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Disease	Synonyms	Description
Gorham's disease	Disappearing bone disease (disorder); essential os.. [+] Disappearing bone disease (disorder); essential osteolysis; Gorham disease; Gorham-Stout Syndrome; massive osteolysis; phantom bone disease; [-]	A syndrome that is characterized by bone loss (ost..[+] A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. [-]
Graves ophthalmopathy	Graves orbitopathy; Thyroid associated ophthalmopa.. [+] Graves orbitopathy; Thyroid associated ophthalmopathy; thyroid eye disease; [-]	An autoimmune disease of eyes, ear, nose and throa..[+] An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. [-]
Graves' disease	Basedow's disease; exophthalmic goiter; Grave's di.. [+] Basedow's disease; exophthalmic goiter; Grave's disease; Graves disease; [-]	An autoimmune disease of endocrine system that inv..[+] An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. [-]
Greig cephalopolysyndactyly syndrome	polysyndactyly with peculiars skull shape;	An acrocephalosyndactylia that has_material_basis_..[+] An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. [-]
Griscelli syndrome	ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©r.. [+] ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©ras syndrome; partial albinism-immunodeficiency syndrome; [-]	An autosomal recessive disease characterized by si..[+] An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. [-]
Griscelli syndrome type 1	Griscelli syndrome with neurological impairment; G.. [+] Griscelli syndrome with neurological impairment; Griscelli syndrome, cutaneous and neurological type; Griscelli-PruniÃ©ras syndrome type 1; GS1; hypopigmentation-neurologic impairment syndrome; Griscelli-Prunieras syndrome type 1; [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. [-]
Griscelli syndrome type 2	Griscelli syndrome with hemophagocytic syndrome; G.. [+] Griscelli syndrome with hemophagocytic syndrome; Griscelli-PruniÃ©ras syndrome type 2; GS2; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; PAID syndrome; partial albinism and immunodeficiency syndrome; [-]	A Griscelli syndrome characterized by silvery gray..[+] A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. [-]
Griscelli syndrome type 3	Griscelli-PruniÃ©ras syndrome type 3; GS3;	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. [-]
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions		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. [-]
Guillain-Barre syndrome	acute infective polyneuritis; acute postinfectious.. [+] acute infective polyneuritis; acute postinfectious polyneuropathy; Infectious neuronitis; Post-infectious polyneuritis; Postinfectious polyneuritis; acute inflammatory demyelinating polyradiculopathy; [-]	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. [-]
Guttmacher syndrome	autosomal dominant preaxial deficiency, postaxial .. [+] autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias; preaxial deficiency-postaxial polydactyly-hypospadias syndrome; [-]	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. [-]
HCL-V	Hairy cell leukaemia variant; Hairy cell leukemia .. [+] Hairy cell leukaemia variant; Hairy cell leukemia variant (disorder); [-]	n_a
HELLP syndrome		A severe pre-eclampsia characterized by hemolysis,..[+] A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. [-]
Hailey-Hailey disease	BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Famili.. [+] BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Familial; [-]	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. [-]
Hajdu-Cheney syndrome		n_a
Hallermann-Streiff syndrome	Francois dyscephalic syndrome; Hallerman - Streiff.. [+] Francois dyscephalic syndrome; Hallerman - Streiff syndrome; Hallermann's syndrome; [-]	A syndrome that affects growth, cranial developmen..[+] A syndrome that affects growth, cranial development, hair growth and dental development. [-]
Hantavirus hemorrhagic fever with renal syndrome	Hemorrhagic fever, Russian; Hemorrhagic nephrosone.. [+] Hemorrhagic fever, Russian; Hemorrhagic nephrosonephritis; HFRS; Puumala virus nephropathy (disorder); Puumala virus nephropathy; [-]	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. [-]
Hartnup disease	deficiency of tryptophan oxygenase; Neutral 1 amin.. [+] deficiency of tryptophan oxygenase; Neutral 1 amino acid transport defect (disorder); neutral amino acid transport defect; [-]	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. [-]
Haverhill fever	Streptobacillary fever; Streptobacillary rat-bite .. [+] Streptobacillary fever; Streptobacillary rat-bite fever; Streptobacillosis; [-]	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. [-]
Heimler syndrome 1	Deafness-enamel hypoplasia-nail defects syndrome; .. [+] Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C; [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterised 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. [-]
Helsmoortel-Van Der Aa Syndrome	autosomal dominant mental retardation 28; HVDAS; M.. [+] autosomal dominant mental retardation 28; HVDAS; MRD28; [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13. [-]
Hennekam syndrome	Hennekam lymphangiectasia-lymphedema syndrome; lym.. [+] Hennekam lymphangiectasia-lymphedema syndrome; lymphedem-lymphangiectasia-intellectual disability syndrome; [-]	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. [-]
Henoch-Schoenlein purpura	Allergic purpura; Autoimmune purpura; Henoch-Sch?n.. [+] Allergic purpura; Autoimmune purpura; Henoch-Sch?nlein purpura; Henoch-Sch@nlein purpura; Henoch-Scholein purpura; Henoch-Schonlein Purpura; Purpura, autoimmune; [-]	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. [-]
Her2-receptor negative breast cancer		n_a
Her2-receptor positive breast cancer		n_a
Hermansky-Pudlak syndrome	HPS (Hermansky Pudlak syndrome);	An autosomal recessive disease characterized by oc..[+] An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. [-]
Hermansky-Pudlak syndrome 1		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. [-]
Hermansky-Pudlak syndrome 2		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. [-]
Hermansky-Pudlak syndrome 3		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. [-]
Hermansky-Pudlak syndrome 4		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. [-]
Hermansky-Pudlak syndrome 5		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. [-]
Hermansky-Pudlak syndrome 6		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. [-]
Hermansky-Pudlak syndrome 7		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. [-]
Hermansky-Pudlak syndrome 8		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. [-]
Hermansky-Pudlak syndrome 9		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. [-]
Hirschsprung's disease	aganglionic megacolon; congenital megacolon; Hirsc.. [+] aganglionic megacolon; congenital megacolon; Hirschsprung disease; macrocolon; pelvirectal achalasia; total intestinal aganglionosis; [-]	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. [-]
Hodgkin's granuloma	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; [-]	n_a
Hodgkin's lymphoma	HL; Hodgkin disease; Hodgkin lymphoma; Hodgkin's s.. [+] HL; Hodgkin disease; Hodgkin lymphoma; Hodgkin's sarcoma; Hodgkins lymphoma; stage I Subdiaphragmatic Hodgkin Lymphoma; stage II Subdiaphragmatic Hodgkin Lymphoma; [-]	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. [-]
Hodgkin's lymphoma, lymphocytic depletion	Hodgkin lymphoma, lymphocyte depletion; Hodgkin's .. [+] Hodgkin lymphoma, lymphocyte depletion; Hodgkin's disease, lymphocytic depletion; Hodgkin's disease, lymphocytic depletion (disorder); Hodgkin's disease, lymphocytic depletion NOS; 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; Hodgkin's lymphocytic depletion of unspecified site (disorder); Lymphocyte-Depleted Classical Hodgkin Lymphoma; [-]	n_a
Hodgkin's lymphoma, lymphocytic-histiocytic predominance	Hodgkin lymphoma, lymphocyte-rich (disorder); Hodg.. [+] Hodgkin lymphoma, lymphocyte-rich (disorder); Hodgkin lymphoma, lymphocytic-histiocytic predominance; Hodgkin's disease, lymphocyte predominance [obs]; Lymphocyte Rich Hodgkin's disease; [-]	n_a
Hodgkin's lymphoma, mixed cellularity	Hodgkin lymphoma, mixed cellularity; Hodgkin's dis.. [+] Hodgkin lymphoma, mixed cellularity; Hodgkin's disease, 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; [-]	n_a
Hodgkin's lymphoma, nodular sclerosis	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; 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); NSHL; [-]	n_a
Hodgkin's paragranuloma	Hodgkin paragranuloma;	n_a
Holt-Oram syndrome	atrio-digital syndrome; atriodigital dysplasia; he.. [+] atrio-digital syndrome; atriodigital dysplasia; heart-hand syndrome; [-]	A syndrome characterized by congenital anomalies l..[+] A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. [-]
Holzgreve-Wagner-Rehder Syndrome	Holzgreve syndrome; Holzgreve Wagner Rehder Syndro.. [+] Holzgreve syndrome; Holzgreve Wagner Rehder Syndrome; [-]	A syndrome characterized by Potter sequence, heart..[+] A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. [-]
Horner's syndrome	Bernard Horner syndrome; cervical sympathetic para.. [+] Bernard Horner syndrome; cervical sympathetic paralysis; Horner syndrome; [-]	n_a
Huntington disease-like 1	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; [-]	A prion disease characterized by a phenocopy of Hu..[+] A prion disease characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has material_basis_in the presence of 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. [-]
Huntington disease-like 2	HDL2;	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal dominant inheritance of a involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset that has material_basis_in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene on chromosome 16q24. [-]
Huntington's disease	HD; Huntington disease; Huntington's chorea;	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. [-]
IDH-mutant anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.

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