TaoMedAI/RareMedData huggingface dataset:
Gene: FN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Small earlobe (HP:0000385)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Flat face (HP:0012368)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Fibronectin glomerulopathy; Glomerulopathy with fibronectin deposits; GFND (ORPHA:84090)
Gene: FN1
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Abnormal circulating osteocalcin level (HP:0031427)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Glomerulomegaly (HP:0030162)
Associated disease: GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (OMIM:601894)
Gene: FN1
Phenotype: Genu varum (HP:0002970)
Associated disease: SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE (OMIM:184255)
Gene: FN1
Phenotype: Genu varum (HP:0002970)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Pointed chin (HP:0000307)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Strabismus (HP:0000486)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short neck (HP:0000470)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Proptosis (HP:0000520)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FN1
Phenotype: Myopia (HP:0000545)
Associated disease: Spondylometaphyseal dysplasia, 'corner fracture' type; Spondylometaphyseal dysplasia, Sutcliffe type (ORPHA:93315)
Gene: FOLR1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Gene: FOLR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Gene: FOLR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Gene: FOLR1
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Gene: FOLR1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY (OMIM:613068)
Gene: FOS
Phenotype: Large hands (HP:0001176)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Bone cyst (HP:0012062)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Macroglossia (HP:0000158)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Precocious puberty in females (HP:0010465)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOS
Phenotype: Long foot (HP:0001833)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: FOSL2
Phenotype: Seizure (HP:0001250)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Infantile onset (HP:0003593)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Hypodontia (HP:0000668)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Childhood onset (HP:0011463)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Dry skin (HP:0000958)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Sparse hair (HP:0008070)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Small nail (HP:0001792)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Cataract (HP:0000518)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FOSL2
Phenotype: Fragile nails (HP:0001808)
Associated disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Gene: FXN
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Visual field defect (HP:0001123)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Ataxia (HP:0001251)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Ataxia (HP:0001251)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Spasticity (HP:0001257)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Inability to walk (HP:0002540)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Falls (HP:0002527)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Abnormality of central motor conduction (HP:0012079)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Dystonia (HP:0001332)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Urinary urgency (HP:0000012)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Dysmetria (HP:0001310)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Scoliosis (HP:0002650)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Scoliosis (HP:0002650)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Scoliosis (HP:0002650)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Square-wave jerks (HP:0025402)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Dysphagia (HP:0002015)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Intention tremor (HP:0002080)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Muscle spasm (HP:0003394)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Chorea (HP:0002072)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Limb ataxia (HP:0002070)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Limb ataxia (HP:0002070)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Gait imbalance (HP:0002141)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Gene: FXN
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: FRIEDREICH ATAXIA (OMIM:229300)
Gene: FXN
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Sleep apnea (HP:0010535)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)
Gene: FXN
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: FRDA; FA; Friedreich ataxia (ORPHA:95)