TaoMedAI/RareMedData huggingface dataset:
Gene: TIA1
Phenotype: Aphasia (HP:0002381)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Memory impairment (HP:0002354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Gene: TIA1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Personality changes (HP:0000751)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Myopathy (HP:0003198)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIA1
Phenotype: Lewy bodies (HP:0100315)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Gene: TIA1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Gene: TIAM1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Growth delay (HP:0001510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIAM1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES (OMIM:619908)
Gene: TIE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Gene: TIE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Gene: TIE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Pedal edema (HP:0010741)
Associated disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Gene: TIE1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Gene: TIE1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Young adult onset (HP:0011462)
Associated disease: LYMPHATIC MALFORMATION 11 (OMIM:619401)
Gene: TIE1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: TIMP3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Large central visual field defect (HP:0001129)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Blindness (HP:0000618)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Blindness (HP:0000618)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Hyporeflective spaces on macular OCT (HP:0030625)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Abnormal fundus autofluorescence imaging (HP:0030602)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Subretinal deposits (HP:0031528)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Glaucoma (HP:0000501)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Visual loss (HP:0000572)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Gene: TIMP3
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Gene: TIMP3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TIMP3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NKX2-1
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Motor delay (HP:0001270)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Motor delay (HP:0001270)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Benign familial chorea; Benign hereditary chorea; BHC (ORPHA:1429)
Gene: NKX2-1
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Ataxia (HP:0001251)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Ataxia (HP:0001251)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Falls (HP:0002527)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Megacystis (HP:0000021)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Abnormal sella turcica morphology (HP:0002679)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Cystic pattern on pulmonary HRCT (HP:0025394)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Dystonia (HP:0001332)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Dystonia (HP:0001332)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 1 (OMIM:188550)
Gene: NKX2-1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Tachypnea (HP:0002789)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Asthma (HP:0002099)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Asthma (HP:0002099)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Chorea (HP:0002072)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Gene: NKX2-1
Phenotype: Chorea (HP:0002072)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Thyroid hemiagenesis (HP:0011780)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Thyroid dysgenesis (HP:0008188)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Apraxia (HP:0002186)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Gene: NKX2-1
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Gonadotropin deficiency (HP:0008213)
Associated disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Gene: NKX2-1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: NKX2-1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)