TaoMedAI/RareMedData huggingface dataset:
Gene: TBCE
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME (OMIM:241410)
Gene: TBCE
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBCE
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBL1X
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Inappropriately normal thyroid-stimulating hormone level (HP:0033075)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBL1X
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8 (OMIM:301033)
Gene: TBP
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Confusion (HP:0001289)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Ataxia (HP:0001251)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Spasticity (HP:0001257)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Cerebellar Purkinje layer atrophy (HP:0012082)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Dystonia (HP:0001332)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Impaired pursuit initiation and maintenance (HP:0007668)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Rigidity (HP:0002063)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Rigidity (HP:0002063)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Chorea (HP:0002072)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Apraxia (HP:0002186)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Gliosis (HP:0002171)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Paranoia (HP:0011999)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Generalized cerebral atrophy/hypoplasia (HP:0007058)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Mutism (HP:0002300)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Lack of insight (HP:0000757)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Hallucinations (HP:0000738)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Frontal release signs (HP:0000743)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Depression (HP:0000716)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Dementia (HP:0000726)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBP
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Gene: TBP
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: TBP
Phenotype: Torticollis (HP:0000473)
Associated disease: Huntington disease-like 4; Spinocerebellar ataxia type 17; SCA17; HDL4 (ORPHA:98759)
Gene: TBX2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Scoliosis (HP:0002650)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Narrow palate (HP:0000189)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Cleft lip (HP:0410030)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Glabellar hemangioma (HP:0001076)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Short stature (HP:0004322)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Kyphosis (HP:0002808)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Abnormal B cell morphology (HP:0002846)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Cupped ear (HP:0000378)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Low-set ears (HP:0000369)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Triangular face (HP:0000325)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Short neck (HP:0000470)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Webbed neck (HP:0000465)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX2
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION (OMIM:618223)
Gene: TBX5
Phenotype: Split hand (HP:0001171)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Syndactyly (HP:0001159)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Abnormal carpal morphology (HP:0001191)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Syncope (HP:0001279)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Seizure (HP:0001250)
Associated disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Gene: TBX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Ulnar deviation of thumb (HP:0006156)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TBX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Scoliosis (HP:0002650)
Associated disease: HOS; Heart-hand syndrome type 1; Holt-Oram syndrome; Atriodigital dysplasia type 1 (ORPHA:392)
Gene: TBX5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Aplasia of the ulna (HP:0003982)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Absent radius (HP:0003974)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TBX5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TBX5
Phenotype: Cor triatriatum sinister (HP:0031134)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)
Gene: TBX5
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: HOLT-ORAM SYNDROME (OMIM:142900)