TaoMedAI/RareMedData huggingface dataset:
Gene: TNNT3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Broad hallux (HP:0010055)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Short stature (HP:0004322)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Narrow face (HP:0000275)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: High palate (HP:0000218)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Triangular face (HP:0000325)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Short neck (HP:0000470)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Webbed neck (HP:0000465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: TNNT3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Sandal gap (HP:0001852)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNNT3
Phenotype: Short toe (HP:0001831)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Gene: TNNT3
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: TNR
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: CNS demyelination (HP:0007305)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Apraxia (HP:0002186)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNR
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Gene: TNS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNS1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNS1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNS1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNS1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TNXB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Stroke (HP:0001297)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Hypotonia (HP:0001252)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Gene: TNXB
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Gene: TNXB
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Gene: TNXB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Gene: TNXB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Gene: TNXB
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Myalgia (HP:0003326)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Striae distensae (HP:0001065)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Joint subluxation (HP:0032153)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Thin skin (HP:0000963)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Arthralgia (HP:0002829)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Arthralgia (HP:0002829)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Fatigue (HP:0012378)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1; Classical-like Ehlers-Danlos syndrome type 1 (ORPHA:230839)
Gene: TNXB
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TNXB
Phenotype: Quadricuspid aortic valve (HP:0031655)
Associated disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Gene: TOP3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Ataxia (HP:0001251)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Dysarthria (HP:0001260)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Increased susceptibility to spontaneous sister chromatid exchange (HP:0010998)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Malar rash (HP:0025300)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Dysmetria (HP:0001310)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Dysphagia (HP:0002015)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Late onset (HP:0003584)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Diplopia (HP:0000651)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Mildly reduced left ventricular ejection fraction (HP:0012663)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Gene: TOP3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Gene: TOP3A
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)