TaoMedAI/RareMedData huggingface dataset:
Gene: THPO
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Childhood onset (HP:0011463)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Arterial thrombosis (HP:0004420)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Decreased circulating thrombopoietin concentration (HP:6000021)
Associated disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Gene: THPO
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Pruritus (HP:0000989)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Miscarriage (HP:0005268)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Splenomegaly (HP:0001744)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Abnormal platelet aggregation (HP:0030402)
Associated disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Gene: THPO
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Gene: THPO
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Gene: THPO
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THRA
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Wormian bones (HP:0002645)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Macroglossia (HP:0000158)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Drowsiness (HP:0002329)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Anemia (HP:0001903)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Increased body weight (HP:0004324)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Dry skin (HP:0000958)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Increased body mass index (HP:0031418)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Omphalocele (HP:0001539)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Hoarse voice (HP:0001609)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Impaired sensitivity to thyroid hormone (HP:0002930)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRA
Phenotype: Increased T3/T4 ratio (HP:0012559)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 (OMIM:614450)
Gene: THRB
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Specific learning disability (HP:0001328)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY (OMIM:145650)
Gene: THRB
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Increased circulating free T3 (HP:0011788)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Increased circulating free T3 (HP:0011788)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Palpitations (HP:0001962)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Increased body weight (HP:0004324)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Hyperactivity (HP:0000752)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Anxiety (HP:0000739)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Childhood onset (HP:0011463)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Elevated circulating reverse T3 concentration (HP:0034288)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Goiter (HP:0000853)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY (OMIM:145650)
Gene: THRB
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Inappropriately normal thyroid-stimulating hormone level (HP:0033075)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Small for gestational age (HP:0001518)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Fatigue (HP:0012378)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Impaired sensitivity to thyroid hormone (HP:0002930)
Associated disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY (OMIM:145650)
Gene: THRB
Phenotype: Impaired sensitivity to thyroid hormone (HP:0002930)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Impaired sensitivity to thyroid hormone (HP:0002930)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Gene: THRB
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY (OMIM:145650)
Gene: THRB
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: THRB
Phenotype: Tachycardia (HP:0001649)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Gene: THRB
Phenotype: Proptosis (HP:0000520)
Associated disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Gene: TIA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Steppage gait (HP:0003376)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Adult onset (HP:0003581)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)