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Disease	Synonyms	Description	Articles
tibial muscular dystrophy	Finnish tibial muscular dystrophy; Tardive tibial .. [+] Finnish tibial muscular dystrophy; Tardive tibial muscular dystrophy; TMD; Udd type distal myopathy; Udd myopathy; distal titinopathy [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. [-]
maturity-onset diabetes of the young type 5	familial hypoplastic glomerulocystic kidney; atypi.. [+] familial hypoplastic glomerulocystic kidney; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; hypoplastic type glomerulocystic kidney disease; MODY5; renal cysts and diabetes syndrome; atypical FJHN; RCAD [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]	2 articles
isolated ectopia lentis	familial ectopia lentis; IEL	A lens disease characterized by abnormal stretchin..[+] A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. [-]
congenital mirror movement disorder	familial congenital mirror movements; familial con.. [+] familial congenital mirror movements; familial congenital controlateral synkinesia; hereditary congenital controlateral synkinesia; isolated congenital controlateral synkinesia; isolated congenital mirror movements; hereditary congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
postural orthostatic tachycardia syndrome	familial orthostatic tachycardia due to norepineph.. [+] familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	Finkel disease; Finkel late-adult type SMA; autoso.. [+] Finkel late-adult type SMA; Finkel disease; autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; SMAFK [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]
vestibular schwannomatosis	familial acoustic neuromas; ACN; bilateral acousti.. [+] familial acoustic neuromas; ACN; bilateral acoustic neurinoma; bilateral acoustic schwannomas; central neurofibromatosis; NF2; BANF; bilateral acoustic neurofibromatosis; neurofibromatosis type II; acoustic neurofibromatosis; neurofibromatosis 2; NF2-related schwannomatosis; schwannomatosis 3; SWN3; SWNV [-]	A schwannomatosis characterized by bilateral vesti..[+] A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. [-]
neurofibromatosis 1	familial spinal neurofibromatosis; FSNF; neurofibr.. [+] FSNF; familial spinal neurofibromatosis; neurofibromatosis type I; Peripheral Neurofibromatosis; von Recklinghausen Disease; NF1; Recklinghausen's neurofibromatosis [-]	A neurofibromatosis characterized by multiple cafe..[+] A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. [-]	1 articles
histiocytosis-lymphadenopathy plus syndrome	familial Rosai-Dorfman disease; Faisalabad histioc.. [+] familial Rosai-Dorfman disease; Faisalabad histiocytosis; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; SHML; sinus histiocytosis and massive lymphadenopathy; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Rosai–Dorfman disease [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
intellectual disability-severe speech delay-mild dysmorphism syndrome	FOXP1-Related Neurodevelopmental Disorder; FOXP1 s.. [+] FOXP1-Related Neurodevelopmental Disorder; FOXP1 syndrome; FOXP1 Haploinsufficiency; Mental retardation with language impairment and with or without autistic features [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. [-]
primary failure of tooth eruption	familial posterior openbite malocclusion; dental n.. [+] familial posterior openbite malocclusion; dental noneruption; nonsyndromic primary failure of eruption; PFE; primary retention of teeth; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
hereditary desmoid disease	FIF; familial infiltrative fibromatosis	A syndrome characterized by extraintestinal manife..[+] A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. [-]	1 articles
cholesterol-ester transfer protein deficiency	familial hyperalphalipoproteinemia; CEPT deficienc.. [+] familial hyperalphalipoproteinemia; CEPT deficiency [-]	A lipid metabolism disorder characterized by eleva..[+] A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. [-]
selective pituitary thyroid hormone resistance	familial hyperthyroidism due to inappropriate thyr.. [+] familial hyperthyroidism due to inappropriate thyrotropin secretion; pituitary resistance to thyroid hormone; PRTH; selective pituitary resistance to thyroid hormone [-]	A hyperthyroidism characterized by mild to moderat..[+] A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. [-]
solitary median maxillary central incisor	fused incisors; single central maxillary incisor; .. [+] fused incisors; single central maxillary incisor; single median maxillary central incisor; single upper central incisor; SMMCI [-]	A tooth disease characterized by single deciduous ..[+] A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. [-]
restrictive cardiomyopathy 1	familial restrictive cardiomyopathy 1; RCM1	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. [-]
restrictive cardiomyopathy 3	familial restrictive cardiomyopathy 3; RCM3	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. [-]
GRACILE syndrome	Finnish lactic acidosis with hepatic hemosiderosis.. [+] Finnish lactic acidosis with hepatic hemosiderosis; FLNMS; Finnish lethal neonatal metabolic syndrome; Fellman disease; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome; growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death [-]	A mitochondrial disorder characterized by fetal gr..[+] A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. [-]
combined oxidative phosphorylation deficiency 3	Fatal mitochondrial disease due to COXPD3; fatal m.. [+] Fatal mitochondrial disease due to COXPD3; fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; concentric cardiomyopathy, hypotonia, and lactic acidosis; COXPD3; encephalomyopathy, respiratory failure, and lactic acidosis [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. [-]
bilateral optic nerve hypoplasia	familial bilateral optic nerve hypoplasia; isolate.. [+] familial bilateral optic nerve hypoplasia; isolated optic nerve hypoplasia/aplasia; ONH [-]	An optic nerve disease characterized by isolated o..[+] An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
osteoglophonic dysplasia	Fairbank-Keats syndrome; OGD; osteoglophonic dwarf.. [+] Fairbank-Keats syndrome; OGD; osteoglophonic dwarfism [-]	An osteochondrodysplasia characterized by rhizomel..[+] An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. [-]
progressive osseous heteroplasia	familial ectopic ossification; ectopic ossificatio.. [+] familial ectopic ossification; ectopic ossification familial type; POH; osteoma cutis [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]
paroxysmal extreme pain disorder	familial rectal pain; PEPD; PEXPD; submandibular, .. [+] familial rectal pain; PEPD; PEXPD; submandibular, ocular and rectal pain with flushing [-]	An autonomic nervous system disease characterized ..[+] An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. [-]	1 articles
scalp-ear-nipple syndrome	Finlay-Marks syndrome; hereditary syndrome of lump.. [+] Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; SENS [-]	An ectodermal dysplasia characterized by cutis apl..[+] An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. [-]
Sturge-Weber syndrome	fourth phacomatosis; encephalofacial angiomatosis; .. [+] fourth phacomatosis; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; leptomeningeal angiomatosis; Sturge-Weber-Krabbe angiomatosis [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
distal arthrogryposis type 2B	Freeman-Sheldon syndrome variant; DA2B; Sheldon-Ha.. [+] Freeman-Sheldon syndrome variant; DA2B; Sheldon-Hall syndrome [-]	A distal arthrogryposis characterized by contractu..[+] A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. [-]
distal arthrogryposis type 6	familial hand abnormality and sensori-neural deafn.. [+] familial hand abnormality and sensori-neural deafness; DA6; arthrogryposis-like hand anomaly-sensorineural deafness syndrome; arthrogryposis and sensorineural deafness [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. [-]
ectodermal dysplasia 8	Fried's tooth and nail syndrome; ECTD8; ectodermal.. [+] Fried's tooth and nail syndrome; ECTD8; ectodermal dysplasia 8, hair/tooth/nail type [-]	An ectodermal dysplasia characterized by hypotrich..[+] An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. [-]
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	Fowler syndrome; Fowler vasculopathy; cerebral pro.. [+] Fowler vasculopathy; Fowler syndrome; cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; EPV; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly; PVHH; hydranencephaly, Fowler type [-]	A syndrome characterized by hydranencephaly, glome..[+] A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. [-]
high molecular weight kininogen deficiency	Fitzgerald trait; congenital high-molecular-weight.. [+] Fitzgerald trait; congenital high-molecular-weight kininogen deficiency; HMWK deficiency [-]	A blood coagulation disease characterized by defic..[+] A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. [-]
glutamate formiminotransferase deficiency	formiminoglutamic aciduria; formiminotransferase d.. [+] formiminoglutamic aciduria; formiminotransferase deficiency syndrome; FTCD deficiency; formiminotransferase cyclodeaminase deficiency; formiminoglutamic acidemia; FIGLUria; Arakawa syndrome 1 [-]	A vitamin metabolic disorder characterized by elev..[+] A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. [-]
essential fructosuria	fructokinase deficiency; hepatic fructokinase defi.. [+] fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. [-]
Leber hereditary optic neuropathy and dystonia	familial dystonia with visual failure and striatal.. [+] familial dystonia with visual failure and striatal lucencies; Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; Marsden syndrome; LDYT [-]	A Leber plus disease characterized by Leber heredi..[+] A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. [-]
X-linked cardiac valvular dysplasia	FLNA-related X-linked myxomatous valvular dysplasi.. [+] FLNA-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; Filamin A-related X-linked myxomatous valvular dysplasia; CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; XMVD [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
otopalatodigital syndrome spectrum disorder	fronto-otopalatodigital osteodysplasia; OPD spectr.. [+] fronto-otopalatodigital osteodysplasia; OPD spectrum disorder; OPSD [-]	A bone development disease characterized by typica..[+] A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. [-]
otopalatodigital syndrome type 2	faciopalatoosseous syndrome; OPD II syndrome; OPD .. [+] faciopalatoosseous syndrome; OPD II syndrome; OPD syndrome 2; OPD2; otopalatodigital syndrome type II; Andre syndrome; oto-palato-digital syndrome type 2 [-]	An otopalatodigital syndrome spectrum disorder cha..[+] An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. [-]
syndactyly type 8	fusion of metacarpals 4 and 5; metacarpal 4-5 fusi.. [+] fusion of metacarpals 4 and 5; metacarpal 4-5 fusion [-]	A syndactyly characterized by isolated fusion of t..[+] A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. [-]
Aarskog syndrome	faciogenital dysplasia; faciodigitogenital syndrom.. [+] faciogenital dysplasia; faciodigitogenital syndrome; Aarskog-Scott syndrome [-]	A syndrome characterized by facial, limbs and geni..[+] A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. [-]
immunodeficiency 31C	familial candidiasis 7; autoimmune enteropathy and.. [+] familial candidiasis 7; autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; autosomal dominant chronic mucocutaneous familial candidiasis; autosomal dominant immunodeficiency 31C; CANDF7; IMD31C [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 54	familial isolated natural killer cell deficiency; .. [+] familial isolated natural killer cell deficiency; IMD54; NKCD; primary immunodeficiency due to MCM4 deficiency; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [-]	An NK cell deficiency characterized by severe intr..[+] An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. [-]
immunodeficiency 51	familial candidiasis 5; CANDF5; IMD51	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. [-]
immunodeficiency 34	familial atypical mycobacteriosis X-linked 2; AMCB.. [+] familial atypical mycobacteriosis X-linked 2; AMCBX2; IMD34; immunodeficiency 34, mycobacteriosis, X-linked; X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; X-linked MSMD due to CYBB deficiency [-]	A phagocyte bactericidal dysfunction characterized..[+] A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. [-]
Uruguay faciocardiomusculoskeletal syndrome	FCMSU	A syndrome characterized by distinctive facial app..[+] A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. [-]
homocystinuria-megaloblastic anemia cblE type	functional methionine synthase deficiency type cbl.. [+] functional methionine synthase deficiency type cblE; HMAE; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type; methylcobalamin deficiency, cblE type; vitamin B12-responsive homocystinuria, cblE type [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	Fantasy Island syndrome; SED-brachydactyly and dis.. [+] Fantasy Island syndrome; SED-brachydactyly and distinctive speech; spondyloepiphyseal dysplasia, Cantu type; Tattoo dysplasia; SED-BDS [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]

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