Echinobase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 ???pagination.result.next???

Disease	Synonyms	Description
Feingold syndrome	FGLDS; digital anomalies with short palpebral fiss.. [+] FGLDS; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; microcephaly-digital anomalies-normal intelligence syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
fibrochondrogenesis		n_a
fetal 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; autosomal recessive ben.. [+] familial erythrocytosis 2; autosomal recessive benign erythrocytosis; Chuvash erythromatosis; Chuvash type polycythemia; 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 hypocalciuric hype.. [+] FHH; FBHH; FBH; familial benign hypocalciuric hypercalcemia; familial benign hypercalcemia [-]	A hypercalcemia characterized byautosomal dominant..[+] A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. [-]
familial hypocalciuric hypercalcemia 1	FHH type 1; familial hypocalciuric hypercalcemia t.. [+] FHH type 1; familial hypocalciuric hypercalcemia type I; familial benign hypercalcemia 1; 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	FHH type 2; familial hypocalciuric hypercalcemia t.. [+] FHH type 2; familial hypocalciuric hypercalcemia 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	ETL1; partial epilepsy with auditory features	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	FMTLE; familial mesial temporal lobe epilepsy	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; ETL4; occipitotemporal lobe epilepsy and mi.. [+] EPOLM; ETL4; occipitotemporal lobe epilepsy and migraine with aura [-]	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). [-]
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 hyperinsulinemic hypoglycemia 7	EIHI; exercise-induced hyperinsulinemic hypoglycem.. [+] EIHI; exercise-induced hyperinsulinemic hypoglycemia; exercise-induced hyperinsulinism; HHF7; hyperinsulinism due to monocarboxylate transporter 1 deficiency; 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. [-]
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 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 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 glucocorticoid deficiency		An adrenal cortex disease that is characterized by..[+] An adrenal cortex disease that is characterized by insufficent production of glucocorticoids. [-]
fibrochondrogenesis 1		A fibrochondrogenesis that is characterized by a f..[+] A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. [-]
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 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. [-]
frontonasal dysplasia		A syndrome that is a cleft in thes nose, a broad n..[+] A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. [-]
familial hyperinsulinemic hypoglycemia 8		A hyperinsulinemic hypoglycemia characterized by p..[+] A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. [-]
Fraser syndrome	cryptophthalmos with other malformations	An autosomal recessive disease characterized by cr..[+] An autosomal recessive disease characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. [-]
familial isolated deficiency of vitamin E	familial isolated vitamin E deficiency; ataxia wit.. [+] familial isolated vitamin E deficiency; ataxia with isolated vitamin E deficiency [-]	A vitamin metabolic disorder characterized by prog..[+] A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. [-]
familial cold autoinflammatory syndrome		A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. [-]
familial cold autoinflammatory syndrome 1		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. [-]
familial cold autoinflammatory syndrome 2	NLRP12-associated hereditary periodic fever syndro.. [+] NLRP12-associated hereditary periodic fever syndrome [-]	A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. [-]
familial cold autoinflammatory syndrome 3		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. [-]
familial cold autoinflammatory syndrome 4		A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in heterozygous mutation in the NLRC4 gene on chromosome 2p22. [-]
Fanconi-like syndrome		A syndrome characterized by pancytopenia, immune d..[+] A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. [-]
Fuhrmann syndrome		A bone development disease characterized by autoso..[+] A bone development disease characterized by autosomal recessive inheritance of bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in homozygous mutation in the WNT7A gene on chromosome 3p25. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis-3	FTDALS3; frontotemporal dementia and/or amyotrophi.. [+] FTDALS3; frontotemporal dementia and/or amyotrophic lateral sclerosis 3 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. [-]
FTDALS4	frontotemporal dementia and/or amyotrophic lateral.. [+] frontotemporal dementia and/or amyotrophic lateral sclerosis 4 [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. [-]
familial hemophagocytic lymphohistiocytosis 1	FHL1; HLH1; HPLH1	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22. [-]
familial hemophagocytic lymphohistiocytosis 2	FHL2; HLH2; HPLH2	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1. [-]
familial hemophagocytic lymphohistiocytosis 3	FHL3; HLH3; HPLH3	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1. [-]
familial hemophagocytic lymphohistiocytosis 4	FHL4; HLH4; HPLH4	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2. [-]

???pagination.result.page??? ???pagination.result.prev??? 1 2 3 4 5 6 7 8 9 10 11 ???pagination.result.next???