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Disease	Synonyms	Description	Articles
fibrochondrogenesis		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. [-]
fetal valproate syndrome	foetal valproic acid syndrome; foetal valproate sy.. [+] foetal valproic acid syndrome; foetal valproate syndrome; fetal valproic acid syndrome [-]	A syndrome characterized by distinctive facial app..[+] A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. [-]
familial erythrocytosis 2	familial erythrocytosis 2; Chuvash erythromatosis; .. [+] familial erythrocytosis 2; Chuvash erythromatosis; Chuvash type polycythemia; autosomal recessive benign erythrocytosis; Chuvash polycythemia; ECYT2 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
fruit allergy		A food allergy triggered by a plant fruit product.
fish allergy		A food allergy triggered by fish.
fetal nicotine spectrum disorder		A specific developmental disorder that is characte..[+] A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. [-]
fetal encasement syndrome	fetal encasement syndrome; cocoon syndrome	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. [-]
familial erythrocytosis 1	autosomal dominant benign erythrocytosis; primary .. [+] autosomal dominant benign erythrocytosis; primary familial and congenital polycythemia; ECYT1 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. [-]
familial hypocalciuric hypercalcemia	FBH; FBHH; FHH; familial benign hypercalcemia; fam.. [+] familial benign hypercalcemia; FHH; FBHH; FBH; familial benign hypocalciuric hypercalcemia [-]	A hypercalcemia characterized by autosomal dominan..[+] A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. [-]	1 articles
familial hypocalciuric hypercalcemia 1	FHH type 1; familial benign hypercalcemia 1; famil.. [+] familial benign hypercalcemia 1; FHH type 1; familial hypocalciuric hypercalcemia type I; HHC1; hypocalciuric hypercalcemia type I [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. [-]
familial hypocalciuric hypercalcemia 2	familial hypocalciuric hypercalcemia type 2; FHH t.. [+] familial hypocalciuric hypercalcemia type 2; FHH type 2; HHC2; hypocalciuric hypercalcemia type II [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. [-]
familial hypocalciuric hypercalcemia 3	FHH type 3; familial hypocalciuric hypercalcemia t.. [+] FHH type 3; familial hypocalciuric hypercalcemia type 3; HHC3; hypocalciuric hypercalcemia type III [-]	A familial hypocalciuric hypercalcemia that has_ma..[+] A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. [-]
familial temporal lobe epilepsy 1	partial epilepsy with auditory features; ETL1	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. [-]
familial temporal lobe epilepsy 6	ETL6	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. [-]
familial temporal lobe epilepsy 3	familial mesial temporal lobe epilepsy; FMTLE	A temporal lobe epilepsy characterized by simple o..[+] A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. [-]
familial temporal lobe epilepsy 7	ETL7	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. [-]
familial temporal lobe epilepsy 5	ETL5	A temporal lobe epilepsy that has_material_basis_i..[+] A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. [-]
familial temporal lobe epilepsy 4	EPOLM; occipitotemporal lobe epilepsy and migraine.. [+] EPOLM; occipitotemporal lobe epilepsy and migraine with aura; ETL4 [-]	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. [-]
familial temporal lobe epilepsy 8	ETL8	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. [-]
familial temporal lobe epilepsy 2	ETL2	A temporal lobe epilepsy characterized by autosoma..[+] A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. [-]
familial chronic myelocytic leukemia-like syndrome	familial CML-like syndrome	A chronic myeloid leukemia characterized by chroni..[+] A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). [-]
facioscapulohumeral muscular dystrophy 3	FSHD3; facioscapulohumeral muscular dystrophy type.. [+] FSHD3; facioscapulohumeral muscular dystrophy type 3 [-]	A facioscapulohumeral muscular dystrophy character..[+] A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. [-]
facioscapulohumeral muscular dystrophy 4	FSHD4; facioscapulohumeral muscular dystrophy type.. [+] FSHD4; facioscapulohumeral muscular dystrophy type 4 [-]	A facioscapulohumeral muscular dystrophy character..[+] A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. [-]
familial partial lipodystrophy type 2	FPLD2; familial partial lipodystrophy Dunnigan typ.. [+] FPLD2; familial partial lipodystrophy Dunnigan type; familial lipodystrophy of limbs and lower trunk; reverse partial lipodystrophy [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
familial partial lipodystrophy type 5	FPLD5; familial partial lipodystrophy associated w.. [+] FPLD5; familial partial lipodystrophy associated with CIDEC mutations; CIDEC-related FPLD [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. [-]
familial partial lipodystrophy type 3	FPLD3; familial partial lipodystrophy associated w.. [+] FPLD3; familial partial lipodystrophy associated with PPARG mutations; PPARG-related familial partial lipodystrophy; PPARG-related FPLD [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. [-]
familial partial lipodystrophy type 4	FPLD4; familial partial lipodystrophy associated w.. [+] FPLD4; familial partial lipodystrophy associated with PLIN1 mutations; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. [-]
familial partial lipodystrophy type 6	FPLD6; familial partial lipodystrophy associated w.. [+] FPLD6; familial partial lipodystrophy associated with LIPE mutations; LIPE-related familial partial lipodystrophy; LIPE-related FPLD [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. [-]
familial partial lipodystrophy type 1	FPLD1; familial partial lipodystrophy Kobberling t.. [+] FPLD1; familial partial lipodystrophy Kobberling type [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. [-]
familial hyperinsulinemic hypoglycemia 7	EIHI; exercise-induced hyperinsulinism; hyperinsul.. [+] EIHI; exercise-induced hyperinsulinism; hyperinsulinism due to monocarboxylate transporter 1 deficiency; HHF7; exercise-induced hyperinsulinemic hypoglycemia; hyperinsulinism due to SLC16A1 deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. [-]
familial hyperinsulinemic hypoglycemia 4	HHF4; hyperinsulinism due to glutamodehydrogenase .. [+] HHF4; hyperinsulinism due to glutamodehydrogenase deficiency; hyperinsulinism due to SCHAD deficiency; hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. [-]
familial hyperinsulinemic hypoglycemia 3	HHF3; hyperinsulinemic hypoglycemia due to glucoki.. [+] HHF3; hyperinsulinemic hypoglycemia due to glucokinase deficiency; hyperinsulinism due to glucokinase deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. [-]
familial hyperinsulinemic hypoglycemia 6	HHF6; HI/HA syndrome; hyperinsulinism-hyperammonem.. [+] HHF6; HI/HA syndrome; hyperinsulinism-hyperammonemia syndrome [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. [-]
familial hyperinsulinemic hypoglycemia 2	Autosomal recessive hyperinsulinemic hypoglycemia .. [+] Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; HHF2; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. [-]
familial hyperinsulinemic hypoglycemia 1	HHF1	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. [-]
familial hyperinsulinemic hypoglycemia 5	HHF5; hyperinsulinemic hypoglycemia due to INSR de.. [+] HHF5; hyperinsulinemic hypoglycemia due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinism due to INSR deficiency [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. [-]
familial multiple lipomatosis		A lipomatosis characterized by the development of ..[+] A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. [-]
foveal hypoplasia 1	FVH1; foveal hypoplasia-presenile cataract syndrom.. [+] FVH1; foveal hypoplasia-presenile cataract syndrome; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; O'Donnell-Pappas syndrome [-]	A retinal disease characterized by foveal hypoplas..[+] A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
foveal hypoplasia 2	FVH2; foveal hypoplasia, optic nerve decussation d.. [+] FVH2; foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; FHONDA syndrome; FHONDA [-]	A retinal disease characterized by foveal hypoplas..[+] A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. [-]
fibrous dysplasia		A bone remodeling disease that results_in the dest..[+] A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. [-]
fibrogenesis imperfecta ossium	Baker's disease	A syndrome that involves abnormality of collagen s..[+] A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. [-]
familial erythrocytosis 5	ECYT5	A primary polycythemia characterized by autosomal ..[+] A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. [-]
familial hypertrophic cardiomyopathy		A hypertrophic cardiomyopathy that is characterize..[+] A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. [-]
familial erythrocytosis 3	ECYT3	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. [-]
familial erythrocytosis 4	ECYT4	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. [-]
familial adenomatous polyposis 1		A familial adenomatous polyposis that has_material..[+] A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. [-]
familial adenomatous polyposis 2	MUTYH-related attenuated familial adenomatous poly.. [+] MUTYH-related attenuated familial adenomatous polyposis; MUTYH-related attenuated familial polyposis coli; MUTYH-related attenuated FAP; MUTYH-associated polyposis [-]	A familial adenomatous polyposis that has_material..[+] A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. [-]
familial adenomatous polyposis 3		A familial adenomatous polyposis that has_material..[+] A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. [-]
familial adenomatous polyposis 4		A familial adenomatous polyposis characterized by ..[+] A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. [-]
familial glucocorticoid deficiency		An adrenal cortex disease that is characterized by..[+] An adrenal cortex disease that is characterized by insufficent production of glucocorticoids. [-]

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