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Disease	Synonyms	Description	Articles
Ehlers-Danlos syndrome hypermobility type	Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-.. [+] Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-Danlos syndrome, type 3; type III Ehlers-Danlos syndrome; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. [-]
Ehlers-Danlos syndrome kyphoscoliotic type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. [-]
Ehlers-Danlos syndrome kyphoscoliotic type 2		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. [-]
Ehlers-Danlos syndrome musculocontractural type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. [-]
Ehlers-Danlos syndrome musculocontractural type 2		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. [-]
Ehlers-Danlos syndrome periodontal type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. [-]
Ehlers-Danlos syndrome periodontal type 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. [-]
Ehlers-Danlos syndrome spondylodysplastic type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	XGPT deficiency; xylosylprotein 4-beta-galactosylt.. [+] XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; defective biosynthesis of proteodermatan sulfate; Ehlers-Danlos syndrome progeroid type; [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
Ehlers-Danlos syndrome spondylodysplastic type 3		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. [-]
Ehrlich tumor carcinoma	Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich.. [+] Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich's tumour; [-]	n_a
Eiken syndrome	bone modeling defect of hands and feet; Eiken skel.. [+] bone modeling defect of hands and feet; Eiken skeletal dysplasia; [-]	A bone development disease characterized by severe..[+] A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
Ellis-Van Creveld syndrome	Chondroectodermal dysplasia (disorder); mesoectode.. [+] Chondroectodermal dysplasia (disorder); mesoectodermal dysplasia; Chondroectodermal dysplasia; Ellis-van Creveld syndrome; [-]	A syndrome characterized by short limbs, short rib..[+] A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. [-]
Elsahy-Waters syndrome	branchioskeletogenital syndrome;	A syndrome that is characterized by brachycephaly,..[+] A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. [-]
Emery-Dreifuss muscular dystrophy	EDMD;	A muscular dystrophy that chiefly affects muscles ..[+] A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. [-]	4 articles
Epstein-Barr virus hepatitis		A viral hepatitis that results_in inflammation, lo..[+] A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. [-]
Epstein-Barr virus infectious disease	EBV Infection; Epstein-Barr virus infection (disor.. [+] EBV Infection; Epstein-Barr virus infection (disorder); Tumor Virus Infections; Epstein-Barr virus infection; [-]	A viral infectious disease that has_material_basis..[+] A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. [-]
Erdheim-Chester disease		A non-Langerhans-cell histiocytosis that is charac..[+] A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. [-]
Evans' syndrome		n_a
Ewing sarcoma	Ewing's sarcoma/peripheral primitive neuroectoderm.. [+] Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewing's tumor; Ewings sarcoma; localized Ewing's tumor; localized peripheral primitive neuroectodermal tumor; PNET of Thoracopulmonary Region; Ewing's family localized tumor; localized Ewing sarcoma; peripheral primitive neuroectodermal tumor; localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor; Ewings sarcoma-primitive neuroectodermal tumor; localized Ewing's sarcoma; [-]	A connective tissue cancer that has_material_basis..[+] A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. [-]
Ewing sarcoma of bone	bone Ewing's sarcoma; bone localized Ewing sarcoma.. [+] bone Ewing's sarcoma; bone localized Ewing sarcoma; bone localized Ewing's sarcoma; localized Skeletal Ewing's sarcoma; Skeletal Ewing's tumor; bone Ewing sarcoma; Ewing's sarcoma of bone; Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor; [-]	A peripheral primitive neuroectodermal tumor that ..[+] A peripheral primitive neuroectodermal tumor that is located_in bone. [-]
FG syndrome	Keller syndrome; Opitz-Kaveggia syndrome;	A syndrome characterized by retardation, hyperacti..[+] A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. [-]
Fabry disease	Alpha-galactosidase A deficiency; Angiokeratoma Co.. [+] Alpha-galactosidase A deficiency; Angiokeratoma Corporis Diffusum; alpha galactosidase deficiency; Fabry's disease; deficiency of melibiase; Fabry Disease, Cardiac Variant; [-]	A sphingolipidosis that is characterized by the bu..[+] A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. [-]
Fanconi anemia	Fanconi panmyelopathy; Fanconi pancytopenia; Fanco.. [+] Fanconi panmyelopathy; Fanconi pancytopenia; Fanconi anaemia; Fanconi's anaemia; Fanconi's anemia; [-]	A congenital hypoplastic anemia characterized by p..[+] A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. [-]	13 articles
Fanconi anemia complementation group A	FANCA;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. [-]	1 articles
Fanconi anemia complementation group B	FA2; FACB; Fanconi pancytopenia type 2; FANCB;	A Fanconi anemia that has_material_basis_in mutati..[+] A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. [-]
Fanconi anemia complementation group C	FACC; FANCC; Fanconi pancytopenia type 3; FA3;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. [-]
Fanconi anemia complementation group D1	FAD1; FANCD1;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. [-]
Fanconi anemia complementation group D2	FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. [-]
Fanconi anemia complementation group E	FACE; FANCE;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. [-]
Fanconi anemia complementation group F	FANCF;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. [-]
Fanconi anemia complementation group G	FANCG;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. [-]
Fanconi anemia complementation group I	FANCI;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. [-]
Fanconi anemia complementation group J	FANCJ;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. [-]	1 articles
Fanconi anemia complementation group L	FANCL;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. [-]
Fanconi anemia complementation group N	FANCN;	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. [-]
Fanconi anemia complementation group O	FANCO;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. [-]
Fanconi anemia complementation group P	FANCP;	A Fanconi anemia characterized by increased chromo..[+] A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. [-]
Fanconi anemia complementation group Q	FANCQ;	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. [-]
Fanconi anemia complementation group R	FANCR;	A Fanconi anemia that has_material_basis_in hetero..[+] A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. [-]	1 articles
Fanconi anemia complementation group T	FANCT;	A Fanconi anemia that has_material_basis_in compou..[+] A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. [-]
Fanconi anemia complementation group U	FANCU;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. [-]
Fanconi anemia complementation group V	FANCV;	A Fanconi anemia that has_material_basis_in homozy..[+] A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. [-]
Fanconi renotubular syndrome 1		A Fanconi syndrome that has_material_basis_in hete..[+] A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. [-]
Fanconi renotubular syndrome 2		A Fanconi syndrome that has_material_basis_in homo..[+] A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. [-]
Fanconi renotubular syndrome 3		A Fanconi syndrome that is characterized by charac..[+] A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. [-]
Fanconi renotubular syndrome 4		A Fanconi syndrome that has_material_basis_in hete..[+] A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. [-]
Fanconi renotubular syndrome 5	Acadian-variant Fanconi syndrome;	A Fanconi syndrome that is characterized by proxim..[+] A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. [-]
Fanconi syndrome	adult Fanconi syndrome; De Toni-Fanconi syndrome; .. [+] adult Fanconi syndrome; De Toni-Fanconi syndrome; Fanconi-de Toni syndrome; Fanconi-de-Toni syndrome; Infantile nephropathic cystinosis; Lignac-Fanconi syndrome; Congenital Fanconi syndrome (disorder); Congenital Fanconi syndrome; deToni Fanconi syndrome; adult Fanconi Anemia; [-]	A renal tubular transport disease of the proximal ..[+] A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. [-]	2 articles
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]	1 articles

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