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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:genetic disorder
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Accession:EFO:0000508 term browser browse the term
Definition:A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be). Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.
Synonyms:exact_synonym: DOID:630;   NCIT:C3101;   hereditary disease;   hereditary disease or disorder;   hereditary diseases;   http://identifiers.org/medgen/5527;   http://identifiers.org/mesh/D030342;   http://identifiers.org/snomedct/32895009;   http://linkedlifedata.com/resource/umls/id/C0019247;   inherited disease;   inherited genetic disease;   molecular disease
 narrow_synonym: Mendelian disease
 broad_synonym: genetic condition;   genetic disease
 related_synonym: familial disorder;   inborn disorder
 xref: DOID:630;   ICD9:799.89;   MEDGEN:5527;   MESH:D030342;   MONDO:0003847;   NCI:C3101;   SCTID:32895009;   UMLS:C0019247
 external_ontology: in_taxon EFO:NCBITaxon:9606



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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            17q11.2 microduplication syndrome 0
            3MC syndrome + 0
            46,XX sex reversal 1 0
            46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 0
            46,xx sex reversal 5 0
            7q11.23 microduplication syndrome + 0
            ACCES syndrome 0
            ACTH-independent macronodular adrenal hyperplasia 1 0
            ACTN3 deficiency 0
            AKT3-related overgrowth spectrum + 0
            AP-4 deficiency syndrome 0
            Abruzzo-Erickson syndrome 0
            Adams-Oliver syndrome 0
            Al-Gazali syndrome 0
            Alazami-Yuan syndrome 0
            Alkuraya-Kucinskas syndrome 0
            Aortic Coarctation + 0
            Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0
            Armfield syndrome 0
            Arts syndrome 0
            Atelis syndrome + 0
            Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 0
            Axenfeld-Rieger syndrome + 0
            B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0
            BAFopathy + 0
            BDV syndrome 0
            Bamforth-Lazarus syndrome 0
            Baralle-Macken syndrome 0
            Basilicata-Akhtar syndrome 0
            Beck-Fahrner syndrome 0
            Birbeck granule deficiency 0
            Boudin-Mortier syndrome 0
            Brachymorphism-onychodysplasia-dysphalangism syndrome 0
            Braddock-Carey syndrome + 0
            Bryant-Li-Bhoj neurodevelopmental syndrome + 0
            Buratti-Harel syndrome 0
            CDKL5 disorder + 0
            CEBALID syndrome 0
            CHAND syndrome 0
            CLAPO syndrome 0
            COL4A1-related disorder + 0
            CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy + 0
            Camptosynpolydactyly, complex 0
            Cardiac-urogenital syndrome 0
            Carey-Fineman-Ziter syndrome 0
            Caroli Disease 0
            Catifa syndrome 0
            Central precocious puberty + 0
            Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 0
            Chiari malformation + 0
            Chitayat syndrome 0
            Chopra-Amiel-Gordon syndrome 0
            Christianson syndrome 0
            Chromosomal anomaly + 0
            Chudley-McCullough syndrome 0
            Coffin-Siris syndrome + 0
            Cohen-Gibson syndrome 0
            Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 0
            Congenital deficiency in alpha-fetoprotein 0
            Cornelia de Lange syndrome 0
            Coxa Vara 0
            Crane-Heise syndrome 0
            DEGCAGS syndrome 0
            DICER1-related tumor predisposition + 0
            DOORS syndrome 0
            DeSanto-Shinawi syndrome due to WAC point mutation 0
            Delpire-McNeill syndrome 0
            Desbuquois dysplasia + 0
            Developmental delay with variable intellectual impairment and behavioural abnormalities 0
            Disorder of amino acid and other organic acid metabolism + 0
            Disorder of biogenic amine metabolism and transport + 0
            Disorder of carbohydrate metabolism + 0
            Disorder of energy metabolism + 0
            Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + 0
            Disorder of lipid metabolism + 0
            Disorder of porphyrin and haem metabolism + 0
            Disorder of purine or pyrimidine metabolism + 0
            Disorder of vitamin and non-protein cofactor absorption and transport  + 0
            EDICT syndrome 0
            EN1-related dorsoventral syndrome + 0
            EPHB4-associated vascular malformation spectrum + 0
            Ehlers-Danlos syndrome + 0
            Elsahy-Waters syndrome 0
            Emanuel syndrome 0
            Ewing sarcoma + 0
            FRAXF syndrome 0
            Faundes-Banka syndrome 0
            Floating-Harbor syndrome 0
            Fowler syndrome 0
            Fuchs' endothelial dystrophy + 0
            GATA1-Related X-Linked Cytopenia + 0
            GCGR-related hyperglucagonemia 0
            GRACILE syndrome 0
            Gabriele de Vries syndrome 0
            Gamstorp-Wohlfart syndrome 0
            Genetic hyperferritinemia without iron overload 0
            Goldberg-Shprintzen syndrome 0
            Grant syndrome 0
            Guttmacher syndrome 0
            Hashimoto's thyroiditis 0
            Hengel-Maroofian-Schols syndrome 0
            Hereditary persistence of alpha-fetoprotein 0
            Heyn-Sproul-Jackson syndrome 0
            Hirschsprung disease 0
            Houge-Janssens syndrome + 0
            Huppke-Brendel syndrome 0
            Hydatidiform Mole + 0
            IVIC syndrome 0
            IgE responsiveness, atopic 0
            Imagawa-Matsumoto syndrome 0
            Inherited cancer-predisposing syndrome + 0
            Jaberi-Elahi syndrome 0
            Jalili syndrome 0
            Jawad syndrome 0
            Juberg-Hayward syndrome 0
            Kabuki syndrome 0
            Karsch-Neugebauer syndrome 0
            Kartagener Syndrome 0
            Kaya-Barakat-Masson syndrome 0
            Keipert syndrome 0
            Khan-Khan-Katsanis syndrome 0
            Kilquist syndrome 0
            Kleefstra syndrome + 0
            Klinefelter's syndrome 0
            Klippel-Feil syndrome + 0
            Kohlschutter-Tonz syndrome-like 0
            Koolen-de Vries syndrome + 0
            Kury-Isidor syndrome 0
            L-ferritin deficiency 0
            LTBP2-related ocular dysgenesis + 0
            Lessel-Kreienkamp syndrome 0
            Leukocyte-Adhesion Deficiency Syndrome 0
            Leydig cell hypoplasia, type 1 + 0
            Li-Campeau syndrome 0
            Li-Ghorbani-Weisz-Hubshman syndrome 0
            Liang-Wang syndrome 0
            Liberfarb syndrome 0
            Lisch epithelial corneal dystrophy 0
            Long-Olsen-Distelmaier syndrome 0
            Lui-Jee-Baron syndrome 0
            Luo-Schoch-Yamamoto syndrome 0
            Luscan-Lumish syndrome 0
            Lysosomal disease + 0
            MIRAGE syndrome 0
            MOMO syndrome 0
            MORM syndrome 0
            Malan overgrowth syndrome 0
            Mazabraud syndrome 0
            Meacham syndrome 0
            Meckel's diverticulum 0
            Meesmann corneal dystrophy + 0
            Melhem-Fahl syndrome 0
            Mendelian encephalopathy + 0
            Menke-Hennekam syndrome 0
            Mullegama-Klein-Martinez syndrome 0
            Mungan syndrome 0
            N-acetylaspartate deficiency 0
            NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction + 0
            Nance-Horan syndrome 0
            Nizon-Isidor syndrome 0
            O'Donnell-Luria-Rodan syndrome 0
            Obesity Hypoventilation Syndrome 0
            Okt4 epitope deficiency 0
            Opitz G/BBB syndrome + 0
            Other metabolic disease + 0
            PMP22-RAI1 contiguous gene duplication syndrome 0
            POLR3A-related disorder + 0
            POLR3B-related disorder + 0
            Parathyroid Gland Carcinoma 0
            Perlman syndrome 0
            Peroxisomal beta-oxidation disorder + 0
            Phelan-McDermid syndrome 0
            Pierre Robin syndrome-faciodigital anomaly syndrome 0
            Pilotto syndrome 0
            Pitt-Hopkins syndrome 0
            Pitt-Hopkins-like syndrome 2 0
            Potocki-Lupski syndrome 0
            Primrose syndrome 0
            Pseudofolliculitis barbae 0
            RECON progeroid syndrome 0
            RNU4ATAC spectrum disorder + 0
            Rabson-Mendenhall syndrome 0
            Radio-Tartaglia syndrome 0
            Rajab interstitial lung disease with brain calcifications + 0
            Ramon syndrome 0
            Rare genetic bone disease + 0
            Rare genetic cardiac disease + 0
            Rare genetic deafness + 0
            Rare genetic developmental defect during embryogenesis + 0
            Rare genetic disease with myoclonus as a major feature + 0
            Rare genetic endocrine disease + 0
            Rare genetic eye disease + 0
            Rare genetic female infertility + 0
            Rare genetic gastroenterological disease + 0
            Rare genetic hematologic disease + 0
            Rare genetic hepatic disease + 0
            Rare genetic immune disease + 0
            Rare genetic male infertility + 0
            Rare genetic neurological disorder + 0
            Rare genetic odontologic disease + 0
            Rare genetic renal disease + 0
            Rare genetic respiratory disease + 0
            Rare genetic skin disease + 0
            Rare genetic systemic or rheumatologic disease + 0
            Rare genetic tumor + 0
            Rare genetic urogenital disease + 0
            Rare genetic vascular disease + 0
            Rauch-Steindl syndrome 0
            Raynaud disease 0
            Reynolds syndrome 0
            Robin sequence-oligodactyly syndrome 0
            Rombo syndrome 0
            Roussy-Levy syndrome 0
            SEC61A1 deficiency + 0
            STAT3 gain of function 0
            Schnyder corneal dystrophy 0
            Shashi-Pena syndrome 0
            Short stature, Dauber-Argente type 0
            Sifrim-Hitz-Weiss syndrome 0
            Silver-Russell syndrome + 0
            Simpson-Golabi-Behmel syndrome type 2 0
            Skraban-Deardorff syndrome 0
            Stuve-Wiedemann syndrome + 0
            Suleiman-El-Hattab syndrome 0
            T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0
            T-substance anomaly 0
            THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0
            TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations + 0
            TRAF3 haploinsufficiency 0
            TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 0
            Tan-Almurshedi syndrome 0
            Teebi hypertelorism syndrome + 0
            Tenorio syndrome 0
            Tessadori-Van-Haaften neurodevelopmental syndrome + 0
            Tolchin-Le Caignec syndrome 0
            Upington disease 0
            Usmani-Riazuddin syndrome, autosomal dominant 0
            Usmani-Riazuddin syndrome, autosomal recessive 0
            VACTERL with hydrocephalus + 0
            VISS syndrome 0
            Vissers-Bodmer syndrome 0
            Warburg-Cinotti syndrome 0
            Warsaw breakage syndrome 0
            Webb-Dattani syndrome 0
            White-Kernohan syndrome 0
            Wiedemann-Steiner syndrome 0
            X inactivation, familial skewed + 0
            X-linked complicated corpus callosum dysgenesis 0
            X-linked disease + 0
            X-linked dominant chondrodysplasia, Chassaing-Lacombe type 0
            XFE progeroid syndrome 0
            Yao syndrome 0
            Yuksel-Vogel-Bauer syndrome 0
            Zaki syndrome 0
            Zimmermann-Laband syndrome + 0
            ablepharon macrostomia syndrome 0
            absence deformity of leg-cataract syndrome 0
            absent radius-anogenital anomalies syndrome 0
            acetyl-CoA acetyltransferase-2 deficiency 0
            acrofacial dysostosis + 0
            acroleukopathy, symmetric 0
            acroosteolysis-keloid-like lesions-premature aging syndrome 0
            adenosine triphosphatase deficiency, anemia due to 0
            aganglionosis, total intestinal 0
            agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0
            agnathia-otocephaly complex 0
            alcohol sensitivity, acute 0
            alopecia - intellectual disability syndrome 0
            alopecia-epilepsy-pyorrhea-intellectual disability syndrome 0
            alpha-thalassemia-myelodysplastic syndrome 0
            alveolar soft part sarcoma + 0
            amelogenesis imperfecta + 0
            androgen insensitivity syndrome + 0
            anemia, hypochromic microcytic with iron overload + 0
            angiokeratoma corporis diffusum with arteriovenous fistulas 0
            angioosteohypertrophic syndrome 0
            anhaptoglobinemia 0
            aniridia - intellectual disability syndrome 0
            aniridia-absent patella syndrome 0
            aniridia-renal agenesis-psychomotor retardation syndrome 0
            ankyloglossia 0
            anodontia 0
            anterior segment dysgenesis + 0
            aplasia of lacrimal and salivary glands 0
            apparent mineralocorticoid excess syndrome 0
            arcus senilis 0
            arhinia, choanal atresia, and microphthalmia + 0
            ariboflavinosis + 0
            arterial calcification of infancy + 0
            arteriovenous malformations of the brain 0
            arthritis, sacroiliac 0
            arthrogryposis multiplex congenita + 0
            arthrogryposis, Perthes disease, and upward gaze palsy 0
            arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0
            asthma, nasal polyps, and aspirin intolerance 0
            ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0
            ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 0
            atelosteogenesis + 0
            atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 0
            atrichia with papular lesions 0
            atrioventricular dissociation + 0
            autoinflammation with arthritis and dyskeratosis 0
            autoinflammation with pulmonary and cutaneous vasculitis 0
            autoinflammation, immune dysregulation, and eosinophilia 0
            autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 0
            autosomal dominant deafness - onychodystrophy syndrome 0
            autosomal dominant wooly hair 0
            autosomal genetic disease + 0
            autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 0
            azoospermia + 0
            azoospermia, obstructive, with nephrolithiasis 0
            beta-aminoisobutyric acid, urinary excretion of 0
            bilateral microtia-deafness-cleft palate syndrome 0
            bile acid conjugation defect 1 0
            bile acid malabsorption, primary, 1 0
            biliary, renal, neurologic, and skeletal syndrome 0
            bipartite talus 0
            bladder diverticulum 0
            blepharophimosis - intellectual disability syndrome, SBBYS type 0
            blepharophimosis-impaired intellectual development syndrome 0
            blistering, acantholytic, of oral and laryngeal mucosa 0
            bone marrow failure syndrome + 0
            brachycephaly, trichomegaly, and developmental delay 0
            brachydactyly + 0
            brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 0
            branchiootic syndrome 0
            bronchiectasis + 0
            bullous dystrophy, macular type 0
            camptodactyly syndrome, Guadalajara + 0
            capillary infantile hemangioma 0
            capillary malformation-arteriovenous malformation syndrome + 0
            carcinoid syndrome 0
            cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0
            cardiac valvular defect + 0
            cardiac, facial, and digital anomalies with developmental delay 0
            cardioacrofacial dysplasia + 0
            cardiofacioneurodevelopmental syndrome 0
            cardiogenetic disease + 0
            cat-eye syndrome 0
            cataract + 0
            cataracts, hearing impairment, nephrotic syndrome, and enterocolitis + 0
            caudal duplication 0
            cavernous hemangiomas of face-supraumbilical midline raphe syndrome 0
            celiac disease 0
            central areolar choroidal dystrophy + 0
            central centrifugal cicatricial alopecia 0
            central hypoventilation syndrome, congenital + 0
            cerebellar ataxia, brain abnormalities, and cardiac conduction defects 0
            cerebellar atrophy, developmental delay, and seizures 0
            cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 0
            cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 0
            cerebellar, ocular, craniofacial, and genital syndrome 0
            cerebelloparenchymal disorder + 0
            cerebral arteriopathy with subcortical infarcts and leukoencephalopathy + 0
            cervical spondylosis 0
            channelopathy-associated congenital insensitivity to pain, autosomal recessive 0
            chitotriosidase deficiency 0
            choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0
            choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0
            cholestasis-pigmentary retinopathy-cleft palate syndrome 0
            chondrodysplasia-pseudohermaphroditism syndrome 0
            chorea, childhood-onset, with psychomotor retardation 0
            chromosome 15q24 deletion syndrome 0
            chromosome 16p12.1 deletion syndrome, 520kb 0
            chromosome 1p32-p31 deletion syndrome 0
            chromosome-defective micronuclei 0
            chronic atrial and intestinal dysrhythmia 0
            ciliopathy + 0
            cirrhosis, familial + 0
            clcn4-related disorder 0
            cleft palate, proliferative retinopathy, and developmental delay 0
            cleft palate-large ears-small head syndrome 0
            cocoon syndrome 0
            cognitive impairment with or without cerebellar ataxia 0
            coloboma, ocular, autosomal dominant + 0
            coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 0
            combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 0
            combined low LDL and fibrinogen 0
            combined oxidative phosphorylation deficiency 49 0
            combined oxidative phosphorylation deficiency 50 0
            cone-rod dystrophy and hearing loss 0
            cone-rod synaptic disorder syndrome, congenital nonprogressive 0
            congenital analbuminemia 0
            congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0
            congenital bilateral absence of vas deferens + 0
            congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0
            congenital contractures of the limbs and face, hypotonia, and developmental delay 0
            congenital diarrhea + 0
            congenital enteropathy due to enteropeptidase deficiency 0
            congenital heart defects and ectodermal dysplasia 0
            congenital heart defects and skeletal malformations syndrome 0
            congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0
            congenital heart defects, multiple types, 7 0
            congenital heart malformation + 0
            congenital hereditary endothelial dystrophy of cornea 0
            congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0
            congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 0
            congenital pseudoarthrosis of clavicle 0
            congenital pseudoarthrosis of the limbs + 0
            congenital short bowel syndrome, autosomal recessive 0
            congenital stromal corneal dystrophy 0
            congenital vertical talus + 0
            contractures, pterygia, and variable skeletal fusions syndrome + 0
            cornea plana + 0
            corneal dystrophy, punctiform and polychromatic pre-descemet 0
            corneal dystrophy-perceptive deafness syndrome 0
            corpus callosum agenesis-abnormal genitalia syndrome 0
            cortical dysplasia-focal epilepsy syndrome 0
            corticosteroid-binding globulin deficiency 0
            corticosterone methyloxidase type 2 deficiency 0
            craniofacial anomalies and anterior segment dysgenesis syndrome 0
            craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 0
            craniofacial dysplasia - osteopenia syndrome 0
            craniofacial-deafness-hand syndrome 0
            craniolenticulosutural dysplasia 0
            craniometadiaphyseal osteosclerosis with hip dysplasia 0
            craniosynostosis + 0
            cryptorchidism 0
            cyanosis, transient neonatal + 0
            cyclic hematopoiesis 0
            cystic disease of lung 0
            cystic fibrosis-gastritis-megaloblastic anemia syndrome 0
            de Sanctis-Cacchione syndrome 0
            deafness with labyrinthine aplasia, microtia, and microdontia 0
            deafness, congenital heart defects, and posterior embryotoxon 0
            deafness, congenital, and adult-onset progressive leukoencephalopathy 0
            deafness-ear malformation-facial palsy syndrome 0
            deafness-epiphyseal dysplasia-short stature syndrome 0
            deafness-small bowel diverticulosis-neuropathy syndrome 0
            deafness-vitiligo-achalasia syndrome 0
            deeah syndrome 0
            delayed puberty, self-limited 0
            dentin dysplasia type I + 0
            dentin dysplasia type II 0
            dentin dysplasia-sclerotic bones syndrome 0
            dentinogenesis imperfecta type 2 + 0
            dentinogenesis imperfecta type 3 0
            developmental delay with dysmorphic facies and dental anomalies 0
            developmental delay with hypotonia, myopathy, and brain abnormalities 0
            developmental delay with or without dysmorphic facies and autism 0
            developmental delay with or without intellectual impairment or behavioral abnormalities 0
            developmental delay with short stature, dysmorphic facial features, and sparse hair + 0
            developmental delay with variable intellectual disability and dysmorphic facies 0
            developmental delay with variable intellectual impairment and behavioral abnormalities 0
            developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0
            developmental delay, hypotonia, and impaired language 0
            developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0
            developmental delay, impaired speech, and behavioral abnormalities 0
            developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0
            developmental delay, language impairment, and ocular abnormalities 0
            developmental dysplasia of the hip 0
            diabetes, deafness, developmental delay, and short stature syndrome 0
            diaphragmatic eventration 0
            diencephalic-mesencephalic junction dysplasia 0
            diffuse idiopathic skeletal hyperostosis 0
            disabling pansclerotic morphea of childhood 0
            distal arthrogryposis + 0
            distal monosomy 10p 0
            distal symphalangism 0
            dwarfism, intellectual disability, and eye abnormality 0
            dyskinesia with orofacial involvement + 0
            dysmorphism-cleft palate-loose skin syndrome 0
            dysraphism-cleft lip/palate-limb reduction defects syndrome 0
            ear malformation + 0
            early repolarization associated with ventricular fibrillation 0
            ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 0
            ectopia lentis 1, isolated, autosomal dominant 0
            ectrodactyly and ectodermal dysplasia without cleft lip/palate 0
            embryonal rhabdomyosarcoma + 0
            endocrine-cerebro-osteodysplasia syndrome 0
            enterocolitis + 0
            epilepsy, hearing loss, and intellectual disability syndrome 0
            epithelial recurrent erosion dystrophy 0
            epithelial-stromal TGFBI dystrophy + 0
            erythromelalgia + 0
            essential hypertension, genetic 0
            exercise intolerance, riboflavin-responsive 0
            exostoses-anetodermia-brachydactyly type E syndrome 0
            extraoral halitosis due to methanethiol oxidase deficiency 0
            facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0
            facial dysmorphism-immunodeficiency-livedo-short stature syndrome 0
            facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 0
            facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0
            familial abdominal aortic aneurysm + 0
            familial caudal dysgenesis + 0
            familial cavitary optic disk anomaly 0
            familial cervical artery dissection 0
            familial clubfoot with or without associated lower limb anomalies + 0
            familial colorectal cancer + 0
            familial gestational hyperthyroidism 0
            familial glucocorticoid deficiency 0
            familial hemolytic anemia + 0
            familial hyperaldosteronism + 0
            familial hyperthyroidism due to mutations in TSH receptor 0
            familial male-limited precocious puberty 0
            familial melanoma 0
            familial monosomy 7 syndrome + 0
            familial nonmedullary thyroid carcinoma + 0
            familial osteosclerosis + 0
            familial ovarian cancer + 0
            familial pancreatic carcinoma 0
            familial parathyroid adenoma 0
            familial polycythemia + 0
            familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 0
            familial spontaneous pneumothorax 0
            familial thoracic aortic aneurysm and aortic dissection + 0
            familial thrombocytosis + 0
            familial vesicoureteral reflux + 0
            febrile seizures, familial + 0
            fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0
            fibrodysplasia ossificans progressiva 0
            fibromuscular dysplasia 0
            fibromuscular dysplasia, multifocal 0
            fibrosclerosis, multifocal 0
            fibrosis, neurodegeneration, and cerebral angiomatosis 0
            fleck corneal dystrophy 0
            focal epithelial hyperplasia 0
            focal segmental glomerulosclerosis and neurodevelopmental syndrome 0
            foveal hypoplasia + 0
            fragile X syndrome 0
            frontonasal dysplasia + 0
            fucosyltransferase 6 deficiency 0
            fused mandibular incisors 0
            gastric mucosal hypertrophy 0
            gastroesophageal reflux disease + 0
            gastrointestinal stromal tumor 0
            gastroschisis 0
            gelatinous drop-like corneal dystrophy 0
            genitourinary and/or brain malformation syndrome 0
            glaucoma, primary closed-angle 0
            global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 0
            global developmental delay with or without impaired intellectual development 0
            global developmental delay with speech and behavioral abnormalities 0
            global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0
            glomuvenous malformation 0
            glucocorticoid therapy, response to 0
            gonadal agenesis 0
            gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 0
            grange syndrome 0
            granulocytopenia with immunoglobulin abnormality 0
            growth delay due to insulin-like growth factor I resistance 0
            growth delay due to insulin-like growth factor type 1 deficiency 0
            growth hormone insensitivity syndrome with immune dysregulation + 0
            growth hormone-secreting pituitary adenoma 0
            growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0
            growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0
            growth retardation-mild developmental delay-chronic hepatitis syndrome 0
            hearing loss, noise-induced, susceptibility to 0
            heart defect - tongue hamartoma - polysyndactyly syndrome 0
            heart-hand syndrome + 0
            hematuria, benign familial + 0
            hepatorenocardiac degenerative fibrosis 0
            hereditary arterial and articular multiple calcification syndrome 0
            hereditary breast carcinoma 0
            hereditary chronic pancreatitis 0
            hereditary dementia + 0
            hereditary disorder of connective tissue + 0
            hereditary fallopian tube carcinoma 0
            hereditary gallbladder disorder + 0
            hereditary gastric cancer + 0
            hereditary gingival fibromatosis 0
            hereditary glaucoma + 0
            hereditary hyperferritinemia with congenital cataracts 0
            hereditary hyperparathyroidism + 0
            hereditary hypoparathyroidism + 0
            hereditary hypophosphatemic rickets + 0
            hereditary hypotrichosis with recurrent skin vesicles 0
            hereditary neoplastic syndrome + 0
            hereditary neuroendocrine tumor of small intestine 0
            hereditary neurological disease + 0
            hereditary neutrophilia 0
            hereditary otorhinolaryngologic disease + 0
            hereditary pulmonary alveolar proteinosis + 0
            hereditary sensory and autonomic neuropathy with deafness and global delay 0
            hereditary skeletal muscle disorder + 0
            hereditary skin disorder + 0
            heritable pulmonary arterial hypertension + 0
            high myopia-sensorineural deafness syndrome 0
            horizontal gaze palsy with progressive scoliosis 0
            humero-radio-ulnar synostosis + 0
            humerofemoral hypoplasia with radiotibial ray deficiency 0
            humeroradial synostosis + 0
            humerus trochlea aplasia 0
            hydroxyprolinemia 0
            hyperbiliverdinemia 0
            hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 0
            hyperopia, high 0
            hyperostosis cranialis interna 0
            hyperpigmentation of eyelid 0
            hyperproinsulinemia 0
            hypersensitivity pneumonitis, familial 0
            hypersulfaturia 0
            hypertelorism and tetralogy of fallot 0
            hypertelorism-preauricular sinus-punctual pits-deafness syndrome 0
            hypertrichotic osteochondrodysplasia Cantu type 0
            hypoalphalipoproteinemia, primary, 2 + 0
            hypogonadotropic hypogonadism + 0
            hypoinsulinemic hypoglycemia and body hemihypertrophy 0
            hypokalemic tubulopathy and deafness 0
            hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 0
            hypoparathyroidism-deafness-renal disease syndrome 0
            hypopigmentation, organomegaly, and delayed myelination and development 0
            hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 0
            hypospadias 0
            hypothyroidism, congenital, nongoitrous + 0
            hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 0
            hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 0
            hypotrichosis + 0
            ichthyosis prematurity syndrome 0
            ichthyosis-cheek-eyebrow syndrome 0
            ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 0
            ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 0
            immune deficiency disease + 0
            immune dysregulation, autoimmunity, and autoinflammation 0
            immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 0
            immunodeficiency disease + 0
            immunodeficiency, developmental delay, and hypohomocysteinemia 0
            imperforate oropharynx-costo vetebral anomalies syndrome 0
            inborn errors of metabolism + 0
            indifference to pain, congenital, autosomal dominant 0
            infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0
            infantile liver failure + 0
            inflammatory bowel disease + 0
            inherited aplastic anemia + 0
            inherited auditory system disease + 0
            inherited bleeding disorder, platelet-type + 0
            inherited blood coagulation disorder + 0
            inherited cutis laxa + 0
            inherited deficiency anemia + 0
            inherited hemoglobinopathy + 0
            inherited hypertrophic pyloric stenosis + 0
            inherited isolated nail anomaly + 0
            inherited kidney disorder + 0
            inherited obesity + 0
            inherited oocyte maturation defect + 0
            inherited primary ovarian failure + 0
            inherited pseudoxanthoma elasticum + 0
            inherited sideroblastic anemia + 0
            inherited thrombocytopenia + 0
            inosine triphosphatase deficiency 0
            insulin-resistance syndrome type A 0
            intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0
            intellectual developmental disorder with autism and dysmorphic facies 0
            intellectual developmental disorder with autistic features and language delay, with or without seizures 0
            intellectual developmental disorder with dysmorphic facies and ptosis 0
            intellectual developmental disorder with hypertelorism and distinctive facies 0
            intellectual developmental disorder with hypotonia and behavioral abnormalities 0
            intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0
            intellectual developmental disorder with macrocephaly, seizures, and speech delay 0
            intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0
            intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0
            intellectual developmental disorder with or without peripheral neuropathy 0
            intellectual developmental disorder with paroxysmal dyskinesia or seizures 0
            intellectual developmental disorder with poor growth and with or without seizures or ataxia 0
            intellectual developmental disorder with seizures and language delay 0
            intellectual developmental disorder with speech delay and axonal peripheral neuropathy 0
            intellectual disability and myopathy syndrome 0
            intellectual disability, FRA12A type 0
            intellectual disability, short stature, facial anomalies, and joint dislocations 0
            intellectual disability-brachydactyly-Pierre Robin syndrome 0
            intellectual disability-epilepsy-extrapyramidal syndrome 0
            intellectual disability-strabismus syndrome 0
            intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 0
            ischio-vertebral syndrome 0
            islet cell adenomatosis + 0
            isolated aniridia 0
            isolated congenital breast hypoplasia/aplasia + 0
            isolated cryptophthalmia + 0
            isolated hyperferritinemia 0
            isolated microphthalmia + 0
            isolated thyrotropin-releasing hormone deficiency 0
            joint contractures, osteochondromas, and B-cell lymphoma 0
            juvenile arthritis due to defect in LACC1 0
            kallikrein, decreased urinary activity of 0
            keratitis fugax hereditaria 0
            keratoconus + 0
            keratoderma hereditarium mutilans 0
            laminopathy + 0
            language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 0
            left-right axis malformations 0
            lethal congenital contracture syndrome + 0
            lethal faciocardiomelic dysplasia 0
            lethal polymalformative syndrome, Boissel type 0
            lethal recessive chondrodysplasia 0
            leukodystrophy and acquired microcephaly with or without dystonia; 0
            leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0
            leukoencephalopathy, hereditary diffuse, with spheroids + 0
            leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0
            leukoencephalopathy, progressive, infantile-onset, with or without deafness 0
            limb transversal defect-cardiac anomaly syndrome 0
            liver disease, severe congenital 0
            lumbar disc degeneration + 0
            lung disease, immunodeficiency, and chromosome breakage syndrome; 0
            lymphatic malformation + 0
            lymphedema-posterior choanal atresia syndrome 0
            macrocephaly, dysmorphic facies, and psychomotor retardation 0
            macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0
            macrocephaly-developmental delay syndrome 0
            maleylacetoacetate isomerase deficiency 0
            mammary-digital-nail syndrome 0
            mandibular hypoplasia-deafness-progeroid syndrome 0
            mandibuloacral dysplasia progeroid syndrome 0
            mandibulofacial dysostosis with mental deficiency 0
            mbd5 associated neurodevelopmental disorder 0
            mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0
            megacystis-microcolon-intestinal hypoperistalsis syndrome + 0
            megalencephaly-polydactyly syndrome 0
            megalocornea + 0
            megalodactyly 0
            menstrual cycle-dependent periodic fever 0
            metachondromatosis 0
            metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 0
            methylmalonic aciduria and homocystinuria type cblE 0
            methylmalonic aciduria and homocystinuria type cblG 0
            microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0
            microcephaly, developmental delay, and brittle hair syndrome 0
            microcephaly, epilepsy, and diabetes syndrome + 0
            microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0
            microcephaly, growth deficiency, seizures, and brain malformations 0
            microcephaly, growth restriction and increased sister chromatid exchange + 0
            microcephaly, short stature, and limb abnormalities 0
            microcephaly-brachydactyly-kyphoscoliosis syndrome 0
            microcephaly-capillary malformation syndrome 0
            microcephaly-micromelia syndrome 0
            microcephaly-thin corpus callosum-intellectual disability syndrome 0
            microspherophakia-metaphyseal dysplasia syndrome 0
            mitochondrial complex 1 deficiency, nuclear type 35 0
            mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0
            mucocutaneous lymph node syndrome 0
            mullerian aplasia and hyperandrogenism 0
            multinodular goiter + 0
            multiple congenital anomalies-hypotonia-seizures syndrome + 0
            multiple congenital anomalies-neurodevelopmental syndrome, X-linked 0
            multiple fibroadenoma of the breast 0
            multiple synostoses syndrome + 0
            multisystemic smooth muscle dysfunction syndrome 0
            muscular dystrophy, adult-onset, with leukoencephalopathy 0
            muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 0
            muscular dystrophy, congenital, with or without seizures 0
            myeloperoxidase deficiency 0
            myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 0
            myopathy, congenital, with excess of muscle spindles 0
            myopia 26, X-linked, female-limited 0
            myopia 27 0
            myopia 28, autosomal recessive 0
            myopia 6 0
            myostatin-related muscle hypertrophy 0
            nanophthalmia + 0
            nephropathy - deafness - hyperparathyroidism syndrome 0
            nephropathy, chronic tubulointerstitial 0
            neurocardiofaciodigital syndrome 0
            neurodegeneration and seizures due to copper transport defect 0
            neurodegeneration with ataxia and late-onset optic atrophy 0
            neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 0
            neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 0
            neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 0
            neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0
            neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 0
            neurodegeneration, infantile-onset, biotin-responsive 0
            neurodevelopmental, jaw, eye, and digital syndrome 0
            neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0
            neuroectodermal melanolysosomal disease 0
            neurofacioskeletal syndrome with or without renal agenesis 0
            neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset + 0
            neuromuscular disease and ocular or auditory anomalies with or without seizures 0
            nonimmune chronic idiopathic neutropenia of adults 0
            obesity, hyperphagia, and developmental delay 0
            oculoauriculovertebral spectrum with radial defects + 0
            oculocerebrofacial syndrome, Kaufman type 0
            oculogastrointestinal-neurodevelopmental syndrome 0
            oculomaxillofacial dysostosis + 0
            oculomotor-abducens synkinesis 0
            oculopharyngeal myopathy with leukoencephalopathy 1 0
            oculotrichoanal syndrome 0
            oligodontia-cancer predisposition syndrome 0
            onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 0
            ophthalmomandibulomelic dysplasia 0
            ophthalmoplegia, external, with rib and vertebral anomalies 0
            orofacial cleft + 0
            orofaciodigital syndrome + 0
            oromandibular-limb hypogenesis syndrome + 0
            osteitis deformans + 0
            osteochondrodysplasia, brachydactyly, and overlapping malformed digits 0
            osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 0
            osteogenesis imperfecta + 0
            osteoglophonic dwarfism 0
            osteonecrosis of genetic origin + 0
            osteootohepatoenteric syndrome 0
            osteoporosis, childhood- or juvenile-onset, with developmental delay 0
            osteoporosis-oculocutaneous hypopigmentation syndrome 0
            ovarian hyperstimulation syndrome 0
            pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 0
            palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0
            pancreatic agenesis + 0
            pancreatic beta cell agenesis with neonatal diabetes mellitus 0
            pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0
            patella aplasia/hypoplasia + 0
            pathological gambling 0
            peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 0
            pellagra-like syndrome 0
            periodic fever, immunodeficiency, and thrombocytopenia syndrome 0
            peripheral arterial occlusive disease 1 0
            peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 0
            peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 0
            pernicious anemia 0
            peroxisome biogenesis disorder, complementation group 7 0
            phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0
            phosphohydroxylysinuria 0
            phosphoribosylaminoimidazole carboxylase deficiency 0
            pigment dispersion syndrome 0
            pigmented purpuric eruption 0
            plasma fibronectin deficiency 0
            platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 0
            polycystic ovary syndrome 0
            polydactyly + 0
            polydactyly-macrocephaly syndrome 0
            polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 0
            pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0
            porencephaly-microcephaly-bilateral congenital cataract syndrome 0
            postaxial tetramelic oligodactyly 0
            posterior polymorphous corneal dystrophy 0
            preeclampsia + 0
            premature chromatid separation trait 0
            preterm premature rupture of the membranes 0
            primary failure of tooth eruption 0
            primary hypertrophic osteoarthropathy + 0
            primary immunodeficiency syndrome due to p14 deficiency 0
            primary intraosseous venous malformation 0
            primary pigmented nodular adrenocortical disease + 0
            progeria + 0
            progressive deafness with stapes fixation 0
            progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0
            progressive non-infectious anterior vertebral fusion 0
            prostate cancer, hereditary + 0
            protein Z deficiency 0
            proteinuria, chronic benign 0
            pseudohyperaldosteronism type 2 0
            ptosis, hereditary congenital, 1 0
            pulmonary alveolar microlithiasis 0
            pulmonary alveolar proteinosis with hypogammaglobulinemia 0
            pulmonary atresia with ventricular septal defect 0
            pulmonary fibrosis and/or bone marrow failure, telomere-related + 0
            pulmonary venoocclusive disease + 0
            pyropoikilocytosis, hereditary 0
            radial deficiency-tibial hypoplasia syndrome 0
            radio-renal syndrome 0
            rasopathy + 0
            recombinant 8 syndrome 0
            renal-hepatic-pancreatic dysplasia + 0
            respiratory infections, recurrent, and failure to thrive with or without diarrhea 0
            respiratory papillomatosis, juvenile recurrent, congenital 0
            restrictive dermopathy + 0
            retinal dystrophy and microvillus inclusion disease 0
            retinal dystrophy with or without macular staphyloma 0
            retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 0
            retinitis pigmentosa 89 0
            retinitis pigmentosa and erythrocytic microcytosis 0
            retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0
            retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 0
            rhizomelic limb shortening with dysmorphic features 0
            ring dermoid of cornea 0
            rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 0
            ryr1-related disorders 0
            sandestig-stefanova syndrome 0
            scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 0
            sclerosteosis + 0
            seizures, early-onset, with neurodegeneration and brain calcifications 0
            serpinopathy + 0
            severe congenital neutropenia + 0
            severe dermatitis-multiple allergies-metabolic wasting syndrome 0
            severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 0
            severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0
            severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0
            short stature due to GHSR deficiency 0
            short stature due to primary acid-labile subunit deficiency 0
            short stature, Brussels type 0
            short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0
            short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies + 0
            short stature, oligodontia, dysmorphic facies, and motor delay 0
            short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0
            shoulder and thorax deformity-congenital heart disease syndrome 0
            skeletal defects, genital hypoplasia, and intellectual disability 0
            skeletal dysplasia + 0
            skeletal dysplasia and progressive central nervous system degeneration, lethal 0
            skeletal dysplasia, mild, with joint laxity and advanced bone age 0
            spastic paraparesis-deafness syndrome 0
            spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 0
            specific granule deficiency 0
            spina bifida + 0
            spinal muscular atrophy, infantile, James type 0
            splenogonadal fusion-limb defects-micrognathia syndrome 0
            split hand-foot malformation + 0
            split-foot malformation-mesoaxial polydactyly syndrome 0
            spondylocostal dysostosis + 0
            spondylocostal dysostosis-anal and genitourinary malformations syndrome 0
            spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0
            spondylolisthesis 0
            spondylometaphyseal dysplasia with corneal dystrophy 0
            squalene synthase deficiency 0
            stag1-related disorder 0
            structural brain anomalies with impaired intellectual development and craniosynostosis 0
            sudden infant death-dysgenesis of the testes syndrome 0
            symphalangism with multiple anomalies of hands and feet 0
            syndactyly + 0
            syndromic microphthalmia + 0
            syndromic multisystem autoimmune disease due to ITCH deficiency 0
            syngnathia multiple anomalies 0
            syngnathia-cleft palate syndrome 0
            tall stature-intellectual disability-renal anomalies syndrome 0
            taurodontism 0
            taurodontism, microdontia, and dens invaginatus 0
            teeth, supernumerary 0
            temtamy syndrome 0
            tethered spinal cord syndrome 0
            tetraamelia-multiple malformations syndrome 0
            tetramelic monodactyly 0
            tetrasomy 18p 0
            thickened earlobes-conductive deafness syndrome 0
            thrombocytopenia, anemia, and myelofibrosis 0
            thrombocytopenia-Robin sequence syndrome 0
            thymoma, familial 0
            thyroid hormone metabolism, abnormal + 0
            tibial aplasia-ectrodactyly syndrome + 0
            tooth agenesis + 0
            tooth ankylosis 0
            tp63-related spectrum disorders 0
            transient infantile hypertriglyceridemia and hepatosteatosis 0
            trichilemmal cyst 0
            trichohepatoneurodevelopmental syndrome 0
            trichomegaly 0
            trichotillomania 0
            triokinase and FMN cyclase deficiency syndrome 0
            triphalangeal thumb-polysyndactyly syndrome 0
            trypsinogen deficiency 0
            turnpenny-fry syndrome 0
            ulna hypoplasia-intellectual disability syndrome 0
            ulnar hypoplasia-split foot syndrome 0
            ureterocele 0
            urinary bladder, atony of 0
            uveal coloboma-cleft lip and palate-intellectual disability 0
            van Maldergem syndrome + 0
            van der Woude syndrome 1 0
            varicella, severe recurrent 0
            ventriculomegaly and arthrogryposis 0
            ventriculomegaly-cystic kidney disease 0
            vertebral anomalies and variable endocrine and T-cell dysfunction 0
            vertebral hypersegmentation and orofacial anomalies 0
            vertebral, cardiac, tracheoesophageal, renal, and limb defects 0
            visceral Leishmaniasis 0
            visceral myopathy 1 + 0
            visceral neuropathy, familial + 0
            visual impairment and progressive phthisis bulbi 0
            vitreoretinopathy with phalangeal epiphyseal dysplasia 0
            volvulus of midgut + 0
            woolly hair-skin fragility syndrome 0
            wooly hair, autosomal recessive 3 0
            wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 0
            xerosis and growth failure with immune and pulmonary dysfunction syndrome 0
            zinc deficiency, transient neonatal 0
            zinc, elevated plasma + 0
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