TaoMedAI/RareMedData huggingface dataset:
Gene: MEFV
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial Mediterranean fever; Periodic disease; FMF; Benign paroxysmal peritonitis; Benign recurrent polyserositis; Familial paroxysmal polyserositis (ORPHA:342)
Gene: MEFV
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Cataract (HP:0000518)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Weight loss (HP:0001824)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Gene: MEFV
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEFV
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE (OMIM:608068)
Gene: MEFV
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Behçet disease (ORPHA:117)
Gene: MEFV
Phenotype: Pain (HP:0012531)
Associated disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Gene: MEIS2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Seizure (HP:0001250)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Achalasia (HP:0002571)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Large forehead (HP:0002003)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Congenital lobar overinflation (HP:0033255)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Acne (HP:0001061)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Broad hallux (HP:0010055)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Broad thumb (HP:0011304)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Short stature (HP:0004322)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Short stature (HP:0004322)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Autism (HP:0000717)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Long face (HP:0000276)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Pointed chin (HP:0000307)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Del(15)(q14); Monosomy 15q14; 15q14 microdeletion syndrome; Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
Gene: MEIS2
Phenotype: Sandal gap (HP:0001852)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MEIS2
Phenotype: Oral aversion (HP:0012523)
Associated disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Gene: MAP3K1
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: MAP3K1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: MAP3K1
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Chordee (HP:0000041)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: MAP3K1
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: MAP3K1
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Hirsutism (HP:0001007)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MAP3K1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: MAP3K1
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 6 (OMIM:613762)
Gene: MEN1
Phenotype: Large hands (HP:0001176)
Associated disease: Hypophyseal gigantism; Pituitary gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Gene: MEN1
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Insulinoma (ORPHA:97279)
Gene: MEN1
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)
Gene: MEN1
Phenotype: Hypergastrinemia (HP:0500167)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Galactorrhea (HP:0100829)
Associated disease: MEN1; Multiple endocrine neoplasia type 1; Wermer syndrome (ORPHA:652)
Gene: MEN1
Phenotype: Galactorrhea (HP:0100829)
Associated disease: PRL-secreting pituitary adenoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma; Lactotroph adenoma; PRLoma; Prolactinoma (ORPHA:2965)