| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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Griscelli syndrome type 3
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Griscelli-Pruniéras syndrome type 3; GS3; Griscel..
[+]Griscelli-Pruniéras syndrome type 3; GS3; Griscelli-Prunieras syndrome type 3;
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A Griscelli syndrome characterized by isolated sil.. [+]A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes.
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Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
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A frontotemporal dementia characterized by variabl.. [+]A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
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Guillain-Barre syndrome
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acute infective polyneuritis; Infectious neuroniti..
[+]acute infective polyneuritis; Infectious neuronitis; Postinfectious polyneuritis; acute inflammatory demyelinating polyradiculopathy; Post-infectious polyneuritis; acute postinfectious polyneuropathy;
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An autoimmune disease of peripheral nervous system.. [+]An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
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Guttmacher syndrome
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autosomal dominant preaxial deficiency, postaxial ..
[+]autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome;
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A syndrome characterized by preaxial deficiencies .. [+]A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
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HCL-V
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Hairy cell leukemia variant (disorder); Hairy cell..
[+]Hairy cell leukemia variant (disorder); Hairy cell leukaemia variant; Hairy cell leukemia variant;
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n_a
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HELLP syndrome
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A severe pre-eclampsia characterized by hemolysis,.. [+]A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
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HMG-CoA synthase 2 deficiency
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3-hydroxy-3-methylglutaryl-CoA synthase-2 deficien..
[+]3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency;
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An amino acid metabolic disorder that is character.. [+]An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12.
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HRPT-related hyperuricemia
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HPRT deficiency, grade I; HPRT partial deficiency;..
[+]HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome; hypoxanthine guanine phosphoribosyltransferase partial deficiency;
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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.
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Hailey-Hailey disease
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Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIG..
[+]Pemphigus, Benign Familial; BENIGN CHRONIC PEMPHIGUS;
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A pemphigus that is characterized by recurring bli.. [+]A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
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Hajdu-Cheney syndrome
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arthrodentoosteodysplasia; HJCYS; serpentine fibul..
[+]arthrodentoosteodysplasia; HJCYS; serpentine fibula-polycystic kidney syndrome; SFPKS; Cheney syndrome; acroosteolysis with osteoporosis and changes in skull and mandible;
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A bone disease characterized by short stature, coa.. [+]A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12.
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Hallermann-Streiff syndrome
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Hallerman - Streiff syndrome; Hallermann's syndrom..
[+]Hallerman - Streiff syndrome; Hallermann's syndrome; Francois dyscephalic syndrome;
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A syndrome that affects growth, cranial developmen.. [+]A syndrome that affects growth, cranial development, hair growth and dental development.
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Halperin-Birk syndrome
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HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH S..
[+]HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES;
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A syndrome characterized by structural brain defec.. [+]A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
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Hantavirus hemorrhagic fever with renal syndrome
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Hemorrhagic fever, Russian; Hemorrhagic nephrosone..
[+]Hemorrhagic fever, Russian; Hemorrhagic nephrosonephritis; HFRS; Puumala virus nephropathy (disorder); Puumala virus nephropathy;
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A viral infectious disease that is a hemorrhagic f.. [+]A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.
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Harel-Yoon syndrome
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Ocular anomalies-axonal neuropathy-developmental d..
[+]Ocular anomalies-axonal neuropathy-developmental delay syndrome;
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A syndrome that is characterized by delayed psycho.. [+]A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36.
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Hartnup disease
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deficiency of tryptophan oxygenase; neutral amino ..
[+]deficiency of tryptophan oxygenase; neutral amino acid transport defect; Neutral 1 amino acid transport defect (disorder); Neutral 1 amino acid transport defect;
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An amino acid metabolic disorder that is caused by.. [+]An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
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Haverhill fever
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Streptobacillary fever; Streptobacillary rat-bite ..
[+]Streptobacillary fever; Streptobacillary rat-bite fever; Streptobacillosis;
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A primary bacterial infectious disease that result.. [+]A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.
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Heimler syndrome 1
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Deafness-enamel hypoplasia-nail defects syndrome; ..
[+]Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C;
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.
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Heimler syndrome 2
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peroxisomal biogenesis disorder 4C;
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A peroxisomal biogenesis disorder that is characte.. [+]A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21.
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Heinz body anemia
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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.
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Helsmoortel-Van Der Aa Syndrome
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autosomal dominant mental retardation 28; HVDAS; M..
[+]autosomal dominant mental retardation 28; HVDAS; MRD28;
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An autosomal dominant intellectual developmental d.. [+]An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13.
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Hengel-Maroofian-Schols syndrome
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A syndrome characterized by infant or early childh.. [+]A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23.
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Hennekam syndrome
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lymphedem-lymphangiectasia-intellectual disability..
[+]lymphedem-lymphangiectasia-intellectual disability syndrome; Hennekam lymphangiectasia-lymphedema syndrome;
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A lymphatic system disease characterized by he pre.. [+]A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients.
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Henoch-Schoenlein purpura
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Allergic purpura; Henoch-Sch?nlein purpura; Henoch..
[+]Allergic purpura; Henoch-Sch?nlein purpura; Henoch-Scholein purpura; Autoimmune purpura; Henoch-Schonlein Purpura; Henoch-Sch@nlein purpura; Purpura, autoimmune;
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A hypersensitivity vasculitis that is characterize.. [+]A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.
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Her2-receptor negative breast cancer
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A breast cancer that is characterized by the absen.. [+]A breast cancer that is characterized by the absence of Her2 receptors.
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Her2-receptor positive breast cancer
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n_a
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Hermansky-Pudlak syndrome
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HPS (Hermansky Pudlak syndrome);
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A syndrome characterized by oculocutaneous albinis.. [+]A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
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3 articles
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36 matches
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Hermansky-Pudlak syndrome 1
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.
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Hermansky-Pudlak syndrome 2
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.
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Hermansky-Pudlak syndrome 3
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A Hermasky-Pudlak syndrome that has_material_basis.. [+]A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.
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Hermansky-Pudlak syndrome 4
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1.
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1 articles
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Hermansky-Pudlak syndrome 5
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
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Hermansky-Pudlak syndrome 6
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.
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2 articles
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Hermansky-Pudlak syndrome 7
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3.
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Hermansky-Pudlak syndrome 8
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13.
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Hermansky-Pudlak syndrome 9
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A Hermansky-Pudlak syndrome that has_material_basi.. [+]A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.
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Hirata disease
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insulin autoimmune syndrome;
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An autoimmune disease of endocrine system characte.. [+]An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin.
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Hirschsprung's disease
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aganglionic megacolon; macrocolon; pelvirectal ach..
[+]aganglionic megacolon; macrocolon; pelvirectal achalasia; total intestinal aganglionosis; Hirschsprung disease; congenital megacolon;
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A megacolon that is characterized by a blockage of.. [+]A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
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2 articles
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Hodgkin's granuloma
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Hodgkin granuloma; Hodgkin's Granuloma; Hodgkin's ..
[+]Hodgkin granuloma; Hodgkin's Granuloma; Hodgkin's granuloma of unspecified site (disorder); Hodgkin's granuloma, unspecified site, extranodal and solid organ sites;
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n_a
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Hodgkin's lymphoma
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HL; Hodgkin disease; Hodgkin lymphoma; Hodgkin's s..
[+]HL; Hodgkin disease; Hodgkin lymphoma; Hodgkin's sarcoma; Hodgkins lymphoma; stage II Subdiaphragmatic Hodgkin Lymphoma; stage I Subdiaphragmatic Hodgkin Lymphoma;
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A lymphoma that is marked by the presence of a typ.. [+]A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
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Hodgkin's lymphoma, lymphocytic depletion
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Hodgkin lymphoma, lymphocyte depletion; Hodgkin's ..
[+]Hodgkin lymphoma, lymphocyte depletion; Hodgkin's disease, lymphocytic depletion (disorder); Hodgkin's disease, lymphocytic depletion NOS (disorder); Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality); Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites; Lymphocyte-Depleted Classical Hodgkin Lymphoma; Hodgkin's disease, lymphocytic depletion; Hodgkin's disease, lymphocytic depletion NOS; Hodgkin's lymphocytic depletion of unspecified site (disorder); Hodgkin's lymphocytic depletion of unspecified site;
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n_a
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Hodgkin's lymphoma, lymphocytic-histiocytic predominance
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Hodgkin lymphoma, lymphocyte-rich (disorder); Hodg..
[+]Hodgkin lymphoma, lymphocyte-rich (disorder); Hodgkin's disease, lymphocyte predominance [obs]; Hodgkin lymphoma, lymphocyte-rich; Hodgkin lymphoma, lymphocytic-histiocytic predominance; Hodgkin's disease, lymphocyte predominance; Lymphocyte Rich Hodgkin's disease;
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n_a
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Hodgkin's lymphoma, mixed cellularity
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Hodgkin lymphoma, mixed cellularity; Hodgkin's dis..
[+]Hodgkin lymphoma, mixed cellularity; Hodgkin's disease, mixed cellularity (disorder); Hodgkin's disease, mixed cellularity NOS (disorder); Hodgkin's disease, mixed cellularity of unspecified site (disorder); MCHL; Hodgkin's disease, mixed cellularity;
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n_a
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Hodgkin's lymphoma, nodular sclerosis
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Classical Hodgkin lymphoma, nodular sclerosis; Hod..
[+]Classical Hodgkin lymphoma, nodular sclerosis; Hodgkin lymphoma, nodular sclerosis; Hodgkin's disease nodular sclerosis NOS; Hodgkin's disease, nodular sclerosis (disorder); Hodgkin's disease, nodular sclerosis NOS (disorder); Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality); Hodgkin's disease, nodular sclerosis of unspecified site (disorder); Hodgkin's disease, nodular sclerosis; NSHL;
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n_a
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Hodgkin's paragranuloma
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Hodgkin paragranuloma;
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n_a
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Holt-Oram syndrome
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atrio-digital syndrome; heart-hand syndrome; atrio..
[+]atrio-digital syndrome; heart-hand syndrome; atriodigital dysplasia;
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A syndrome characterized by congenital anomalies l.. [+]A syndrome characterized by congenital anomalies located_in heart and located_in upper limb.
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6 articles
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Holzgreve-Wagner-Rehder Syndrome
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Holzgreve syndrome; Holzgreve Wagner Rehder Syndro..
[+]Holzgreve syndrome; Holzgreve Wagner Rehder Syndrome;
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A syndrome characterized by Potter sequence, heart.. [+]A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
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Horner's syndrome
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Bernard Horner syndrome; cervical sympathetic para..
[+]Bernard Horner syndrome; cervical sympathetic paralysis; Horner syndrome;
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An autonomic neuropathy that is characterized by t.. [+]An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics.
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Human papillomavirus infectious disease
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Human papilloma Virus Infection; Human papilloma v..
[+]Human papilloma Virus Infection; Human papilloma virus infection, NOS; human papilloma virus infectious disease; Tumor Virus Infections; Human papilloma virus infection (disorder); HPV;
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A viral infectious disease that has_material_basis.. [+]A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.
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Huntington's disease
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HD; Huntington's chorea; Huntington disease;
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A neurodegenerative disease that has_material_basi.. [+]A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
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8 articles
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24 matches
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Huntington's disease-like 1
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autosomal dominant Huntington-like neurodegenerati..
[+]autosomal dominant Huntington-like neurodegenerative disorder; early-onset prion disease with prominent psychiatric features; HDL1; HLN1; Huntington-like neurodegenerative disorder 1; Huntington disease-like 1;
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A prion disease that is characterized by a phenoco.. [+]A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13.
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