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Disease	Synonyms	Description	Articles	Phenotypes
Hengel-Maroofian-Schols syndrome		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. [-]
Hennekam syndrome	lymphedem-lymphangiectasia-intellectual disability.. [+] lymphedem-lymphangiectasia-intellectual disability syndrome; Hennekam lymphangiectasia-lymphedema 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; 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; [-]	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		A breast cancer that is characterized by the absen..[+] A breast cancer that is characterized by the absence of Her2 receptors. [-]
Her2-receptor positive breast cancer		n_a
Hermansky-Pudlak syndrome	HPS (Hermansky Pudlak syndrome);	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. [-]	4 articles	36 matches
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. [-]	1 articles
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. [-]	2 articles
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. [-]
Hirata disease	insulin autoimmune syndrome;	An autoimmune disease of endocrine system characte..[+] An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. [-]
Hirschsprung's disease	aganglionic megacolon; macrocolon; pelvirectal ach.. [+] aganglionic megacolon; macrocolon; pelvirectal achalasia; total intestinal aganglionosis; Hirschsprung disease; congenital megacolon; [-]	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. [-]	2 articles
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 II Subdiaphragmatic Hodgkin Lymphoma; stage I 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 (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; [-]	n_a
Hodgkin's lymphoma, lymphocytic-histiocytic predominance	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; [-]	n_a
Hodgkin's lymphoma, mixed cellularity	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; [-]	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 (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; [-]	n_a
Hodgkin's paragranuloma	Hodgkin paragranuloma;	n_a
Holoprosencephaly 13, X-linked		A holoprosencephaly characterized by midline devel..[+] A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. [-]
Holt-Oram syndrome	atrio-digital syndrome; heart-hand syndrome; atrio.. [+] atrio-digital syndrome; heart-hand syndrome; atriodigital dysplasia; [-]	A syndrome characterized by congenital anomalies l..[+] A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. [-]	6 articles
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; [-]	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. [-]
Human papillomavirus infectious disease	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; [-]	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. [-]
Huntington's disease	HD; Huntington's chorea; Huntington disease;	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. [-]	8 articles	24 matches
Huntington's 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; Huntington disease-like 1; [-]	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. [-]
Huntington's disease-like 2	HDL2; Huntington disease-like 2;	A neurodegenerative disease characterized by invol..[+] A neurodegenerative disease characterized by 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, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. [-]
IDH-mutant anaplastic astrocytoma		An anaplastic astrocytoma carrying IDH mutations.
IDH-mutant and 1p/19q-codeleted oligodendroglioma	anaplastic oligodendroglioma, IDH-mutant and 1p/19.. [+] anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; [-]	An anaplastic oligodendroglioma that has_material_..[+] An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). [-]
IDH-wildtype anaplastic astrocytoma		An anaplastic astrocytoma lacking mutations in IDH..[+] An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. [-]
IDH-wildtype glioblastoma		A glioblastoma that is characterized by high cellu..[+] A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. [-]
IGSF1 deficiency syndrome	CHTE; X-linked central congenital hypothyroidism w.. [+] CHTE; X-linked central congenital hypothyroidism with late-onset macroorchidism; X-linked central congenital hypothyroidism with late-onset testicular enlargement; central hypothyroidism and testicular enlargement; [-]	A syndrome characterized by hypothyroidism that is..[+] A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. [-]
IMAGe syndrome	intrauterine growth restriction, metaphyseal dyspl.. [+] intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities; [-]	A syndrome that is characterized by intrauterine g..[+] A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. [-]
ITM2B-related cerebral amyloid angiopathy 1	Cerebral Amyloid Angiopathy, British Type; Familia.. [+] Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia; [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. [-]
ITM2B-related cerebral amyloid angiopathy 2	Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+] Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD; Heredopathia Ophthalmootoencephalica; HOOE; [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
IVIC syndrome	Oculootoradial syndrome; radial ray defects, heari.. [+] Oculootoradial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; oculo-oto-radial syndrome; OORS; Instituto Venezolano de Investigaciones Cientificas syndrome; [-]	A syndrome characterized by radial ray defect of v..[+] A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. [-]
IgA glomerulonephritis	Berger's IgA or IgG nephropathy; Focal Glomerulone.. [+] Berger's IgA or IgG nephropathy; Focal Glomerulonephritis; IGA glomerulonephritis; IgA nephropathy; segmental glomerulonephritis; primary IgA nephropathy; [-]	A glomerulonephritis characterized by build up of ..[+] A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. [-]
IgA pemphigus		A pemphigus that is characterized by painful and p..[+] A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. [-]
IgG4-related disease		An autoimmune disease that is characterized by tum..[+] An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. [-]
Indian plum allergy	Ziziphus mauritiana fruit allergy;	A fruit allergy triggered by Ziziphus mauritiana p..[+] A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. [-]
Indian prawn allergy	Fenneropenaeus indicus allergy;	A crustacean allergy triggered by Fenneropenaeus i..[+] A crustacean allergy triggered by Fenneropenaeus indicus. [-]
Indian tick typhus		A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. [-]
Israeli tick typhus	Israeli spotted fever;	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. [-]
Jaccoud's syndrome	Jaccoud syndrome;	An autoimmune disease that is characterized by sev..[+] An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. [-]
Jackson-Weiss syndrome	JWS; craniosynostosis-midfacial hypoplasia-foot ab.. [+] JWS; craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; [-]	A syndrome characterized by craniosynostosis, midf..[+] A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. [-]

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