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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:syndromic disease
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Accession:EFO:MONDO:0002254 term browser browse the term
Definition:A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.
Synonyms:exact_synonym: DOID:225;   NCIT:C28193;   http://identifiers.org/medgen/11688;   http://identifiers.org/mesh/D013577;   http://linkedlifedata.com/resource/umls/id/C0039082;   symptom cluster;   symptom clusters;   syndrome;   syndrome associated with disease or disorder;   syndromes;   syndromic disease or disorder
 alt_id: MONDO:0002254
 xref: DOID:225;   MEDGEN:11688;   MESH:D013577;   NCI:C28193;   OGMS:0000086;   UMLS:C0039082
 external_ontology: in_taxon EFO:NCBITaxon:9606



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            3-M syndrome 0
            46,XX disorder of sex development-anorectal anomalies syndrome 0
            48,XXXY syndrome 0
            48,XXYY syndrome 0
            48,XYYY syndrome 0
            49,XXXXY syndrome 0
            6q terminal deletion syndrome 0
            8p23.1 microdeletion syndrome 0
            ANE syndrome 0
            Aagenaes syndrome 0
            Abruzzo-Erickson syndrome 0
            Achenbach syndrome 0
            Acrootoocular syndrome 0
            Adie syndrome 0
            Aicardi syndrome 0
            Al-Gazali syndrome 0
            Alagille syndrome + 0
            Alkuraya-Kucinskas syndrome 0
            Alport syndrome + 0
            Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 0
            Alstrom syndrome 0
            Angelman syndrome + 0
            Armfield syndrome 0
            Arts syndrome 0
            Atkin-Flaitz syndrome 0
            Axenfeld-Rieger syndrome + 0
            B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0
            BNAR syndrome 0
            BRESEK syndrome 0
            Bamforth-Lazarus syndrome 0
            Baraitser-Winter cerebrofrontofacial syndrome + 0
            Bardet-Biedl syndrome + 0
            Barre-Lieou syndrome 0
            Bartter syndrome + 0
            Basilicata-Akhtar syndrome 0
            Behcet's syndrome 0
            Bencze syndrome 0
            Bernard-Soulier syndrome 0
            Birt-Hogg-Dube syndrome + 0
            Bloom syndrome 0
            Bonnemann-Meinecke-Reich syndrome 0
            Brachymorphism-onychodysplasia-dysphalangism syndrome 0
            Brown-Sequard Syndrome 0
            Bruck syndrome 0
            Brugada syndrome + 0
            Buschke-Ollendorff syndrome 0
            CADDS 0
            CEDNIK syndrome 0
            CHARGE syndrome 0
            CLOVES syndrome 0
            CODAS syndrome 0
            COG1-congenital disorder of glycosylation 0
            COG5-congenital disorder of glycosylation 0
            Camurati-Engelmann disease 0
            Cardiac-urogenital syndrome 0
            Cauda equina syndrome 0
            Cerebrorenodigital syndrome 0
            Char syndrome 0
            Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 0
            Christianson syndrome 0
            Churg-Strauss syndrome 0
            Coffin-Siris syndrome + 0
            Cole-Carpenter syndrome 0
            Cornelia de Lange syndrome 0
            Crandall syndrome 0
            Cri-du-chat syndrome 0
            Crigler-Najjar syndrome + 0
            Currarino triad 0
            Cushing syndrome + 0
            Czeizel-Losonci syndrome 0
            DICER1-related tumor predisposition + 0
            DK1-congenital disorder of glycosylation 0
            DNA ligase IV deficiency 0
            DOORS syndrome 0
            Denys-Drash syndrome 0
            Donohue syndrome 0
            Duane retraction syndrome + 0
            Duane-radial ray syndrome + 0
            Dubin-Johnson syndrome 0
            Dyggve-Melchior-Clausen disease + 0
            EDICT syndrome 0
            EEC syndrome + 0
            Ehlers-Danlos syndrome + 0
            Eisenmenger syndrome 0
            Elsahy-Waters syndrome 0
            Erdheim-Chester disease 0
            Evans syndrome 0
            FRAXF syndrome 0
            Fanconi renotubular syndrome + 0
            Feingold syndrome + 0
            Felty's syndrome 0
            Finnish type amyloidosis 0
            Frank-Ter Haar syndrome 0
            Fraser syndrome 0
            Frasier syndrome 0
            Freeman-Sheldon syndrome 0
            Fryns syndrome 0
            GIST-plus syndrome 0
            GMS syndrome 0
            GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 0
            Galloway-Mowat syndrome + 0
            Gamstorp-Wohlfart syndrome 0
            German syndrome 0
            Gilbert syndrome 0
            Gitelman syndrome 0
            Goldberg-Shprintzen syndrome 0
            Greig cephalopolysyndactyly syndrome 0
            Grubben-de Cock-Borghgraef syndrome 0
            Guillain-Barre syndrome + 0
            Guttmacher syndrome 0
            HELLP syndrome 0
            Hartsfield-Bixler-Demyer syndrome 0
            Hennekam syndrome + 0
            Hirschsprung disease-ganglioneuroblastoma syndrome 0
            Hirschsprung disease-hearing loss-polydactyly syndrome 0
            Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 0
            Hirschsprung disease-type D brachydactyly syndrome 0
            Holzgreve-Wagner-Rehder syndrome 0
            Houge-Janssens syndrome + 0
            Hurler syndrome 0
            Hurler-Scheie syndrome 0
            Hutchinson-Gilford progeria syndrome 0
            Hypereosinophilic syndrome + 0
            IFAP syndrome + 0
            IMAGe syndrome 0
            IRF6-related condition + 0
            Imerslund-Grasbeck syndrome + 0
            Jaberi-Elahi syndrome 0
            Jacobsen syndrome 0
            Joubert syndrome + 0
            Joubert syndrome with ocular defect 0
            Joubert syndrome with oculorenal defect + 0
            KINSSHIP syndrome 0
            Kabuki syndrome 0
            Kallmann syndrome + 0
            Kearns-Sayre syndrome 0
            Kenny-Caffey syndrome + 0
            Kleine-Levin Syndrome 0
            Kluver-Bucy syndrome 0
            Landau-Kleffner syndrome + 0
            Laurence-Moon syndrome 0
            Lennox-Gastaut syndrome + 0
            Lenz-Majewski hyperostotic dwarfism 0
            Lesch-Nyhan syndrome 0
            Liberfarb syndrome 0
            Liddle syndrome + 0
            Loeys-Dietz syndrome + 0
            Long-Olsen-Distelmaier syndrome 0
            Lopes-Maciel-Rodan syndrome 0
            Lowe-Kohn-Cohen syndrome 0
            Lown-Ganong-Levine syndrome 0
            Lui-Jee-Baron syndrome 0
            Luscan-Lumish syndrome 0
            MEDNIK syndrome 0
            MELAS syndrome 0
            MERRF syndrome 0
            MIRAGE syndrome 0
            MPI-congenital disorder of glycosylation 0
            Marfan syndrome + 0
            Marinesco-Sjogren syndrome 0
            Marshall-Smith syndrome 0
            Mauriac syndrome 0
            Mayer-Rokitansky-Kuster-Hauser syndrome + 0
            McCune-Albright syndrome 0
            Meacham syndrome 0
            Meckel syndrome + 0
            Meier-Gorlin syndrome 0
            Melhem-Fahl syndrome 0
            Melkersson-Rosenthal syndrome 0
            Menke-Hennekam syndrome 1 0
            Menke-Hennekam syndrome 2 0
            Menkes disease 0
            Mietens syndrome 0
            Mikati-Najjar-Sahli syndrome 0
            Miller Fisher syndrome 0
            Miller-Dieker lissencephaly syndrome 0
            Mobius syndrome + 0
            NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction + 0
            Nager acrofacial dysostosis 0
            Nathalie syndrome 0
            Netherton syndrome 0
            Neu-Laxova syndrome + 0
            Noonan syndrome + 0
            Noonan syndrome with multiple lentigines 0
            Norman-Roberts syndrome 0
            O'Donnell-Luria-Rodan syndrome 0
            Opitz G/BBB syndrome + 0
            PAGOD syndrome 0
            PCWH syndrome 0
            PEHO syndrome 0
            PMP22-RAI1 contiguous gene duplication syndrome 0
            Paganini-Miozzo syndrome 0
            Pallister-Hall syndrome + 0
            Pallister-W syndrome 0
            Parana hard-skin syndrome 0
            Pearson syndrome 0
            Pendred syndrome 0
            Perlman syndrome 0
            Perry syndrome 0
            Peters plus syndrome 0
            Phelan-McDermid syndrome 0
            Pitt-Hopkins syndrome 0
            Poland syndrome 0
            Potocki-Lupski syndrome 0
            Potocki-Shaffer syndrome 0
            Prader-Willi syndrome + 0
            Primrose syndrome 0
            Proteus syndrome 0
            Qazi Markouizos syndrome 0
            RHYNS syndrome 0
            RNU4ATAC spectrum disorder + 0
            Rabson-Mendenhall syndrome 0
            Rett syndrome 0
            Reunion island Larsen syndrome 0
            Reye syndrome 0
            Roberts-SC phocomelia syndrome 0
            Robinow syndrome + 0
            Roussy-Levy syndrome 0
            Rubinstein Taybi like syndrome 0
            Ruvalcaba syndrome 0
            SCARF syndrome 0
            SHORT syndrome 0
            Say-Barber-Miller syndrome 0
            Scheie syndrome 0
            Schilbach-Rott syndrome 0
            Schmid metaphyseal chondrodysplasia 0
            Schwartz-Jampel syndrome + 0
            Seckel syndrome + 0
            Shukla-Vernon syndrome 0
            Shwachman-Diamond syndrome 0
            Siddiqi syndrome 0
            Sillence syndrome 0
            Silver-Russell syndrome + 0
            Simpson-Golabi-Behmel syndrome + 0
            Sjogren syndrome 0
            Skraban-Deardorff syndrome 0
            Snijders Blok-Campeau syndrome 0
            Snijders Blok-Fisher syndrome 0
            Sotos syndrome 0
            Stankiewicz-Isidor syndrome 0
            Stevens-Johnson syndrome 0
            Stickler syndrome + 0
            Stiff-Person syndrome 0
            Susac Syndrome 0
            TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 0
            Takayasu arteritis 0
            Tan-Almurshedi syndrome 0
            Tietze syndrome 0
            Tolosa-Hunt syndrome 0
            Tourette syndrome 0
            Townes-Brocks syndrome 0
            Treacher-Collins syndrome + 0
            Turner syndrome + 0
            Usher syndrome + 0
            VACTERL with hydrocephalus + 0
            VACTERL/vater association + 0
            Vici syndrome 0
            Waardenburg syndrome + 0
            Waterhouse-Friderichsen syndrome 0
            Weaver syndrome 0
            Weill-Marchesani syndrome + 0
            Weiss-Kruszka syndrome 0
            Werner syndrome 0
            Wernicke-Korsakoff syndrome 0
            West syndrome + 0
            Wiedemann-Rautenstrauch syndrome 0
            Wildervanck syndrome 0
            Williams syndrome 0
            Wissler's syndrome 0
            Wolcott-Rallison syndrome 0
            Wolf-Hirschhorn syndrome 0
            Wolfram syndrome 0
            X-linked central congenital hypothyroidism with late-onset testicular enlargement 0
            X-linked corneal dermoid 0
            X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0
            X-linked ichthyosis syndrome + 0
            X-linked lissencephaly with abnormal genitalia 0
            X-linked mandibulofacial dysostosis 0
            X-linked spasticity-intellectual disability-epilepsy syndrome 0
            XFE progeroid syndrome 0
            Yellow Nail Syndrome 0
            Yuksel-Vogel-Bauer syndrome 0
            Yunis-Varon syndrome 0
            abdominal obesity-metabolic syndrome + 0
            ablepharon macrostomia syndrome 0
            achalasia-alacrima syndrome 0
            acrocallosal syndrome 0
            acrofrontofacionasal dysostosis 2 0
            acute chest syndrome 0
            acute coronary syndrome 0
            acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0
            acute respiratory distress syndrome + 0
            alopecia - intellectual disability syndrome 0
            alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0
            alpha 1-antitrypsin deficiency 0
            alpha thalassemia-intellectual disability syndrome type 1 0
            alpha-thalassemia-myelodysplastic syndrome 0
            angioosteohypertrophic syndrome 0
            angioosteohypotrophic syndrome 0
            aniridia - intellectual disability syndrome 0
            aniridia-absent patella syndrome 0
            aniridia-cerebellar ataxia-intellectual disability syndrome 0
            aniridia-ptosis-intellectual disability-familial obesity syndrome 0
            aniridia-renal agenesis-psychomotor retardation syndrome 0
            ankyloblepharon filiforme adnatum-cleft palate syndrome 0
            ankyloblepharon filiforme-imperforate anus syndrome 0
            anophthalmia plus syndrome 0
            anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0
            anterior spinal artery syndrome 0
            antiphospholipid syndrome 0
            aplasia cutis congenita-intestinal lymphangiectasia syndrome 0
            aplasia of lacrimal and salivary glands 0
            arachnodactyly-intellectual disability-dysmorphism syndrome 0
            arthrogryposis-renal dysfunction-cholestasis syndrome + 0
            ataxia - telangiectasia variant 0
            atrial septal defect, coronary sinus type 0
            atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0
            atypical hemolytic-uremic syndrome + 0
            autism-facial port-wine stain syndrome 0
            autoimmune polyendocrinopathy + 0
            autoinflammatory syndrome + 0
            autosomal dominant cataract 0
            autosomal dominant chondrodysplasia punctata + 0
            autosomal dominant deafness - onychodystrophy syndrome 0
            autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0
            autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0
            autosomal recessive multiple pterygium syndrome + 0
            axial mesodermal dysplasia spectrum 0
            blepharophimosis - intellectual disability syndrome, SBBYS type 0
            blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0
            brachydactyly type A2 0
            brachydactyly-arterial hypertension syndrome 0
            brachydactyly-nystagmus-cerebellar ataxia syndrome 0
            brachytelephalangy-dysmorphism-Kallmann syndrome 0
            brain abnormalities, neurodegeneration, and dysosteosclerosis 0
            branchio-oto-renal syndrome 0
            branchiootic syndrome 0
            burning mouth syndrome 0
            campomelia, Cumming type 0
            capillary leak syndrome 0
            carcinoid syndrome 0
            cardioectodermal syndrome + 0
            cardiomyopathy-cataract-hip spine disease syndrome 0
            cat-eye syndrome 0
            cataract - microcornea syndrome 0
            cataract-deafness-hypogonadism syndrome 0
            cataract-glaucoma syndrome 0
            cataract-intellectual disability-anal atresia-urinary defects syndrome 0
            cataract-nephropathy-encephalopathy syndrome 0
            cataracts, hearing impairment, nephrotic syndrome, and enterocolitis + 0
            caudal duplication 0
            caudal regression-sirenomelia spectrum + 0
            causalgia 0
            central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0
            central hypoventilation syndrome, late-onset 0
            central nervous system calcification-deafness-tubular acidosis-anemia syndrome 0
            central sleep apnea syndrome + 0
            cerebellar ataxia, intellectual disability, and dysequilibrium + 0
            cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0
            cerebral arteriopathy with subcortical infarcts and leukoencephalopathy + 0
            cerebrocostomandibular syndrome 0
            channelopathy-associated congenital insensitivity to pain, autosomal recessive 0
            choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0
            chondrodysplasia + 0
            chondrodysplasia-pseudohermaphroditism syndrome 0
            chromosome 13q14 deletion syndrome 0
            chromosome 16p12.1 deletion syndrome, 520kb 0
            chromosome 18p deletion syndrome 0
            chromosome 18q deletion syndrome 0
            chronic atrial and intestinal dysrhythmia 0
            chronic fatigue syndrome 0
            circumscribed cutaneous aplasia of the vertex 0
            cleft lip-retinopathy syndrome 0
            cleft lip/palate-deafness-sacral lipoma syndrome 0
            cleidocranial dysplasia 1 0
            cleidorhizomelic syndrome 0
            cloacal exstrophy 0
            cochleosaccular degeneration-cataract syndrome 0
            compartment syndrome + 0
            complex hereditary spastic paraplegia + 0
            congenital cataract-ichthyosis syndrome 0
            congenital hereditary facial paralysis-variable hearing loss syndrome 0
            congenital ichthyosis-microcephalus-tetraplegia syndrome 0
            congenital laryngeal web 0
            congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0
            congenital myasthenic syndrome + 0
            congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 0
            corneal dystrophy-perceptive deafness syndrome 0
            corneal-cerebellar syndrome 0
            corpus callosum agenesis-abnormal genitalia syndrome 0
            cortical blindness-intellectual disability-polydactyly syndrome 0
            cortical dysplasia-focal epilepsy syndrome 0
            corticobasal degeneration disorder 0
            craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0
            craniofacial microsomia 0
            craniofrontonasal syndrome 0
            cystic fibrosis-gastritis-megaloblastic anemia syndrome 0
            cystinuria + 0
            de Sanctis-Cacchione syndrome 0
            deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0
            deafness-hypogonadism syndrome 0
            deafness-infertility syndrome 0
            deafness-intellectual disability, Martin-Probst type syndrome 0
            deafness-lymphedema-leukemia syndrome 0
            dermochondrocorneal dystrophy 0
            developmental and speech delay due to SOX5 deficiency 0
            diabetes, deafness, developmental delay, and short stature syndrome 0
            diaphragmatic defect-limb deficiency-skull defect syndrome 0
            diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0
            digital anomalies-intellectual disability-short stature syndrome 0
            dilated cardiomyopathy 1A 0
            dilated cardiomyopathy 1E 0
            disappearing bone disease + 0
            distal monosomy 13q 0
            distal trisomy 14q 0
            diverticulosis of bowel, hernia, and retinal detachment 0
            double uterus-hemivagina-renal agenesis syndrome 0
            dry eye syndrome 0
            dumping syndrome 0
            dyschondrosteosis-nephritis syndrome 0
            dyssegmental dysplasia-glaucoma syndrome 0
            ectodermal dysplasia syndrome + 0
            ectrodactyly-polydactyly syndrome 0
            empty sella syndrome 0
            enlarged vestibular aqueduct syndrome 0
            epidermal nevus syndrome 0
            epidermolysis bullosa simplex 5B, with muscular dystrophy 0
            epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0
            ermine phenotype 0
            euthyroid sick syndrome 0
            even-plus syndrome 0
            exfoliation syndrome 0
            eyebrow duplication-syndactyly syndrome 0
            faciodigitogenital syndrome + 0
            familial chylomicronemia syndrome + 0
            familial episodic pain syndrome with predominantly lower limb involvement 0
            familial infantile bilateral striatal necrosis 0
            familial intestinal malrotation-facial anomalies syndrome 0
            familial long QT syndrome + 0
            familial osteodysplasia, Anderson type 0
            familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0
            ferro-cerebro-cutaneous syndrome 0
            fetal akinesia deformation sequence + 0
            fetal enterovirus syndrome 0
            fg syndrome + 0
            fibromatosis multiple non ossifying 0
            fibromyalgia 0
            fibular aplasia-ectrodactyly syndrome 0
            finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 0
            foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0
            fragile X syndrome 0
            fragile X-associated tremor/ataxia syndrome 0
            frontofacionasal dysplasia 0
            genitopatellar syndrome 0
            gingival fibromatosis-facial dysmorphism syndrome 0
            glaucoma-sleep apnea syndrome 0
            global developmental delay with or without impaired intellectual development 0
            global developmental delay, progressive ataxia, and elevated glutamine 0
            global developmental delay-osteopenia-ectodermal defect syndrome 0
            gray platelet syndrome 0
            growth delay-hydrocephaly-lung hypoplasia syndrome 0
            growth hormone insensitivity syndrome + 0
            growth retardation-mild developmental delay-chronic hepatitis syndrome 0
            hair defect with photosensitivity and intellectual disability syndrome 0
            hand-foot-genital syndrome 0
            hantavirus pulmonary syndrome 0
            hearing impairment and infertile male syndrome 0
            hearing loss-familial salivary gland insensitivity to aldosterone syndrome 0
            heart-hand syndrome + 0
            hemophagocytic syndrome + 0
            hepatic fibrosis-renal cysts-intellectual disability syndrome 0
            hepatorenal syndrome 0
            hereditary benign intraepithelial dyskeratosis 0
            hereditary continuous muscle fiber activity 0
            hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0
            hereditary sensory and autonomic neuropathy with deafness and global delay 0
            high myopia-sensorineural deafness syndrome 0
            holoprosencephaly + 0
            holoprosencephaly-postaxial polydactyly syndrome 0
            human HOXA1 syndromes + 0
            hydrocephalus-blue sclerae-nephropathy syndrome 0
            hydrocephalus-obesity-hypogonadism syndrome 0
            hydrocephaly-cerebellar agenesis syndrome 0
            hypergonadotropic hypogonadism-cataract syndrome 0
            hypertrichotic osteochondrodysplasia Cantu type 0
            hypogonadism-mitral valve prolapse-intellectual disability syndrome 0
            hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 0
            hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0
            hypoparathyroidism-deafness-renal disease syndrome 0
            hypoparathyroidism-retardation-dysmorphism syndrome 0
            hypoplastic left heart syndrome + 0
            hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0
            hypospadias-intellectual disability, Goldblatt type syndrome 0
            hypotonia-cystinuria syndrome + 0
            hypotrichosis-deafness syndrome 0
            hypotrichosis-intellectual disability, Lopes type 0
            hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 0
            ichthyosis linearis circumflexa 0
            ichthyosis prematurity syndrome 0
            ichthyosis-cheek-eyebrow syndrome 0
            ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0
            ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0
            ichthyosis-oral and digital anomalies syndrome 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 0
            imperforate oropharynx-costo vetebral anomalies syndrome 0
            inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 0
            infantile convulsions and choreoathetosis 0
            infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0
            inflammatory bowel disease, immunodeficiency, and encephalopathy 0
            infundibulopelvic stenosis-multicystic kidney syndrome 0
            intellectual developmental disorder with impaired language and dysmorphic facies 0
            intellectual developmental disorder with macrocephaly, seizures, and speech delay 0
            intellectual developmental disorder with short stature and behavioral abnormalities 0
            intellectual developmental disorder with speech delay, autism and dysmorphic facies 0
            intellectual developmental disorder, autosomal recessive 72 0
            intellectual disability, autosomal dominant 29 0
            intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 0
            intellectual disability-cataracts-kyphosis syndrome 0
            intellectual disability-epilepsy-extrapyramidal syndrome 0
            intellectual disability-expressive aphasia-facial dysmorphism syndrome 0
            intellectual disability-hypotonia-skin hyperpigmentation syndrome 0
            intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 0
            intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 0
            intellectual disability-strabismus syndrome 0
            iridocorneal endothelial syndrome + 0
            irritable bowel syndrome 0
            ischio-vertebral syndrome 0
            jaw-winking syndrome + 0
            joint laxity, short stature, and myopia 0
            keratosis follicularis-dwarfism-cerebral atrophy syndrome 0
            laryngeal abductor paralysis-intellectual disability syndrome 0
            laryngo-onycho-cutaneous syndrome 0
            lateral medullary syndrome 0
            left ventricular noncompaction + 0
            left-right axis malformations 0
            lethal congenital contracture syndrome 1 0
            lethal hemolytic anemia-genital anomalies syndrome 0
            lethal multiple pterygium syndrome + 0
            linkeropathy + 0
            lower limb deficiency-hypospadias syndrome 0
            lung agenesis-heart defect-thumb anomalies syndrome 0
            lymphedema-atrial septal defects-facial changes syndrome 0
            lymphedema-cerebral arteriovenous anomaly syndrome 0
            lymphedema-distichiasis syndrome 0
            macrocephaly-short stature-paraplegia syndrome 0
            macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0
            macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0
            mandibulofacial dysostosis with alopecia 0
            megacystis-microcolon-intestinal hypoperistalsis syndrome + 0
            megalencephaly-polydactyly syndrome 0
            mesomelic dwarfism-cleft palate-camptodactyly syndrome 0
            metaphyseal chondrodysplasia, Jansen type 0
            metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 0
            metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 0
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 0
            microcephalic osteodysplastic primordial dwarfism types I and III + 0
            microcephalic primordial dwarfism due to RTTN deficiency + 0
            microcephalic primordial dwarfism, Alazami type 0
            microcephalic primordial dwarfism, Toriello type 0
            microcephaly and chorioretinopathy 1 0
            microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0
            microcephaly-brachydactyly-kyphoscoliosis syndrome 0
            microcephaly-brain defect-spasticity-hypernatremia syndrome 0
            microcephaly-capillary malformation syndrome 0
            microcephaly-complex motor and sensory axonal neuropathy syndrome 0
            microcephaly-microcornea syndrome, Seemanova type 0
            microlissencephaly-micromelia syndrome 0
            microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 0
            miliaria + 0
            mirror polydactyly-vertebral segmentation-limbs defects syndrome 0
            mitochondrial DNA depletion syndrome 4a 0
            mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0
            mitochondrial neurogastrointestinal encephalomyopathy 0
            monosomy 13q34 0
            motor developmental delay due to 14q32.2 paternally expressed gene defect + 0
            mucopolysaccharidosis type 2 + 0
            mucopolysaccharidosis type 3 + 0
            mucopolysaccharidosis type 4 + 0
            mucopolysaccharidosis type 6 + 0
            mulibrey nanism 0
            mullerian derivatives-lymphangiectasia-polydactyly syndrome 0
            mullerian duct anomalies-limb anomalies syndrome 0
            multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0
            multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 0
            multiple synostoses syndrome + 0
            muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0
            muscular pseudohypertrophy-hypothyroidism syndrome 0
            myoclonic-astatic epilepsy 0
            myopathy-growth delay-intellectual disability-hypospadias syndrome 0
            myotonic syndrome + 0
            nail-patella syndrome 0
            nasopalpebral lipoma-coloboma syndrome 0
            neonatal aspiration syndrome + 0
            neonatal ichthyosis-sclerosing cholangitis syndrome 0
            neoplastic syndrome + 0
            nephrogenic diabetes insipidus-intracranial calcification syndrome 0
            nephronophthisis 1 0
            nephropathy - deafness - hyperparathyroidism syndrome 0
            nephrosis-deafness-urinary tract-digital malformations syndrome 0
            nephrotic syndrome + 0
            neurodevelopmental disorder with absent language and variable seizures 0
            neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0
            neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0
            neurodevelopmental disorder with macrocephaly and with or without seizures 0
            neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 0
            neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0
            neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements 0
            neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 0
            neuroleptic malignant syndrome 0
            neurooculocardiogenitourinary syndrome 0
            nodular neuronal heterotopia + 0
            obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 0
            obstructive sleep apnea + 0
            oculo-skeletal-renal syndrome 0
            oculocerebrodental syndrome 0
            oculocerebrofacial syndrome, Kaufman type 0
            oculocerebrorenal syndrome 0
            oculodental syndrome, Rutherfurd type 0
            oculogastrointestinal-neurodevelopmental syndrome 0
            oculomaxillofacial dysostosis + 0
            olivopontocerebellar atrophy-deafness syndrome 0
            ornithine translocase deficiency 0
            orofaciodigital syndrome I 0
            oromandibular-limb anomalies syndrome + 0
            osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0
            osteopenia-intellectual disability-sparse hair syndrome 0
            osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 0
            osteoporosis-pseudoglioma syndrome 0
            osteosclerosis-ichthyosis-premature ovarian failure syndrome 0
            otopalatodigital syndrome type 1 0
            palindromic rheumatism 0
            palmoplantar keratoderma-esophageal carcinoma syndrome 0
            palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome + 0
            pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0
            paraneoplastic syndrome + 0
            paraplegia-intellectual disability-hyperkeratosis syndrome 0
            parkinsonism-dystonia, infantile + 0
            peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0
            pelvis syndrome 0
            pentasomy X 0
            peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0
            peroxisome biogenesis disorder + 0
            persian gulf syndrome 0
            pili torti-developmental delay-neurological abnormalities syndrome 0
            pituitary stalk interruption syndrome 0
            polycystic ovary syndrome 0
            polydactyly-macrocephaly syndrome 0
            polydactyly-myopia syndrome 0
            polyendocrine-polyneuropathy syndrome 0
            polymyalgia rheumatica 0
            polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 0
            post-infectious syndrome + 0
            postaxial acrofacial dysostosis 0
            postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0
            posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0
            primary ciliary dyskinesia + 0
            primary hypergonadotropic hypogonadism-partial alopecia syndrome 0
            primary hypertrophic osteoarthropathy + 0
            primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 0
            progeria-short stature-pigmented nevi syndrome 0
            progressive familial intrahepatic cholestasis + 0
            progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0
            progressive supranuclear palsy + 0
            proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 0
            prune belly syndrome 0
            psoriatic arthritis + 0
            ptosis-strabismus-ectopic pupils syndrome 0
            ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 0
            ptosis-vocal cord paralysis syndrome 0
            radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0
            radioulnar synostosis-microcephaly-scoliosis syndrome 0
            recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 0
            reflex sympathetic dystrophy 0
            renal coloboma syndrome 0
            renal cysts and diabetes syndrome 0
            retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0
            retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0
            ring chromosome 10 0
            ring chromosome 13 0
            scalp defects-postaxial polydactyly syndrome 0
            scimitar syndrome 0
            septooptic dysplasia 0
            severe dermatitis-multiple allergies-metabolic wasting syndrome 0
            severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 0
            severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 0
            shone complex 0
            short fifth metacarpals-insulin resistance syndrome 0
            short rib-polydactyly syndrome + 0
            short stature and microcephaly with genital anomalies 0
            short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 0
            short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 0
            shoulder and girdle defects-familial intellectual disability syndrome 0
            sick sinus syndrome + 0
            sickle cell-beta-thalassemia disease syndrome 0
            sickle cell-hemoglobin E disease syndrome 0
            sickle cell-hemoglobin c disease syndrome 0
            sickle cell-hemoglobin d disease syndrome 0
            skeletal dysplasia-epilepsy-short stature syndrome 0
            skin fragility-woolly hair-palmoplantar keratoderma syndrome 0
            spastic ataxia-corneal dystrophy syndrome 0
            spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0
            spina bifida-hypospadias syndrome 0
            spondylocostal dysostosis-anal and genitourinary malformations syndrome 0
            spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0
            subaortic stenosis-short stature syndrome 0
            subclavian steal syndrome 0
            subcortical band heterotopia + 0
            substance withdrawal syndrome + 0
            sweet syndrome 0
            syndactyly-polydactyly-ear lobe syndrome 0
            syndactyly-telecanthus-anogenital and renal malformations syndrome 0
            syndromic agammaglobulinemia + 0
            syndromic congenital sodium diarrhea 0
            syndromic craniosynostosis + 0
            syndromic dyslipidemia + 0
            syndromic intellectual disability + 0
            syndromic lymphedema 0
            syndromic microphthalmia + 0
            syndromic oculocutaneous albinism + 0
            syndromic orbital border hypoplasia 0
            syndromic retinitis pigmentosa 0
            syngnathia multiple anomalies 0
            tall stature-scoliosis-macrodactyly of the great toes syndrome 0
            tarsal tunnel syndrome 0
            temtamy preaxial brachydactyly syndrome 0
            tethered spinal cord syndrome 0
            tetrasomy 12p 0
            thoracic outlet syndrome + 0
            thoraco-abdominal enteric duplication 0
            thrombocytopenia-absent radius syndrome 0
            thyrocerebrorenal syndrome 0
            torticollis-keloids-cryptorchidism-renal dysplasia syndrome 0
            trigonocephaly-short stature-developmental delay syndrome 0
            triple-A syndrome 0
            trisomy 13 + 0
            trisomy 18 + 0
            trisomy X 0
            tubular renal disease-cardiomyopathy syndrome 0
            type 2 collagenopathy + 0
            ulnar hypoplasia-split foot syndrome 0
            ulnar-mammary syndrome 0
            umbilical cord ulceration-intestinal atresia syndrome 0
            van den Bosch syndrome 0
            visceral heterotaxy + 0
            white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 0
            wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 0
            xeroderma pigmentosum-Cockayne syndrome complex + 0
            xerosis and growth failure with immune and pulmonary dysfunction syndrome 0
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