TaoMedAI/RareMedData huggingface dataset:
Gene: FH
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Increased urine succinate level (HP:0033092)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Pallor (HP:0000980)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Pruritus (HP:0000989)
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: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Microcephaly (HP:0000252)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: High palate (HP:0000218)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Uterine leiomyosarcoma (HP:0002891)
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: Failure to thrive in infancy (HP:0001531)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Ascites (HP:0001541)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Dysphonia (HP:0001618)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Bilateral polymicrogyria (HP:0025646)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Premature birth (HP:0001622)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Bilateral fetal pyelectasis (HP:0011129)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FH
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Cutaneous leiomyosarcoma (HP:0006755)
Associated disease: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER (OMIM:150800)
Gene: FH
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Papillary renal cell carcinoma type 2 (HP:0006732)
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: Cataract (HP:0000518)
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: Aniridia (HP:0000526)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Weight loss (HP:0001824)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: FH
Phenotype: Visual impairment (HP:0000505)
Associated disease: FUMARASE DEFICIENCY (OMIM:606812)
Gene: FH
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Fumaric aciduria; Fumarase deficiency (ORPHA:24)
Gene: FHL1
Phenotype: Broad palm (HP:0001169)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Myotonia (HP:0002486)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Poor head control (HP:0002421)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Scapuloperoneal weakness (HP:0003704)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Areflexia (HP:0001284)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Proximal upper limb amyotrophy (HP:0008948)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Limited neck flexion (HP:0005991)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Steppage gait (HP:0003376)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Dislocation of toes (HP:0008141)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Back pain (HP:0003418)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Back pain (HP:0003418)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Scapular winging (HP:0003691)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Scapular winging (HP:0003691)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Frequent falls (HP:0002359)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Progressive (HP:0003676)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Scapuloperoneal myopathy (HP:0009054)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Difficulty running (HP:0009046)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Synophrys (HP:0000664)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Death in adolescence (HP:0011421)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Myopathy (HP:0003198)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET (OMIM:300717)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: X-linked Emery-Dreifuss muscular dystrophy (ORPHA:98863)
Gene: FHL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Gene: FHL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (OMIM:300696)
Gene: FHL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Forearm supination contracture (HP:0034394)
Associated disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (OMIM:300695)
Gene: FHL1
Phenotype: Muscle fiber intracytoplasmic reducing inclusion bodies (HP:0034320)
Associated disease: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET (OMIM:300718)