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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
hereditary spastic paraplegia 84	spastic paraplegia 84 autosomal recessive; SPG84	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. [-]
hereditary spastic paraplegia 78	spastic paraplegia 78 autosomal recessive; SPG78	A hereditary spastic paraplegia characterized pred..[+] A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. [-]
hereditary spastic paraplegia 81	autosomal recessive complex spastic paraplegia due.. [+] autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; autosomal recessive complex SPG due to Kennedy pathway dysfunction; spastic paraplegia 81 autosomal recessive; SPG81 [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. [-]
vascular cancer	Haemangiomatous tumour; Blood Vessel neoplasm; blo.. [+] Haemangiomatous tumour; Blood Vessel neoplasm; blood vessel neoplasm; Blood vessel tumor (morphologic abnormality); Blood vessel tumour disorder; malignant tumor of pulmonary artery; malignant tumor of pulmonary Vein; malignant vascular neoplasm; malignant vascular tumor; renal vein leiomyosarcoma; vascular tissue neoplasm; vascular tumors; Blood vessel tumors (morphologic abnormality); pulmonary artery malignant neoplasm; leiomyosarcoma of the renal Vein; pulmonary vein malignant neoplasm; Blood vessel tumors; Blood vessel tumor; malignant great vessel tumor; neoplasm of great vessel [-]	A cardiovascular cancer that is located_in blood v..[+] A cardiovascular cancer that is located_in blood vessels. [-]
kidney hemangiopericytoma	hemangiopericytoma of kidney; hemangiopericytoma o.. [+] hemangiopericytoma of kidney; hemangiopericytoma of kidney (disorder); renal hemangiopericytoma [-]	A kidney cancer which is manifested in the kidney.
liver angiosarcoma	hemangiosarcoma of the Liver; angiosarcoma of live.. [+] hemangiosarcoma of the Liver; angiosarcoma of liver (disorder); angiosarcoma of liver [-]	An angiosarcoma and sarcoma of liver and hemangiom..[+] An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. [-]
liver sarcoma	hepatic sarcoma	A sarcoma and malignant non-epithelial hepatic and..[+] A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. [-]
gastric hemangioma	hemangioma of stomach	n_a
tropical spastic paraparesis	HTLV-associated myelopathy; Tropical spastic paral.. [+] HTLV-associated myelopathy; Tropical spastic paralysis; Tropical spastic paraplegia [-]	A viral infectious disease that results in inflamm..[+] A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. [-]
liver disease	hepatic disorder; disorder of liver (disorder); di.. [+] hepatic disorder; disorder of liver (disorder); disorder of liver [-]	n_a	9 articles	3 matches
autoimmune disease	hypersensitivity reaction type II disease; autoimm.. [+] hypersensitivity reaction type II disease; autoimmune disease; autoimmune hypersensitivity disease [-]	An immune system disease that is an overactive imm..[+] An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. [-]	26 articles	12 matches
primary hyperaldosteronism	hyperaldosteronism; Cushing syndrome; Cushing's sy.. [+] hyperaldosteronism; Cushing syndrome; Cushing's syndrome [-]	An adrenal gland hyperfunction disease that result..[+] An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. [-]	2 articles
subglottic angioma	hemangioma of the Subglottis	n_a
breast hemangioma	hemangioma of breast; Angioma of the breast	A breast benign neoplasm that is characterized by ..[+] A breast benign neoplasm that is characterized by a collection of excess blood vessels. [-]
central nervous system hemangioma	hemangioma of CNS	n_a
bilateral hypoactive labyrinth	Hypoactive bilateral labyrinthine dysfunction; Hyp.. [+] Hypoactive bilateral labyrinthine dysfunction; Hypoactive labyrinth, bilateral; Hypoactive bilateral labyrinthine dysfunction (disorder); Bilateral hypoactive labyrinth (disorder); Bilateral hypoactive labyrinth [-]	n_a
congenital hemolytic anemia	hereditary hemolytic anemia; hereditary hemolytic .. [+] hereditary hemolytic anemia; hereditary hemolytic anaemia; congenital hemolytic anaemia [-]	n_a
primary immunodeficiency disease	hypoimmunity; immune deficiency disorder; immunode.. [+] hypoimmunity; immune deficiency disorder; immunodeficiency syndrome [-]	An immune system disease that results when one or ..[+] An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. [-]	26 articles	12 matches
scrotal angioma	hemangioma of scrotum	n_a
splenic manifestation of hairy cell leukemia	hairy cell leukaemia of spleen; hairy cell leukemi.. [+] hairy cell leukaemia of spleen; hairy cell leukemia of spleen; splenic manifestation of hairy cell leukaemia [-]	n_a
ocular hypotension	Hypotony of eye	n_a

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