disease
|__syndrome 1762 rec.
|__3-M syndrome 3 rec.
|__3MC syndrome 13 rec.
| |__3MC syndrome 1 2 rec.
| |__3MC syndrome 2 1 rec.
| |__3MC syndrome 3 11 rec.
|__Aagenaes syndrome
|__Aarskog syndrome 1 rec.
| |__autosomal dominant Aarskog syndrome
| |__X-linked Aarskog syndrome 1 rec.
|__ABCD syndrome
|__abdominal obesity-metabolic syndrome 5 rec.
| |__abdominal obesity-metabolic syndrome 1 2 rec.
| |__abdominal obesity-metabolic syndrome 3 1 rec.
| |__abdominal obesity-metabolic syndrome 4 2 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.
| |__Adams-Oliver syndrome 3 2 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
| |__alopecia-mental retardation syndrome 1
| |__alopecia-mental retardation syndrome 2
| |__alopecia-mental retardation syndrome 3
| |__alopecia-mental retardation syndrome 4
|__alpha-thalassemia myelodysplasia syndrome 2 rec.
|__Alport syndrome 2 rec.
| |__autosomal dominant Alport syndrome 1 rec.
| |__autosomal recessive Alport syndrome 2 rec.
| |__X-linked Alport syndrome 1 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.
| |__arthrogryposis, renal dysfunction, and cholestasis 1 3 rec.
| |__arthrogryposis, renal dysfunction, and cholestasis 2 2 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.
| |__Baraitser-Winter syndrome 1 7 rec.
| |__Baraitser-Winter syndrome 2 2 rec.
|__Barber-Say syndrome 1 rec.
|__Bardet-Biedl syndrome 20 rec.
| |__Bardet-Biedl syndrome 1 4 rec.
| |__Bardet-Biedl syndrome 2
| |__Bardet-Biedl syndrome 3 2 rec.
| |__Bardet-Biedl syndrome 4 1 rec.
| |__Bardet-Biedl syndrome 5 1 rec.
| |__Bardet-Biedl syndrome 6
| |__Bardet-Biedl syndrome 7
| |__Bardet-Biedl syndrome 8 1 rec.
| |__Bardet-Biedl syndrome 9 1 rec.
| |__Bardet-Biedl syndrome 10
| |__Bardet-Biedl syndrome 11
| |__Bardet-Biedl syndrome 12
| |__Bardet-Biedl syndrome 13 1 rec.
| |__Bardet-Biedl syndrome 14 2 rec.
| |__Bardet-Biedl syndrome 15 1 rec.
| |__Bardet-Biedl syndrome 16 1 rec.
| |__Bardet-Biedl syndrome 17
| |__Bardet-Biedl syndrome 18 1 rec.
| |__Bardet-Biedl syndrome 19
| |__Bardet-Biedl syndrome 20 1 rec.
| |__Bardet-Biedl syndrome 21
| |__Bardet-Biedl syndrome 22
|__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.
| |__blepharocheilodontic syndrome 1 1 rec.
| |__blepharocheilodontic syndrome 2 1 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.
| |__branchiootorenal syndrome 1 2 rec.
| |__branchiootorenal syndrome 2 1 rec.
|__breast implant illness
|__Brown-Vialetto-Van Laere syndrome 5 rec.
| |__Brown-Vialetto-Van Laere syndrome 1 2 rec.
| |__Brown-Vialetto-Van Laere syndrome 2 2 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.
| |__Carey-Fineman-Ziter syndrome 1 1 rec.
| |__Carey-Fineman-Ziter syndrome 2
|__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 ataxia, impaired intellectual development, and dysequilibrium syndrome 1 2 rec.
| |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 1 rec.
| |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 1 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.
| |__autosomal dominant chondrodysplasia punctata
| |__rhizomelic chondrodysplasia punctata(+) 15 rec.
| |__X-linked chondrodysplasia punctata 1 2 rec.
| |__X-linked chondrodysplasia punctata 2(+) 1 rec.
|__chondrodysplasia-pseudohermaphroditism syndrome 1 rec.
|__chronic atrial and intestinal dysrhythmia
|__chronic fatigue syndrome
|__ciliopathy 84 rec.
| |__Joubert syndrome(+) 15 rec.
| |__Meckel syndrome(+) 6 rec.
| |__primary ciliary dyskinesia(+) 69 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.
| |__cerebrooculofacioskeletal syndrome(+) 3 rec.
| |__Cockayne syndrome A
| |__Cockayne syndrome B
|__CODAS syndrome 5 rec.
|__Coffin-Lowry syndrome 3 rec.
|__Coffin-Siris syndrome 32 rec.
| |__Coffin-Siris syndrome 1 3 rec.
| |__Coffin-Siris syndrome 2 3 rec.
| |__Coffin-Siris syndrome 3 3 rec.
| |__Coffin-Siris syndrome 4 2 rec.
| |__Coffin-Siris syndrome 5 1 rec.
| |__Coffin-Siris syndrome 6 1 rec.
| |__Coffin-Siris syndrome 7 2 rec.
| |__Coffin-Siris syndrome 8 2 rec.
| |__Coffin-Siris syndrome 9 1 rec.
| |__Coffin-Siris syndrome 10 1 rec.
| |__Coffin-Siris syndrome 11 2 rec.
| |__Coffin-Siris syndrome 12 2 rec.
|__Cohen syndrome 1 rec.
|__cold-induced sweating syndrome 6 rec.
| |__cold-induced sweating syndrome 1
| |__cold-induced sweating syndrome 2
| |__cold-induced sweating syndrome 3 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.
| |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 rec.
| |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 1 rec.
|__corneal dystrophy-perceptive deafness syndrome 2 rec.
|__Cornelia de Lange syndrome 18 rec.
| |__Cornelia de Lange syndrome 1 2 rec.
| |__Cornelia de Lange syndrome 2 4 rec.
| |__Cornelia de Lange syndrome 3 3 rec.
| |__Cornelia de Lange syndrome 4 3 rec.
| |__Cornelia de Lange syndrome 5 1 rec.
| |__Cornelia de Lange syndrome 6 2 rec.
|__corpus callosum agenesis-abnormal genitalia syndrome 3 rec.
|__cranioectodermal dysplasia 4 rec.
| |__cranioectodermal dysplasia 1 1 rec.
| |__cranioectodermal dysplasia 2 1 rec.
| |__cranioectodermal dysplasia 3 1 rec.
| |__cranioectodermal dysplasia 4 1 rec.
|__craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2 rec.
| |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 1 rec.
| |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 1 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.
| |__ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1 rec.
| |__BASAN syndrome 1 rec.
| |__cartilage-hair hypoplasia
| |__Clouston syndrome
| |__dermatopathia pigmentosa reticularis
| |__ectodermal dysplasia 8
| |__ectodermal dysplasia 13
| |__ectodermal dysplasia 14 1 rec.
| |__ectodermal dysplasia 15 3 rec.
| |__ectodermal dysplasia and immune deficiency(+) 1 rec.
| |__ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
| |__hypohidrotic ectodermal dysplasia(+) 1 rec.
| |__Marshall syndrome 1 rec.
| |__Naegeli-Franceschetti-Jadassohn syndrome
| |__oculoectodermal syndrome 1 rec.
| |__palmoplantar keratoderma and congenital alopecia 1
| |__palmoplantar keratoderma and congenital alopecia 2
| |__Papillon-Lefevre disease 7 rec.
| |__pure hair and nail ectodermal dysplasia(+)
| |__Rapp-Hodgkin syndrome 1 rec.
| |__scalp-ear-nipple syndrome 1 rec.
| |__Schinzel Giedion syndrome
| |__Schopf-Schulz-Passarge syndrome 1 rec.
|__EEC syndrome 1 rec.
| |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
| |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 akinesia deformation sequence syndrome 1 1 rec.
| |__fetal akinesia deformation sequence syndrome 2 1 rec.
| |__fetal akinesia deformation sequence syndrome 3
| |__fetal akinesia deformation sequence syndrome 4 1 rec.
| |__fetal akinesia deformation sequence syndrome X-linked
|__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.
| |__Fraser syndrome 1 3 rec.
| |__Fraser syndrome 2 1 rec.
| |__Fraser syndrome 3 1 rec.
|__Frasier syndrome 1 rec.
|__frontonasal dysplasia 2 rec.
| |__frontonasal dysplasia 1 1 rec.
| |__frontonasal dysplasia 2 1 rec.
| |__frontonasal dysplasia 3 2 rec.
|__Fuchs' heterochromic uveitis
|__Galloway-Mowat syndrome 17 rec.
| |__Galloway-Mowat syndrome 1
| |__Galloway-Mowat syndrome 2 1 rec.
| |__Galloway-Mowat syndrome 3 15 rec.
| |__Galloway-Mowat syndrome 4 1 rec.
| |__Galloway-Mowat syndrome 5
|__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.
| |__Cowden syndrome(+) 5 rec.
| |__tuberous sclerosis(+) 33 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.
| |__Hermansky-Pudlak syndrome 1 1 rec.
| |__Hermansky-Pudlak syndrome 2 2 rec.
| |__Hermansky-Pudlak syndrome 3 1 rec.
| |__Hermansky-Pudlak syndrome 4 2 rec.
| |__Hermansky-Pudlak syndrome 5 2 rec.
| |__Hermansky-Pudlak syndrome 6
| |__Hermansky-Pudlak syndrome 7 3 rec.
| |__Hermansky-Pudlak syndrome 8 1 rec.
| |__Hermansky-Pudlak syndrome 9 6 rec.
|__high myopia-sensorineural deafness syndrome 1 rec.
|__histiocytosis-lymphadenopathy plus syndrome 3 rec.
|__holoprosencephaly 12 rec.
| |__chromosome 1q41-q42 deletion syndrome
| |__holoprosencephaly 1
| |__holoprosencephaly 2 1 rec.
| |__holoprosencephaly 3 1 rec.
| |__holoprosencephaly 4 2 rec.
| |__holoprosencephaly 5 1 rec.
| |__holoprosencephaly 6
| |__holoprosencephaly 7 1 rec.
| |__holoprosencephaly 8
| |__holoprosencephaly 9 1 rec.
| |__holoprosencephaly 11 2 rec.
| |__holoprosencephaly 12 1 rec.
| |__Holoprosencephaly 13, X-linked 2 rec.
|__Holt-Oram syndrome 1 rec.
|__Holzgreve-Wagner-Rehder Syndrome
|__hydrolethalus syndrome 5 rec.
| |__hydrolethalus syndrome 1
| |__hydrolethalus syndrome 2 2 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.
| |__adult hypophosphatasia 7 rec.
| |__childhood hypophosphatasia 7 rec.
| |__infantile 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.
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 1
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 rec.
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 3
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 4 1 rec.
|__inclusion body myopathy with Paget disease of bone and frontotemporal dementia 53 rec.
| |__inclusion body myopathy and brain white matter abnormalities 2 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 15 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 13 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 5 rec.
|__infantile liver failure syndrome 1 rec.
| |__infantile liver failure syndrome 1 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.
| |__Kenny-Caffey syndrome type 1 1 rec.
| |__Kenny-Caffey syndrome type 2
|__KINSSHIP syndrome 1 rec.
|__Kleefstra syndrome 9 rec.
| |__Kleefstra syndrome 1 4 rec.
| |__Kleefstra syndrome 2 4 rec.
|__Klippel-Feil syndrome 2 rec.
| |__Klippel-Feil syndrome 1
| |__Klippel-Feil syndrome 2 1 rec.
| |__Klippel-Feil syndrome 3
| |__Klippel-Feil syndrome 4 1 rec.
|__Klippel-Trenaunay syndrome
|__Kohlschutter-Tonz syndrome 18 rec.
|__Koolen de Vries syndrome 3 rec.
|__LADD syndrome 3 rec.
| |__lacrimoauriculodentodigital syndrome 1 2 rec.
| |__lacrimoauriculodentodigital syndrome 2 1 rec.
| |__lacrimoauriculodentodigital syndrome 3 1 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
| |__Leber hereditary optic neuropathy and dystonia
| |__Leber hereditary optic neuropathy with demyelinating disease of CNS
|__Lenz-Majewski hyperostotic dwarfism 1 rec.
|__lethal congenital contracture syndrome 4 rec.
| |__lethal congenital contracture syndrome 1 1 rec.
| |__lethal congenital contracture syndrome 2 1 rec.
| |__lethal congenital contracture syndrome 3 2 rec.
| |__lethal congenital contracture syndrome 4
|__Li-Fraumeni syndrome 3 rec.
| |__Li-Fraumeni syndrome 1 2 rec.
| |__Li-Fraumeni syndrome 2 1 rec.
|__linear nevus sebaceous syndrome 1 rec.
|__Loeys-Dietz syndrome 6 rec.
| |__Loeys-Dietz syndrome 1 1 rec.
| |__Loeys-Dietz syndrome 2 1 rec.
| |__Loeys-Dietz syndrome 3 1 rec.
| |__Loeys-Dietz syndrome 4 3 rec.
| |__Loeys-Dietz syndrome 5 3 rec.
| |__Loeys-Dietz syndrome 6 1 rec.
|__Lown-Ganong-Levine syndrome
|__lymphedema-distichiasis syndrome 1 rec.
|__Lynch syndrome 5 rec.
| |__hereditary nonpolyposis colorectal cancer type 2 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 4 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 5 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 6 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 7 2 rec.
| |__hereditary nonpolyposis colorectal cancer type 8
| |__Lynch syndrome 1 1 rec.
| |__Muir-Torre syndrome 2 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
| |__Mayer-Rokitansky-Kuster-Hauser syndrome type 1
| |__Mayer-Rokitansky-Kuster-Hauser syndrome type 2
|__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.
| |__Meier-Gorlin syndrome 1 1 rec.
| |__Meier-Gorlin syndrome 2 3 rec.
| |__Meier-Gorlin syndrome 3 10 rec.
| |__Meier-Gorlin syndrome 4 1 rec.
| |__Meier-Gorlin syndrome 5 1 rec.
| |__Meier-Gorlin syndrome 6 1 rec.
| |__Meier-Gorlin syndrome 7 1 rec.
| |__Meier-Gorlin syndrome 8 1 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.
| |__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.
|__mosaic variegated aneuploidy syndrome 3 rec.
| |__mosaic variegated aneuploidy syndrome 1 1 rec.
| |__mosaic variegated aneuploidy syndrome 2
| |__mosaic variegated aneuploidy syndrome 3 1 rec.
| |__mosaic variegated aneuploidy syndrome 4
| |__mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 1 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 endocrine neoplasia type 1 9 rec.
| |__multiple endocrine neoplasia type 2A 36 rec.
| |__multiple endocrine neoplasia type 2B 60 rec.
| |__multiple endocrine neoplasia type 4 1 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.
| |__nevoid basal cell carcinoma syndrome 1 1 rec.
| |__nevoid basal cell carcinoma syndrome 2 1 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.
| |__oculocutaneous albinism type IA
| |__oculocutaneous albinism type IB
| |__oculocutaneous albinism type II 5 rec.
| |__oculocutaneous albinism type III
| |__oculocutaneous albinism type IV 2 rec.
| |__oculocutaneous albinism type V
| |__oculocutaneous albinism type VI 2 rec.
| |__oculocutaneous albinism type VII 1 rec.
|__oculodentodigital dysplasia
|__Ogden syndrome 1 rec.
|__Ohdo syndrome 2 rec.
| |__Ohdo syndrome, SBBYS variant 1 rec.
|__Oliver-McFarlane syndrome 6 rec.
|__Ollier disease
|__Opitz GBBB syndrome
|__orofacial cleft 16 rec.
| |__cleft lip
| |__cleft palate(+) 6 rec.
| |__oblique facial clefting 1 1 rec.
| |__orofacial cleft 1
| |__orofacial cleft 2
| |__orofacial cleft 3
| |__orofacial cleft 4
| |__orofacial cleft 5 2 rec.
| |__orofacial cleft 6
| |__orofacial cleft 7
| |__orofacial cleft 8 1 rec.
| |__orofacial cleft 9
| |__orofacial cleft 10 1 rec.
| |__orofacial cleft 11 1 rec.
| |__orofacial cleft 12
| |__orofacial cleft 13
| |__orofacial cleft 14
| |__orofacial cleft 15 1 rec.
|__orofaciodigital syndrome 6 rec.
| |__orofaciodigital syndrome I
| |__orofaciodigital syndrome II 1 rec.
| |__orofaciodigital syndrome III
| |__orofaciodigital syndrome IV 1 rec.
| |__orofaciodigital syndrome IX
| |__orofaciodigital syndrome V
| |__orofaciodigital syndrome VII
| |__orofaciodigital syndrome VIII
| |__orofaciodigital syndrome X
| |__orofaciodigital syndrome XI
| |__orofaciodigital syndrome XIV 1 rec.
| |__orofaciodigital syndrome XIX
| |__orofaciodigital syndrome XVI
| |__orofaciodigital syndrome XVII 1 rec.
| |__orofaciodigital syndrome XVIII 1 rec.
| |__orofaciodigital syndrome XX 1 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.
| |__Perrault syndrome 2 1 rec.
| |__Perrault syndrome 6 1 rec.
| |__Perrault syndrome 7 1 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.
| |__Mulvihill-Smith syndrome
| |__Nestor-Guillermo progeria syndrome 7 rec.
| |__progeria 8 rec.
| |__Werner syndrome 10 rec.
| |__Wiedemann-Rautenstrauch syndrome 1 rec.
| |__XFE progeroid syndrome 1 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
| |__proximal symphalangism 1
| |__proximal symphalangism 2
|__prune belly syndrome 1 rec.
|__pseudo-TORCH syndrome 1
|__Qazi Markouizos syndrome
|__ragopathy
|__Ramon syndrome
|__rapadilino syndrome 1 rec.
|__RASopathy 171 rec.
| |__cardiofaciocutaneous syndrome(+) 6 rec.
| |__Costello syndrome 4 rec.
| |__Legius syndrome 1 rec.
| |__neurofibromatosis(+) 100 rec.
| |__neurofibromatosis-Noonan syndrome 1 rec.
| |__Noonan syndrome(+) 47 rec.
| |__Noonan syndrome with multiple lentigines(+) 15 rec.
| |__Noonan syndrome-like disorder with loose anagen hair(+) 2 rec.
| |__schwannomatosis(+) 4 rec.
| |__Watson syndrome 1 rec.
|__renal coloboma syndrome 2 rec.
|__retinopathy sensory neuropathy syndrome 1 rec.
|__Reye syndrome
|__rhabdoid tumor predisposition syndrome 2 rec.
| |__rhabdoid tumor predisposition syndrome 1 1 rec.
| |__rhabdoid tumor predisposition syndrome 2 1 rec.
|__RIDDLE syndrome 1 rec.
|__Ritscher-Schinzel syndrome 2 rec.
| |__Ritscher-Schinzel syndrome 1 1 rec.
| |__Ritscher-Schinzel syndrome 2 1 rec.
|__Roberts syndrome 1 rec.
|__Robinow syndrome 8 rec.
| |__autosomal dominant Robinow syndrome 1 1 rec.
| |__autosomal dominant Robinow syndrome 2 6 rec.
| |__autosomal dominant Robinow syndrome 3 1 rec.
| |__autosomal recessive Robinow syndrome 1 rec.
| |__autosomal recessive Robinow syndrome 2
|__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.
| |__Seckel syndrome 1 1 rec.
| |__Seckel syndrome 2
| |__Seckel syndrome 4 1 rec.
| |__Seckel syndrome 5
| |__Seckel syndrome 6
| |__Seckel syndrome 7 1 rec.
| |__Seckel syndrome 8 1 rec.
| |__Seckel syndrome 9 15 rec.
| |__Seckel syndrome 10 4 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.
| |__Sotos syndrome 1 3 rec.
| |__Sotos syndrome 2 1 rec.
| |__Sotos syndrome 3 2 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.
| |__Stickler syndrome 1
| |__Stickler syndrome 2 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.
| |__Teebi hypertelorism syndrome 1 1 rec.
| |__Teebi hypertelorism syndrome 2 1 rec.
|__Temple syndrome
|__temtamy preaxial brachydactyly syndrome 1 rec.
|__Temtamy syndrome 1 rec.
|__terminal osseous dysplasia 2 rec.
|__tetraamelia syndrome 3 rec.
| |__tetraamelia syndrome 1 3 rec.
| |__tetraamelia syndrome 2
|__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.
| |__Treacher Collins syndrome 1
| |__Treacher Collins syndrome 2 3 rec.
| |__Treacher Collins syndrome 3 1 rec.
| |__Treacher Collins syndrome 4 1 rec.
|__trichodontoosseous syndrome 1 rec.
|__trichohepatoenteric syndrome 2 rec.
| |__trichohepatoenteric syndrome 1 1 rec.
| |__trichohepatoenteric syndrome 2 1 rec.
|__trichorhinophalangeal syndrome type I 1 rec.
|__trichorhinophalangeal syndrome type II
|__trichorhinophalangeal syndrome type III 1 rec.
|__trichothiodystrophy 14 rec.
| |__nonphotosensitive trichothiodystrophy(+) 6 rec.
| |__photosensitive trichothiodystrophy(+) 8 rec.
|__triple-A syndrome 2 rec.
|__ulnar-mammary syndrome 8 rec.
|__urofacial syndrome 2 rec.
|__Uruguay faciocardiomusculoskeletal syndrome 4 rec.
|__Usher syndrome 13 rec.
| |__retinitis pigmentosa-deafness syndrome
| |__Usher syndrome type 1(+) 8 rec.
| |__Usher syndrome type 2(+) 2 rec.
| |__Usher syndrome type 3(+) 2 rec.
|__uveal coloboma-cleft lip and palate-intellectual disability 1 rec.
|__VACTERL association 1 rec.
| |__X-linked VACTERL association 1 rec.
|__Van den Ende-Gupta syndrome
|__Van der Woude syndrome 1 rec.
|__Van Maldergem syndrome 7 rec.
| |__Van Maldergem syndrome 1 2 rec.
| |__Van Maldergem syndrome 2 6 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.
| |__Waardenburg syndrome type 1 5 rec.
| |__Waardenburg syndrome type 2A 1 rec.
| |__Waardenburg syndrome type 2B
| |__Waardenburg syndrome type 2C
| |__Waardenburg syndrome type 2E 1 rec.
| |__Waardenburg syndrome type 3 5 rec.
| |__Waardenburg syndrome type 4A
| |__Waardenburg syndrome type 4B
| |__Waardenburg syndrome type 4C 1 rec.
|__Waisman syndrome 2 rec.
|__Warburg micro syndrome 11 rec.
| |__Warburg micro syndrome 1 1 rec.
| |__Warburg micro syndrome 2 2 rec.
| |__Warburg micro syndrome 3 1 rec.
| |__Warburg micro syndrome 4 1 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.
| |__autosomal dominant Wolfram syndrome 1 rec.
| |__Wolfram syndrome 1 9 rec.
| |__Wolfram syndrome 2 2 rec.
| |__Wolfram syndrome, mitochondrial form
|__Woodhouse-Sakati syndrome
|__wrinkly skin syndrome 5 rec.
|__X-linked retinitis pigmentosa and sinorespiratory infections 3 rec.
|__xeroderma pigmentosum 23 rec.
| |__De Sanctis-Cacchione syndrome
| |__xeroderma pigmentosum group A 1 rec.
| |__xeroderma pigmentosum group B 2 rec.
| |__xeroderma pigmentosum group C 1 rec.
| |__xeroderma pigmentosum group D 2 rec.
| |__xeroderma pigmentosum group E
| |__xeroderma pigmentosum group F 1 rec.
| |__xeroderma pigmentosum group G 1 rec.
| |__xeroderma pigmentosum variant type 2 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.
|
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