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Disease	Synonyms	Description
familial hemophagocytic lymphohistiocytosis 5	FHL5; HLH5; HPLH5	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. [-]
familial hypobetalipoproteinemia 2	FHBL2; combined familial hypolipidemia	A hypobetalipoproteinemia that has material_basis_..[+] A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. [-]
familial hypobetalipoproteinemia 1	FHBL1	A hypobetalipoproteinemia that has material_basis_..[+] A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24. [-]
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 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 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 D2	Fanconi pancytopenia type 4; FANCD2; FAD2; FA4	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	FANCE; FACE	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 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 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 C	Fanconi pancytopenia type 3; FANCC; FACC; 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 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 D1	FANCD1; FAD1	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 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. [-]
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 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 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 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. [-]
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 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. [-]
Fanconi anemia complementation group B	Fanconi pancytopenia type 2; FANCB; FACB; FA2	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. [-]
focal segmental glomerulosclerosis 1	FSGS1	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2. [-]
focal segmental glomerulosclerosis 2	FSGS2	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1. [-]
focal segmental glomerulosclerosis 5	FSGS5	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of INF2 on chromosome 14q32.33. [-]
focal segmental glomerulosclerosis 6	FSGS6	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2. [-]
focal segmental glomerulosclerosis 7	FSGS7	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. [-]
focal segmental glomerulosclerosis 8	FSGS8	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2. [-]
focal segmental glomerulosclerosis 9	FSGS9	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3. [-]
familial hemiplegic migraine 2	FHM2; Familial hemiplegic migraine-2; MHP2	A familial hemiplegic migraine that has_material_b..[+] A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. [-]
familial febrile seizures 5	FEB5; familial febrile convulsions 5	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. [-]
familial febrile seizures 6	FEB6; familial febrile convulsions 6	A familial febrile seizures that has_material_basi..[+] A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. [-]
familial progressive hyperpigmentation with or without hypopigmentation	FPHH; melanosis universalis hereditaria; MUH	A skin disease characterized by progressive, diffu..[+] A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. [-]
fetal akinesia deformation sequence syndrome 2	FADS2	A fetal akinesia deformation sequence that has_mat..[+] A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. [-]
familial isolated hypoparathyroidism	FIH	A hypoparathyroidism that has_material_basis_in mu..[+] A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. [-]
Fraser syndrome 3	FRASRS3	A Fraser syndrome that has_material_basis_in homoz..[+] A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. [-]
familial chylomicronemia syndrome		A familial hyperlipidemia characterized by hypertr..[+] A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. [-]
familial lipase maturation factor 1 deficiency	familial LMF1 deficiency; combined lipase deficien.. [+] familial LMF1 deficiency; combined lipase deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; LPL and HL deficiency; LPL and HTGL deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
familial woolly hair syndrome	familial wooly hair syndrome; hereditary woolly ha.. [+] familial wooly hair syndrome; hereditary woolly hair syndrome; hereditary wooly hair syndrome; woolly hair; wooly hair [-]	A hair disease characterized by fine and tightly c..[+] A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. [-]
familial erythrocytosis 6	beta-globin type erythrocytosis; beta-globin type .. [+] beta-globin type erythrocytosis; beta-globin type polycythemia; ECYT6 [-]	A primary polycythemia characterized by high oxyge..[+] A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. [-]
familial adult myoclonic epilepsy	FCMTE; familial cortical myoclonic tremor and epil.. [+] FCMTE; familial cortical myoclonic tremor and epilepsy; FAME; BAFME; benign adult familial myoclonic epilepsy; benign adult familial myoclonus epilepsy [-]	An adolescence-adult electroclinical syndrome char..[+] An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. [-]
familial adult myoclonic epilepsy 1	FCMTE1; familial cortical myoclonic tremor and epi.. [+] FCMTE1; familial cortical myoclonic tremor and epilepsy 1; FAME1; BAFME1; benign adult familial myoclonic epilepsy 1 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. [-]
familial adult myoclonic epilepsy 7	FCMTE7; familial cortical myoclonic tremor and epi.. [+] FCMTE7; familial cortical myoclonic tremor and epilepsy 7; FAME7; BAFME7; benign adult familial myoclonic epilepsy 7 [-]	A familial adult myoclonic epilepsy that has_mater..[+] A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. [-]
familial hypertryptophanemia	HYPTRP	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. [-]
focal nonepidermolytic palmoplantar keratoderma	FNEPPK; isolated focal non-epidermolytic palmoplan.. [+] FNEPPK; isolated focal non-epidermolytic palmoplantar keratoderma [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. [-]
focal or diffuse nonepidermolytic palmoplantar keratoderma	autosomal dominant focal non-epidermolytic palmopl.. [+] autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering; PPKNEFD [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. [-]
familial episodic pain syndrome	FEPS	A peripheral neuropathy characterized by recurrent..[+] A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. [-]
familial episodic pain syndrome 2	FEPS2	A familial episodic pain syndrome characterized by..[+] A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. [-]
familial thyroid dyshormonogenesis		A congenital hypothyroidism characterized by thyro..[+] A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. [-]
focal segmental glomerulosclerosis 3	FSGS3	A focal segmental glomerulosclerosis that has_mate..[+] A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. [-]

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