TaoMedAI/RareMedData huggingface dataset:
Gene: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: DUX4L1
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: CCT5
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Spasticity (HP:0001257)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Acral ulceration (HP:0006121)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Spastic gait (HP:0002064)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Babinski sign (HP:0003487)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Clonus (HP:0002169)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Clonus (HP:0002169)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Decreased circulating apolipoprotein B concentration (HP:0034075)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: CCT5
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Foot osteomyelitis (HP:0001886)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Gene: CCT5
Phenotype: Foot osteomyelitis (HP:0001886)
Associated disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Gene: P2RX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Gene: P2RX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Gene: P2RX2
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Gene: P2RX2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Gene: P2RX2
Phenotype: Early young adult onset (HP:0025708)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (OMIM:608224)
Gene: TRIM32
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Shoulder girdle muscle atrophy (HP:0003724)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Waddling gait (HP:0002515)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Tall stature (HP:0000098)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRIM32
Phenotype: Pelvic girdle muscle atrophy (HP:0008988)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Polydactyly (HP:0010442)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Paresthesia (HP:0003401)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Gene: TRIM32
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: Limb-girdle muscular dystrophy due to TRIM32 deficiency; LGMD type 2H; Sarcotubular myopathy; LGMD due to TRIM32 deficiency; TRIM32-related LGMD R8; Limb-girdle muscular dystrophy type 2H; LGMD2H; Autosomal recessive limb-girdle muscular dystrophy type 2H; TRIM32-related limb-girdle muscular dystrophy R8 (ORPHA:1878)
Gene: TRIM32
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: TRIM32
Phenotype: Facial palsy (HP:0010628)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Gene: TRIM32
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)