TaoMedAI/RareMedData huggingface dataset:
Gene: MTOR
Phenotype: Intestinal polyp (HP:0005266)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Long philtrum (HP:0000343)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Long philtrum (HP:0000343)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: High forehead (HP:0000348)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Short chin (HP:0000331)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Short chin (HP:0000331)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: EEG with focal sharp slow waves (HP:0011195)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Strabismus (HP:0000486)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Strabismus (HP:0000486)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Pes planus (HP:0001763)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Hemihypsarrhythmia (HP:0011215)
Associated disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Gene: MTOR
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MINDS syndrome; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome; Smith-Kingsmore syndrome (ORPHA:457485)
Gene: MTOR
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: MTOR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SMITH-KINGSMORE SYNDROME (OMIM:616638)
Gene: FRG1
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Seizure (HP:0001250)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Seizure (HP:0001250)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Transverse smile (HP:6000864)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Scapulohumeral muscular dystrophy (HP:0008970)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Dysphagia (HP:0002015)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Steppage gait (HP:0003376)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Camptocormia (HP:0100595)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Facial palsy (HP:0010628)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Frequent falls (HP:0002359)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Inability to protrude lips (HP:6001010)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Inability to puff cheeks (HP:6001102)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Exudative retinal detachment (HP:0012231)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Straight clavicles (HP:0006587)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRG1
Phenotype: Keratitis (HP:0000491)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Visual loss (HP:0000572)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Chronic pain (HP:0012532)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: FRG1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
Gene: FRZB
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 1 (OMIM:165720)
Gene: FRZB
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 1 (OMIM:165720)
Gene: FSHB
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Azoospermia (HP:0000027)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Azoospermia (HP:0000027)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Hypogonadism (HP:0000135)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Hyperplasia of the Leydig cells (HP:0010791)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Infertility (HP:0000789)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Abnormal sperm morphology (HP:0012864)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Bilateral breast hypoplasia (HP:0012814)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Decreased female libido (HP:0030018)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Anosmia (HP:0000458)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHB
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA (OMIM:229070)
Gene: FSHB
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Isolated follicle stimulating hormone deficiency; Isolated FSH deficiency (ORPHA:52901)
Gene: FSHR
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FSHR
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FSHR
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FSHR
Phenotype: Generalized edema (HP:0007430)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FSHR
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: OHSS; Ovarian hyperstimulation syndrome (ORPHA:64739)
Gene: FSHR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FSHR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 1 (OMIM:233300)