |__Ellis-Van Creveld syndrome
       |__Elsahy-Waters syndrome 1 rec.
       |__encephalopathy due to defective mitochondrial and peroxisomal fission 1 8 rec.
       |__encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 rec.
       |__endocrine-cerebro-osteodysplasia syndrome 1 rec.
       |__epidermolysis bullosa simplex with muscular dystrophy 1 rec.
       |__Fanconi-like syndrome
       |__Feingold syndrome 1 rec.
       |__fetal akinesia deformation sequence syndrome(+) 3 rec.
       |__fetal encasement syndrome 1 rec.
       |__fetal valproate syndrome
       |__FG syndrome 5 rec.
       |__fibrogenesis imperfecta ossium
       |__fibromyalgia
       |__Filippi syndrome
       |__Floating-Harbor syndrome 1 rec.
       |__focal dermal hypoplasia 1 rec.
       |__fragile X syndrome 116 rec.
       |__Fraser syndrome(+) 4 rec.
       |__Frasier syndrome 1 rec.
       |__frontonasal dysplasia(+) 2 rec.
       |__Fuchs' heterochromic uveitis
       |__Galloway-Mowat syndrome(+) 17 rec.
       |__Gamstorp-Wohlfart syndrome 1 rec.
       |__GAPO syndrome
       |__geroderma osteodysplasticum 2 rec.
       |__Ghosal hematodiaphyseal syndrome 13 rec.
       |__Gillespie syndrome 1 rec.
       |__Goldberg-Shprintzen syndrome 1 rec.
       |__Goldenhar syndrome 1 rec.
       |__Gorham's disease
       |__growth hormone insensitivity syndrome with immune dysregulation 1 1 rec.
       |__growth hormone insensitivity syndrome with immune dysregulation 2 1 rec.
       |__Guttmacher syndrome
       |__Hallermann-Streiff syndrome
       |__Halperin-Birk syndrome 3 rec.
       |__hamartoma syndrome(+) 38 rec.
       |__hand-foot-genital syndrome
       |__Harel-Yoon syndrome 11 rec.
       |__Hengel-Maroofian-Schols syndrome 4 rec.
       |__hepatic venoocclusive disease with immunodeficiency
       |__hereditary alpha tryptasemia syndrome
       |__hereditary arterial and articular multiple calcification syndrome 5 rec.
       |__hereditary breast ovarian cancer syndrome
       |__hereditary desmoid disease 1 rec.
       |__Hermansky-Pudlak syndrome(+) 35 rec.
       |__high myopia-sensorineural deafness syndrome 1 rec.
       |__histiocytosis-lymphadenopathy plus syndrome 3 rec.
       |__holoprosencephaly(+) 12 rec.
       |__Holt-Oram syndrome 1 rec.
       |__Holzgreve-Wagner-Rehder Syndrome
       |__hydrolethalus syndrome(+) 5 rec.
       |__hyperferritinemia-cataract syndrome 3 rec.
       |__hypertelorism, microtia, facial clefting syndrome
       |__hypertension and brachydactyly syndrome 2 rec.
       |__hypoparathyroidism-retardation-dysmorphism syndrome 10 rec.
       |__hypophosphatasia(+) 7 rec.
       |__hypoplastic or aplastic tibia with polydactyly
       |__hypotonia, ataxia, and delayed development syndrome 5 rec.
       |__hypotonia-cystinuria syndrome
       |__hypotrichosis-lymphedema-telangiectasia syndrome 1 rec.
       |__hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1 rec.
       |__ichthyosis follicularis-alopecia-photophobia syndrome 1 1 rec.
       |__IGSF1 deficiency syndrome
       |__IMAGe syndrome 5 rec.
       |__immunodeficiency-centromeric instability-facial anomalies syndrome(+) 2 rec.
       |__inclusion body myopathy with Paget disease of bone and frontotemporal dementia(+) 53 rec.
       |__infantile liver failure syndrome(+) 1 rec.
       |__intellectual developmental disorder with cardiac arrhythmia 1 rec.
       |__intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 rec.
       |__intellectual developmental disorder with short stature and behavioral abnormalities 7 rec.
       |__intellectual disability and myopathy syndrome 11 rec.
       |__IVIC syndrome 1 rec.
       |__Jackson-Weiss syndrome 2 rec.
       |__Jalili syndrome 1 rec.
       |__Johanson-Blizzard syndrome 1 rec.
       |__juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1 rec.
       |__Kabuki syndrome 3 rec.
       |__Kagami-Ogata syndrome
       |__Kahrizi syndrome 1 rec.
       |__KBG syndrome 1 rec.
       |__Keipert syndrome 1 rec.
       |__Kenny-Caffey syndrome(+) 1 rec.
       |__KINSSHIP syndrome 1 rec.
       |__Kleefstra syndrome(+) 9 rec.
       |__Klippel-Feil syndrome(+) 2 rec.
       |__Klippel-Trenaunay syndrome
       |__Kohlschutter-Tonz syndrome 18 rec.
       |__Koolen de Vries syndrome 3 rec.
       |__LADD syndrome(+) 3 rec.
       |__Laron syndrome
       |__Larsen syndrome 3 rec.
       |__Larsen-like syndrome B3GAT3 type 3 rec.
       |__lateral meningocele syndrome 1 rec.
       |__Laurence-Moon syndrome 1 rec.
       |__Leber plus disease(+)
       |__Lenz-Majewski hyperostotic dwarfism 1 rec.
       |__lethal congenital contracture syndrome(+) 4 rec.
       |__Li-Fraumeni syndrome(+) 3 rec.
       |__linear nevus sebaceous syndrome 1 rec.
       |__Loeys-Dietz syndrome(+) 6 rec.
       |__Lown-Ganong-Levine syndrome
       |__lymphedema-distichiasis syndrome 1 rec.
       |__Lynch syndrome(+) 5 rec.
       |__macrocephaly-autism syndrome 2 rec.
       |__Maffucci syndrome
       |__mandibulofacial dysostosis with alopecia
       |__mandibulofacial dysostosis, Guion-Almeida type 1 rec.
       |__Marinesco-Sjogren syndrome 1 rec.
       |__Marshall-Smith syndrome 1 rec.
       |__Marsili syndrome 1 rec.
       |__Martsolf syndrome 1 rec.
       |__Mayer-Rokitansky-Kuster-Hauser syndrome(+)
       |__McCune Albright syndrome 2 rec.
       |__McKusick-Kaufman syndrome
       |__median arcuate ligament syndrome
       |__MEDNIK syndrome 1 rec.
       |__Meester-Loeys syndrome
       |__megacystis-microcolon-intestinal hypoperistalsis syndrome 1 rec.
       |__Meier-Gorlin syndrome(+) 20 rec.
       |__melanoma and neural system tumor syndrome
       |__microcephaly and chorioretinopathy 1 1 rec.
       |__microcephaly and chorioretinopathy 2 1 rec.
       |__microcephaly and chorioretinopathy 3 1 rec.
       |__microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 2 rec.
       |__microcephaly, growth deficiency, seizures, and brain malformations 1 rec.
       |__microcephaly-micromelia syndrome 1 rec.
       |__microphthalmia with limb anomalies 1 rec.
       |__midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 1 rec.
       |__Miller-Dieker lissencephaly syndrome
       |__mismatch repair cancer syndrome 1 rec.
       |__MLS syndrome(+) 2 rec.
       |__mosaic variegated aneuploidy syndrome(+) 3 rec.
       |__Mowat-Wilson syndrome 1 rec.
       |__Muckle-Wells syndrome
       |__Mulchandani-Bhoj-Conlin syndrome
       |__mulibrey nanism
       |__multicentric carpotarsal osteolysis syndrome 1 rec.
       |__multicentric reticulohistiocytosis
       |__multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
       |__multiple chemical sensitivity
       |__multiple endocrine neoplasia(+) 78 rec.
       |__multiple epiphyseal dysplasia with myopia and deafness
       |__N syndrome
       |__nail-patella syndrome 2 rec.
       |__Nance-Horan syndrome 1 rec.
       |__Nasu-Hakola disease
       |__neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1 rec.
       |__neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1 rec.
       |__neurodevelopmental disorder with hypotonia and speech delay 6 rec.
       |__neurodevelopmental disorder with or without autism or seizures 2 rec.
       |__neurodevelopmental disorder with seizures and gingival overgrowth 1 rec.
       |__neurooculocardiogenitourinary syndrome 6 rec.
       |__nevoid basal cell carcinoma syndrome(+) 2 rec.
       |__NFIA-related disorder 4 rec.
       |__Nicolaides-Baraitser syndrome 3 rec.
       |__Nijmegen breakage syndrome 2 rec.
       |__Nil-Deshwan neurodevelopmental syndrome 2 rec.
       |__Norrie disease
       |__oculoauricular syndrome 1 rec.
       |__oculocerebrorenal syndrome 2 rec.
       |__oculocutaneous albinism(+) 10 rec.
       |__oculodentodigital dysplasia
       |__Ogden syndrome 1 rec.
       |__Ohdo syndrome(+) 2 rec.
       |__Oliver-McFarlane syndrome 6 rec.
       |__Ollier disease
       |__Opitz GBBB syndrome
       |__orofacial cleft(+) 16 rec.
       |__orofaciodigital syndrome(+) 6 rec.
       |__osteoporosis-pseudoglioma syndrome 2 rec.
       |__overactive bladder syndrome
       |__pachyonychia congenita
       |__Pallister-Hall syndrome 1 rec.
       |__palmoplantar keratoderma-deafness syndrome
       |__palmoplantar keratoderma-esophageal carcinoma syndrome 1 rec.
       |__pancreatic hypoplasia-diabetes-congenital heart disease syndrome 3 rec.
       |__PAPA syndrome
       |__PCWH syndrome 1 rec.
       |__Pendred Syndrome 1 rec.
       |__Perlman syndrome 10 rec.
       |__Perrault syndrome(+) 6 rec.
       |__Perry syndrome 6 rec.
       |__persian gulf syndrome
       |__Peters plus syndrome 1 rec.
       |__PHARC syndrome 1 rec.
       |__Pierson syndrome 1 rec.
       |__Pitt-Hopkins syndrome 8 rec.
       |__plasminogen deficiency type I 1 rec.
       |__polyhydramnios, megalencephaly, and symptomatic epilepsy 1 rec.
       |__popliteal pterygium syndrome
       |__post-cardiac arrest syndrome
       |__postaxial acrofacial dysostosis 1 rec.
       |__Potocki-Shaffer syndrome
       |__Prader-Willi syndrome
       |__primary hypertrophic osteoarthropathy 5 rec.
       |__progeroid syndrome(+) 30 rec.
       |__progressive osseous heteroplasia 2 rec.
       |__proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 2 rec.
       |__proprotein convertase 1/3 deficiency 1 rec.
       |__Proteus syndrome 1 rec.
       |__proximal symphalangism(+)
       |__prune belly syndrome 1 rec.
       |__pseudo-TORCH syndrome 1
       |__Qazi Markouizos syndrome
       |__ragopathy
       |__Ramon syndrome
       |__rapadilino syndrome 1 rec.
       |__RASopathy(+) 171 rec.
       |__renal coloboma syndrome 2 rec.
       |__retinopathy sensory neuropathy syndrome 1 rec.
       |__Reye syndrome
       |__rhabdoid tumor predisposition syndrome(+) 2 rec.
       |__RIDDLE syndrome 1 rec.
       |__Ritscher-Schinzel syndrome(+) 2 rec.
       |__Roberts syndrome 1 rec.
       |__Robinow syndrome(+) 8 rec.
       |__Rubinstein-Taybi syndrome 4 rec.
       |__Ruijs-Aalfs syndrome 1 rec.
       |__SADDAN 1 rec.
       |__salt and pepper syndrome
       |__Sandestig-Stefanova syndrome 4 rec.
       |__SAPHO syndrome
       |__SATB2-associated syndrome 8 rec.
       |__Schaaf-Yang syndrome 1 rec.
       |__Schinzel type phocomelia 1 rec.
       |__Schwartz-Jampel syndrome 1 1 rec.
       |__Seckel syndrome(+) 24 rec.
       |__Senior-Loken syndrome 2 rec.
       |__septooptic dysplasia
       |__short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 1 rec.
       |__short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
       |__short stature, hearing loss, retinitis pigmentosa, and distinctive facies 17 rec.
       |__SHORT syndrome 1 rec.
       |__Shukla-Vernon syndrome 1 rec.
       |__Shwachman-Diamond syndrome 16 rec.
       |__Simpson-Golabi-Behmel syndrome type 1 1 rec.
       |__Simpson-Golabi-Behmel syndrome type 2
       |__Sjogren-Larsson syndrome 1 rec.
       |__Sotos syndrome(+) 6 rec.
       |__spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
       |__spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1 rec.
       |__Stickler syndrome(+) 1 rec.
       |__Stolerman neurodevelopmental syndrome 25 rec.
       |__subclavian steal syndrome
       |__sudden infant death syndrome 2 rec.
       |__Sweeney-Cox syndrome 1 rec.
       |__syndactyly-telecanthus-anogenital and renal malformations syndrome 1 rec.
       |__TANGO2-related metabolic encephalopathy and arrythmias 3 rec.
       |__TARP syndrome 2 rec.
       |__Teebi hypertelorism syndrome(+) 2 rec.
       |__Temple syndrome
       |__temtamy preaxial brachydactyly syndrome 1 rec.
       |__Temtamy syndrome 1 rec.
       |__terminal osseous dysplasia 2 rec.
       |__tetraamelia syndrome(+) 3 rec.
       |__thiamine-responsive megaloblastic anemia syndrome 1 rec.
       |__thrombocytopenia-absent radius syndrome 1 rec.
       |__Tietz syndrome 1 rec.
       |__Timothy syndrome 1 rec.
       |__tooth and nail syndrome 2 rec.
       |__TORCH syndrome
       |__Townes-Brocks syndrome 5 rec.
       |__Treacher Collins syndrome(+) 5 rec.
       |__trichodontoosseous syndrome 1 rec.
       |__trichohepatoenteric syndrome(+) 2 rec.
       |__trichorhinophalangeal syndrome type I 1 rec.
       |__trichorhinophalangeal syndrome type II
       |__trichorhinophalangeal syndrome type III 1 rec.
       |__trichothiodystrophy(+) 14 rec.
       |__triple-A syndrome 2 rec.
       |__ulnar-mammary syndrome 8 rec.
       |__urofacial syndrome 2 rec.
       |__Uruguay faciocardiomusculoskeletal syndrome 4 rec.
       |__Usher syndrome(+) 13 rec.
       |__uveal coloboma-cleft lip and palate-intellectual disability 1 rec.
       |__VACTERL association(+) 1 rec.
       |__Van den Ende-Gupta syndrome
       |__Van der Woude syndrome 1 rec.
       |__Van Maldergem syndrome(+) 7 rec.
       |__ventriculomegaly - cystic kidney disease 1 rec.
       |__vertebral anomalies and variable endocrine and T-cell dysfunction 2 rec.
       |__vertebral artery insufficiency
       |__vertebral hypersegmentation and orofacial anomalies 5 rec.
       |__VEXAS syndrome 1 rec.
       |__Vici syndrome 8 rec.
       |__Vissers-Bodmer syndrome 30 rec.
       |__Vohwinkel syndrome
       |__Waardenburg syndrome(+) 7 rec.
       |__Waisman syndrome 2 rec.
       |__Warburg micro syndrome(+) 11 rec.
       |__Warsaw breakage syndrome 1 rec.
       |__Weaver syndrome 1 rec.
       |__Weill-Marchesani syndrome 3 rec.
       |__Williams-Beuren syndrome 4 rec.
       |__Winchester syndrome 1 rec.
       |__Wiskott-Aldrich syndrome 1 rec.
       |__Wissler-Fanconi syndrome
       |__Wolcott-Rallison syndrome 1 rec.
       |__Wolfram syndrome(+) 11 rec.
       |__Woodhouse-Sakati syndrome
       |__wrinkly skin syndrome 5 rec.
       |__X-linked retinitis pigmentosa and sinorespiratory infections 3 rec.
       |__xeroderma pigmentosum(+) 23 rec.
       |__yellow nail syndrome 1 rec.
       |__Yoon-Bellen neurodevelopmental syndrome 14 rec.
       |__Yunis-Varon syndrome 2 rec.
       |__Zaki syndrome 1 rec.
       |__Zika virus congenital syndrome 16 rec.
       |__Zollinger-Ellison syndrome
       |__ZTTK syndrome 1 rec.