TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: ACS3; SCS; Acrocephalosyndactyly type 3; Saethre-Chotzen syndrome (ORPHA:794)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Ptosis (HP:0000508)
Associated disease: JWS; Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome; Jackson-Weiss syndrome (ORPHA:1540)
Gene: FGFR2
Phenotype: Visual impairment (HP:0000505)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome; Beare-Stevenson cutis gyrata syndrome (ORPHA:1555)
Gene: FGFR2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: BEARE-STEVENSON CUTIS GYRATA SYNDROME (OMIM:123790)
Gene: FGFR2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; Familial scaphocephaly syndrome, McGillivray type (ORPHA:168624)
Gene: FGFR2
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: LACRIMOAURICULODENTODIGITAL SYNDROME (OMIM:149730)
Gene: FGFR2
Phenotype: Exotropia (HP:0000577)
Associated disease: LARD syndrome; Lacrimoauriculoradiodental syndrome; LADD syndrome; Levy-Hollister syndrome; Lacrimoauriculodentodigital syndrome (ORPHA:2363)
Gene: FGFR2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Metopic depression (HP:0011223)
Associated disease: Perinatal lethal bent bone dysplasia; FGFR2-related bent bone dysplasia (ORPHA:313855)
Gene: FGFR2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Apert syndrome; Acrocephalosyndactyly type 1; ACS1 (ORPHA:87)
Gene: FGFR2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: CROUZON SYNDROME (OMIM:123500)
Gene: FGFR2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: PFEIFFER SYNDROME (OMIM:101600)
Gene: FGFR2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Shallow orbits (HP:0000586)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGFR2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Gene: FGFR2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Gene: FGFR2
Phenotype: Visual loss (HP:0000572)
Associated disease: Pfeiffer syndrome type 2 (ORPHA:93259)
Gene: FGFR2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FGFR2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FGFR2
Phenotype: Myopia (HP:0000545)
Associated disease: APERT SYNDROME (OMIM:101200)
Gene: FGG
Phenotype: Death in childhood (HP:0003819)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Neonatal death (HP:0003811)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Joint swelling (HP:0001386)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Abnormal umbilical stump bleeding (HP:0011884)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Infantile onset (HP:0003593)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Congenital onset (HP:0003577)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGG
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGG
Phenotype: Hematemesis (HP:0002248)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGG
Phenotype: Persistent bleeding after trauma (HP:0001934)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Menometrorrhagia (HP:0400008)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Childhood onset (HP:0011463)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Death in adolescence (HP:0011421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Epidural hemorrhage (HP:0100310)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Afibrinogenemia (HP:0034287)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Splenic rupture (HP:0012223)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGG
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGG
Phenotype: Death in infancy (HP:0001522)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Prolonged bleeding following circumcision (HP:0030137)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Epistaxis (HP:0000421)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGG
Phenotype: Epistaxis (HP:0000421)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FGG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: AFIBRINOGENEMIA, CONGENITAL (OMIM:202400)
Gene: FGG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial afibrinogenemia (ORPHA:98880)
Gene: FGG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial dysfibrinogenemia (ORPHA:98881)
Gene: FGG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial hypofibrinogenemia (ORPHA:101041)
Gene: FH
Phenotype: Open operculum (HP:0100954)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Poor head control (HP:0002421)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Lethargy (HP:0001254)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Seizure (HP:0001250)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypotonia (HP:0001252)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Coma (HP:0001259)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Multiple cutaneous leiomyomas (HP:0007437)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Multiple cutaneous leiomyomas (HP:0007437)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Hepatic failure (HP:0001399)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Dystonia (HP:0001332)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Lissencephaly (HP:0001339)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Cutaneous leiomyoma (HP:0007620)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Cutaneous leiomyoma (HP:0007620)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Cutaneous leiomyoma (HP:0007620)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Uterine leiomyoma (HP:0000131)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Vomiting (HP:0002013)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Status epilepticus (HP:0002133)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Decreased fumarate hydratase activity (HP:0003536)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Decreased fumarate hydratase activity (HP:0003536)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Decreased fumarate hydratase activity (HP:0003536)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Polycythemia (HP:0001901)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Polycythemia (HP:0001901)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Second trimester onset (HP:0034198)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: HLRCC; Hereditary leiomyomatosis with renal carcinoma; Hereditary leiomyomatosis and renal cell cancer; Hereditary multiple cutaneous leiomyomas; Multiple cutaneous and uterine leiomyomas; Familial leiomyomatosis cutis et uteri; Familial leiomyomatosis and renal cell cancer; Hereditary leiomyomatosis; Familial multiple cutaneous leiomyomas; Familial leiomyomatosis with renal carcinoma; Reed syndrome; MCUL (ORPHA:523)
Gene: FH
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Mitochondrial swelling (HP:0030774)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)