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Disease	Synonyms	Description	Articles
trimethylaminuria	fish-odor syndrome	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. [-]
nephrotic syndrome type 1	Finnish congenital nephrosis	A familial nephrotic syndrome characterized by pre..[+] A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. [-]
myxofibrosarcoma	fibromyxoid sarcoma	A sarcoma that arises from the soft tissue and is ..[+] A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. [-]
primary ovarian insufficiency 1	FMR1-related primary ovarian insufficiency; Fragil.. [+] FMR1-related primary ovarian insufficiency; Fragile X-associated primary ovarian insufficiency; premature ovarian failure 1 [-]	A primary ovarian insufficiency that has_material_..[+] A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). [-]
primary localized cutaneous amyloidosis 1	familial primary localized cutaneous amyloidosis-1.. [+] familial primary localized cutaneous amyloidosis-1 [-]	A primary cutaneous amyloidosis that has_material_..[+] A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. [-]
primary hypoalphalipoproteinemia 1	familial hypoalphalipoproteinemia; familial HDL de.. [+] familial hypoalphalipoproteinemia; familial HDL deficiency [-]	A hypolipoproteinemia that is characterized by low..[+] A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. [-]
X-linked intellectual developmental disorder 109	Fragile XE syndrome; fragile site on chromosome Xq.. [+] Fragile XE syndrome; fragile site on chromosome Xq28 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. [-]
DeSanto-Shinawi syndrome	Facial dysmorphism-developmental delay-behavioral .. [+] Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation; Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion; Chromosome 10p12-p11 deletion syndrome; WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome [-]	A syndrome that is characterized by global develop..[+] A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. [-]
pulmonary venoocclusive disease 2	FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS	A pulmonary venoocclusive disease that has_materia..[+] A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. [-]
Paget's disease of bone 5	Familial osteoectasia; Hereditary hyperphosphatasi.. [+] Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget disease of bone-5 [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
autosomal dominant familial periodic fever	familial Hibernian fever; FHF; FPF; familial hiber.. [+] FPF; FHF; familial Hibernian fever; familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; TNF receptor 1-associated periodic syndrome; hibernian fever; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
hypogonadotropic hypogonadism 12 with or without anosmia	familial hypogonadotrophic eunuchoidism; familial .. [+] familial hypogonadotrophic eunuchoidism; familial idiopathic gonadotrpin deficiency [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	fertile eunuch syndrome; 46,XY disorder of sex dev.. [+] fertile eunuch syndrome; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; Pasqualini syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
lethal congenital glycogen storage disease of heart	fatal congenital nonlysosomal cardiac glycogenosis.. [+] fatal congenital nonlysosomal cardiac glycogenosis; fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital nonlysosomal cardiac glycogenosis; phosphorylase kinase deficiency of heart [-]	A glycogen storage disease characterized by glycog..[+] A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. [-]
autosomal recessive hypercholesterolemia	FHCB1; familial autosomal recessive hypercholester.. [+] FHCB1; familial autosomal recessive hypercholesterolemia; FHCB2; familial autosomal recessive hypercholesterolemia; ARH; ARH2; autosomal recessive hypercholesterolemia 1; ARH1; autosomal recessive hypercholesterolemia 2 [-]	A familial hypercholesterolemia that is characteri..[+] A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. [-]
aromatase excess syndrome	familial hyperestrogenism; AEXS; increased aromata.. [+] familial hyperestrogenism; AEXS; increased aromatase activity; hereditary prepubertal gynecomastia [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	familial fibrosing serositis; CACP; CACP syndrome; .. [+] familial fibrosing serositis; CACP; CACP syndrome; congenital familial hypertrophic synovitis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
Donnai-Barrow syndrome	FOAR syndrome; faciooculoacousticorenal syndrome; .. [+] faciooculoacousticorenal syndrome; FOAR syndrome; facio-oculo-acoustico-renal syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; DBS/FOAR syndrome [-]	A syndrome that is characterized by facial and ocu..[+] A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. [-]
advanced sleep phase syndrome 1	FASPS1; familial advanced sleep phase syndrome 1	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER2 gene on chromosome 2q37. [-]
advanced sleep phase syndrome 2	FASPS2; familial advanced sleep phase syndrome 2	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the CSNK1D gene on chromosome 17q25. [-]
advanced sleep phase syndrome 3	FASPS3; familial advanced sleep phase syndrome 3	An advanced sleep phase syndrome that has material..[+] An advanced sleep phase syndrome that has material basis in heterozygous mutation in the PER3 gene on chromosome 1p36.23. [-]
arrhythmogenic right ventricular dysplasia 1	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 1; arrhythmogenic right ventricular cardiomyopathy 1; ARVC1; ARVD1 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24. [-]
arrhythmogenic right ventricular dysplasia 3	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 3; arrhythmogenic right ventricular cardiomyopathy 3; ARVC3; ARVD3 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. [-]
arrhythmogenic right ventricular dysplasia 4	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 4; fanilial arrhythmogenic right ventricular dysplasia 4; arrhythmogenic right ventricular cardiomyopathy 4; ARVC4; ARVD4 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. [-]
arrhythmogenic right ventricular dysplasia 5	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 5; ARVC5; arrhythmogenic right ventricular cardiomyopathy 5; ARVD5 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. [-]
arrhythmogenic right ventricular dysplasia 6	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 6; arrhythmogenic right ventricular cardiomyopathy 6; ARVD6; ARVC6 [-]	An arrhythmogenic right ventricular dysplasia asso..[+] An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. [-]
arrhythmogenic right ventricular dysplasia 8	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 8; arrhythmogenic right ventricular cardiomyopathy 8; ARVD8; ARVC8 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. [-]
arrhythmogenic right ventricular dysplasia 9	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 9; ARVC9; arrhythmogenic right ventricular cardiomyopathy 9; ARVD9 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutations in the PKP2 gene on chromosome 12p11. [-]
arrhythmogenic right ventricular dysplasia 10	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 10; arrhythmogenic right ventricular cardiomyopathy 10; ARVD10; ARVC10 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. [-]
arrhythmogenic right ventricular dysplasia 11	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 11; arrhythmogenic right ventricular cardiomyopathy 11; ARVD11; ARVC11 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. [-]
arrhythmogenic right ventricular dysplasia 12	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 12; ARVD12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. [-]
arrhythmogenic right ventricular dysplasia 13	familial arrhythmogenic right ventricular dysplasi.. [+] familial arrhythmogenic right ventricular dysplasia 13; ARVC13; ARVD13; arrhythmogenic right ventricular cardiomyopathy 13 [-]	An arrhythmogenic right ventricular dysplasia that..[+] An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. [-]
dilated cardiomyopathy 1A	familial dilated cardiomyopathy with conduction de.. [+] familial dilated cardiomyopathy with conduction defect due to LMNA mutation; CDCD1; CMD1A; dilated cardiomyopathy with conduction defect 1 [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
muscular dystrophy-dystroglycanopathy type B5	FKRP-related congenital muscular dystrophy; MDDGB5.. [+] FKRP-related congenital muscular dystrophy; MDDGB5; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; congenital muscular dystrophy 1C; MDC1C; muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 [-]	A congenital muscular dystrophy characterized by a..[+] A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. [-]
congenital myasthenic syndrome 10	familial limb-girdle myasthenia; CMS Ib; CMS10; CM.. [+] familial limb-girdle myasthenia; CMS Ib; CMS10; CMS1B; congenital myasthenic syndrome type Ib; LGM; congenital muscular dystrophy merosin-positive [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. [-]
congenital myasthenic syndrome 6	FIMG2; familial infantile myasthenia gravis 2; FIM.. [+] familial infantile myasthenia gravis 2; FIMG2; FIM; familial infantile myasthenia; CMS Ia2; CMS6; CMSEA; congenital myasthenic syndrome type Ia2; congenital presynaptic myasthenic syndrome associated with episodic apnea; CMS1A2; congenital myasthenic syndrome 6, presynaptic [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. [-]
congenital myasthenic syndrome 4C	familial infantile myasthenia 1; FIM1; CMS Id; CMS.. [+] FIM1; familial infantile myasthenia 1; CMS Id; CMS4C; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; CMS1D; congenital myasthenic syndrome type Id [-]	A congenital myasthenic syndrome characterized by ..[+] A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. [-]
neurodegeneration with brain iron accumulation 3	Ferritin-related neurodegeneration; Adult basal ga.. [+] Ferritin-related neurodegeneration; Adult basal ganglia disease; Hereditary ferritinopathy; Neuroferritinopathy; NBIA3; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
hereditary spastic paraplegia 35	fatty acid hydroxylase-associated neurodegeneratio.. [+] fatty acid hydroxylase-associated neurodegeneration; FAHN; autosomal recessive spastic paraplegia 35; autosomal recessive spastic paraplegia type 35; leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia; SPG35 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. [-]
hereditary spastic paraplegia 3A	FSP1; autosomal dominant familial spastic parapleg.. [+] FSP1; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; SPG3A; strumpell disease [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. [-]
hereditary spastic paraplegia 6	FSP3; autosomal dominant familial spastic parapleg.. [+] FSP3; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; SPG6; autosomal dominant spastic paraplegia type 6 [-]	A hereditary spastic paraplegia that is usually ch..[+] A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. [-]	1 articles
Gaucher's disease perinatal lethal	Fetal Gaucher Disease; Gaucher Disease, Collodion .. [+] Fetal Gaucher Disease; Gaucher Disease, Collodion Type [-]	A Gaucher's Disease characterized by perinatal let..[+] A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. [-]
brachydactyly type A1	Farabee type brachydactyly; BDA1	A brachydactyly characterized by rudimentary or fu..[+] A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. [-]
hemochromatosis type 4	ferroportin disease; autosomal dominant hereditary.. [+] ferroportin disease; autosomal dominant hereditary hemochromatosis; hemochromatosis due to defect in ferroportin; HFE4 [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. [-]
hemochromatosis type 5	FTH1-associated iron overload; FTH1-related iron o.. [+] FTH1-associated iron overload; FTH1-related iron overload; HFE5 [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. [-]
Quebec platelet disorder	factor V Quebec; BDPLT5; platelet-type bleeding di.. [+] factor V Quebec; BDPLT5; platelet-type bleeding disorder 5 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. [-]
Scott syndrome	familial prothrombin conversion defect; familial p.. [+] familial prothrombin conversion defect; familial prothrombin consumption inhibitor; platelet-type bleeding disorder 7; prothrombin consumption deficiency; SCTS; bleeding abnormality due to deficiency of platelet biding of factor X; BDPLT7 [-]	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. [-]
hyperphosphatemic familial tumoral calcinosis	familial Teutschlaender disease; familial hyperpho.. [+] familial Teutschlaender disease; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; cortical hyperostosis with hyperphosphatemia; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
progressive familial heart block	familial PCCD; familial progressive heart block; f.. [+] familial progressive heart block; familial PCCD; familial Lev-Lenegre disease; familial Lev disease; familial Lenegre disease; hereditary bundle branch defect; PFHB [-]	A heart conduction disease characterized by autoso..[+] A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. [-]
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. [-]

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