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Disease	Synonyms	Description	Articles
hereditary spherocytosis type 2	HS2; hereditary spherocytosis 2; SPH2	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. [-]
hereditary spherocytosis type 3	HS3; hereditary spherocytosis 3; SPH3	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. [-]
hereditary spherocytosis type 4	HS4; hereditary spherocytosis 4; SPH4	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. [-]
hereditary spherocytosis type 5	HS5; hereditary spherocytosis 5; SPH5	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. [-]
hemochromatosis type 2A	HFE2A	A hemochromatosis type 2 that has_material_basis_i..[+] A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. [-]
hemochromatosis type 4	HFE4; hemochromatosis due to defect in ferroportin.. [+] HFE4; hemochromatosis due to defect in ferroportin; autosomal dominant hereditary hemochromatosis; ferroportin disease [-]	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 1	HFE1; symptomatic form of classic hemochromatosis; .. [+] HFE1; symptomatic form of classic hemochromatosis; symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of hemochromatosis type 1 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. [-]
hemochromatosis type 3	HFE3; hemochromatosis due to defect in transferrin.. [+] HFE3; hemochromatosis due to defect in transferrin receptor 2; TFR2-related hemochromatosis [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. [-]
hemochromatosis type 5	HFE5; FTH1-related iron overload; FTH1-associated .. [+] HFE5; FTH1-related iron overload; FTH1-associated iron overload [-]	A hemochromatosis that has_material_basis_in heter..[+] A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. [-]
hemochromatosis type 2B	HFE2B	A hemochromatosis type 2 that has_material_basis_i..[+] A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. [-]
hemochromatosis type 2	HFE2; JHH; juvenile hemochromatosis	hypogonadotropic hypogonadism, cardiomyopathy, art..[+] A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. [-]
hypermethioninemia due to adenosine kinase deficiency	hypermethioninemia encephalopathy due to ADK defic.. [+] hypermethioninemia encephalopathy due to ADK deficiency; hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK hypermethioninemia; autosomal recessive mental retardation 8; MRT8 [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. [-]
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	hypermethioninemia due to S-adenosylhomocysteine h.. [+] hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency; psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. [-]
hyperphosphatemic familial tumoral calcinosis	hyperphosphatemia tumoral calcinosis; hyperostosis.. [+] hyperphosphatemia tumoral calcinosis; hyperostosis with hyperphosphatemia; HFTC; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia hyperostosis; hypercalcemic tumoral calcinosis; HHS; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; lipocalcinogranulomatosis; morbus Teutschlaender; PHPTC; primary hyperphosphatemic 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. [-]
hypertension and brachydactyly syndrome	HTNB; Bilginturan brachydactyly; Bilginturan syndr.. [+] HTNB; Bilginturan brachydactyly; Bilginturan syndrome; brachydactyly with hypertension; type E brachydactyly with short stature and hypertension [-]	A syndrome characterized by brachydactyly type E, ..[+] A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. [-]
hyperferritinemia-cataract syndrome	hyperferritinemia with or without cataract; HRFTC; .. [+] HRFTC; hyperferritinemia with or without cataract; HHCS; hereditary hyperferritinemia-cataract syndrome; hereditary hyperferritinemia with congenital cataracts; Bonneau-Beaumont syndrome; cataract-hyperferritinemia syndrome [-]	A syndrome characterized by elevated circulating l..[+] A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. [-]
hyaline body myopathy	myosin storage myopathy	A congenital myopathy characterized by accumulatio..[+] A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. [-]
histiocytosis-lymphadenopathy plus syndrome	HJCD; histiocytosis with joint contractures and se.. [+] HJCD; histiocytosis with joint contractures and sensorineural deafness; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; H syndrome; Faisalabad histiocytosis; familial Rosai-Dorfman disease; 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. [-]
hereditary desmoid disease	familial infiltrative fibromatosis; FIF	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
hydrolethalus syndrome 1	HLS1	A hydrolethalus syndrome that has_material_basis_i..[+] A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. [-]
hydrolethalus syndrome 2	HLS2	A hydrolethalus syndrome that has_material_basis_i..[+] A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	hypotrichosis-lymphedema-telangiectasia-membranopr.. [+] hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; HLTRS; HLT-renal defect syndrome; glomerulonephritis with sparse hair and telangiectases; telangiectatic membranoproliferative glomerulonephritis [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
hypotrichosis-lymphedema-telangiectasia syndrome	HLTS	A syndrome characterized by onset at birth or earl..[+] A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
hawkinsinuria	4-Alpha-hydroxyphenylpyruvate hydroxylase deficien.. [+] 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. [-]
Heinz body anemia		A congenital nonspherocytic hemolytic anemia chara..[+] A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. [-]
hyperalphalipoproteinemia 1	HALP1	A cholesterol-ester transfer protein deficiency ch..[+] A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. [-]
hypoplastic or aplastic tibia with polydactyly	hypoplastic tibiae-postaxial polydactyly syndrome; .. [+] hypoplastic tibiae-postaxial polydactyly syndrome; absence of tibia with polydactyly; absent tibia-polydactyly syndrome; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic syndrome [-]	A syndrome characterized by preaxial polydactyly o..[+] A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
hereditary arterial and articular multiple calcification syndrome	arterial calcification due to deficiency of CD73:A.. [+] arterial calcification due to deficiency of CD73:ACDC; calcification of joints and arteries; CALJA; arterial calcification due to CD73 deficiency; arterial calcification and distal joint calcification; arterial calcification due to deficiency of CD73 [-]	A syndrome characterized by adult onset of calcifi..[+] A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. [-]
high myopia-sensorineural deafness syndrome	deafness and myopia; deafness and myopia syndrome; .. [+] deafness and myopia; deafness and myopia syndrome; DFNMYP [-]	A syndrome characterized by severe myopia and mode..[+] A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. [-]
hyaline fibromatosis syndrome	HFS; inherited systemic hyalinosis; puretic syndro.. [+] HFS; inherited systemic hyalinosis; puretic syndrome; systemic hyalinosis [-]	A connective tissue disease characterized by abnor..[+] A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. [-]
high molecular weight kininogen deficiency	HMWK deficiency; congenital high-molecular-weight .. [+] HMWK deficiency; congenital high-molecular-weight kininogen deficiency; Fitzgerald trait [-]	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. [-]
hereditary folate malabsorption	congenital defect of folate absorption; congenital.. [+] congenital defect of folate absorption; congenital folate malabsorption [-]	A vitamin metabolic disorder characterized by impa..[+] A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. [-]
hereditary mixed polyposis syndrome	HMPS	An intestinal disease characterized by a mixture o..[+] An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. [-]
hereditary mixed polyposis syndrome 1	HMPS1; chromosome 15q13-q14 duplication syndrome, .. [+] HMPS1; chromosome 15q13-q14 duplication syndrome, 40-KB; colorectal adenoma and carcinoma 1; CRAC1 [-]	A hereditary mixed polyposis syndrome that has_mat..[+] A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. [-]
hereditary mixed polyposis syndrome 2	HMPS2	A hereditary mixed polyposis syndrome that has_mat..[+] A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. [-]
heparin cofactor II deficiency	HCF 2 deficiency; HCF II deficiency; THPH10; throm.. [+] HCF II deficiency; HCF 2 deficiency; THPH10; thrombophilia due to heparin cofactor II deficiency [-]	A thrombophilia characterized by increased risk of..[+] A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. [-]
HRPT-related hyperuricemia	hypoxanthine guanine phosphoribosyltransferase par.. [+] hypoxanthine guanine phosphoribosyltransferase partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; HPRT1 partial deficiency; HPRT-related hyperuricemia; HPRT-related gout; HPRT partial deficiency; HPRT deficiency, grade I; Kelley-Seegmiller syndrome [-]	A hyperuricemia characterized by excessive purine ..[+] A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. [-]
hypomyelinating leukodystrophy 20	HLD20	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. [-]
hereditary combined deficiency of vitamin K-dependent clotting factors	hereditary combined deficiency of factors II, VII,.. [+] hereditary combined deficiency of factors II, VII, IX and X; VKCFD [-]	A blood coagulation disease characterized by reduc..[+] A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. [-]
hepatic venoocclusive disease with immunodeficiency	hepatic veno-occlusive disease-immunodeficiency sy.. [+] hepatic veno-occlusive disease-immunodeficiency syndrome; VODI [-]	A syndrome characterized by severe hypogammaglobul..[+] A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. [-]
homocystinuria-megaloblastic anemia cblE type	homocystinuria-megaloblastic anemia due to defect .. [+] homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type; HMAE; functional methionine synthase deficiency type cblE; 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. [-]
homocystinuria-megaloblastic anemia cblG type	homocystinuria-megaloblastic anemia, cblG compleme.. [+] homocystinuria-megaloblastic anemia, cblG complementation type; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; HMAG; methylcobalamin deficiency, cblG type [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, 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 MTR on chromosome 1q43. [-]
hydroxykynureninuria	kynureninase deficiency; xanthurenic aciduria	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. [-]
hypoinsulinemic hypoglycemia with hemihypertrophy	hypoinsulinemic hypoglycemia and body hemihypertro.. [+] hypoinsulinemic hypoglycemia and body hemihypertrophy; HIHGHH [-]	An inherited metabolic disorder characterized by n..[+] An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. [-]
hereditary spastic paraplegia 80	spastic paraplegia 80 autosomal dominant; SPG80	A hereditary spastic paraplegia characterized by j..[+] A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. [-]
hereditary spastic paraplegia 86	spastic paraplegia 86 autosomal recessive; SPG86	A hereditary spastic paraplegia characterized by e..[+] A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. [-]
hereditary spastic paraplegia 82	spastic paraplegia 82 autosomal recessive; SPG82	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. [-]
hereditary spastic paraplegia 79B	early-onset progressive neurodegeneration-blindnes.. [+] early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive; SPG79; autosomal recessive spastic paraplegia 79B; SPG79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 85	spastic paraplegia 85 autosomal recessive; SPG85	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. [-]
hereditary spastic paraplegia 83	spastic paraplegia 83 autosomal recessive; SPG83	A hereditary spastic paraplegia characterized by p..[+] A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. [-]

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