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Disease	Synonyms	Description	Articles
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 degradation 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. [-]
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. [-]
X-linked exudative vitreoretinopathy 2	FEVRX; EVR2; EVRX	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. [-]
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 2	familial restrictive cardiomyopathy 2; RCM2	A restrictive cardiomyopathy that has_material_bas..[+] A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. [-]
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. [-]

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