TaoMedAI/RareMedData huggingface dataset:
Gene: NR2F1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Strabismus (HP:0000486)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Protruding ear (HP:0000411)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Protruding ear (HP:0000411)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Darwin tubercle of helix (HP:0011261)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Exotropia (HP:0000577)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Keratoconus (HP:0000563)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Esotropia (HP:0000565)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
Gene: NR2F1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NR2F1
Phenotype: Myopia (HP:0000545)
Associated disease: BBSOAS; Optic atrophy-intellectual disability syndrome; Bosch-Boonstra-Schaaf optic atrophy syndrome (ORPHA:401777)
Gene: NR2F2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NR2F2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NR2F2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Aplasia of the left hemidiaphragm (HP:0009112)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NR2F2
Phenotype: Increased serum testosterone level (HP:0030088)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NR2F2
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 46,XX SEX REVERSAL 5 (OMIM:618901)
Gene: NR2F2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NR2F2
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (OMIM:615779)
Gene: NR2F2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TFE3
Phenotype: Tapered finger (HP:0001182)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: EEG with occipital focal spikes (HP:0012016)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: EEG with parietal focal spikes (HP:0012017)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: EEG with central focal spikes (HP:0012014)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Open mouth (HP:0000194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Cleft palate (HP:0000175)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Cleft lip (HP:0410030)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RENAL CELL CARCINOMA, Xp11-ASSOCIATED (OMIM:300854)
Gene: TFE3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Bifid nose (HP:0011803)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Cholecystitis (HP:0001082)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, Xp11-ASSOCIATED (OMIM:300854)
Gene: TFE3
Phenotype: Amblyopia (HP:0000646)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Short attention span (HP:0000736)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Broad ribs (HP:0000885)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Full cheeks (HP:0000293)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Broad long bone diaphyses (HP:0006371)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Genu valgum (HP:0002857)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Obesity (HP:0001513)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFE3
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES (OMIM:301066)
Gene: TFR2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Arthritis (HP:0001369)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Amenorrhea (HP:0000141)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Impotence (HP:0000802)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Purpura (HP:0000979)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Fatigue (HP:0012378)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFR2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HEMOCHROMATOSIS, TYPE 3 (OMIM:604250)
Gene: TFRC
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Intermittent thrombocytopenia (HP:0004854)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TFRC
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 46 (OMIM:616740)
Gene: TG
Phenotype: Lethargy (HP:0001254)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TG
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Positive perchlorate discharge test (HP:0025482)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Reduced radioactive iodine uptake (HP:0031219)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Increased radioactive iodine uptake (HP:0031220)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Hypothermia (HP:0002045)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TG
Phenotype: Thyroid defect in oxidation and organification of iodide (HP:0008263)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)