TaoMedAI/RareMedData huggingface dataset:
Gene: AGXT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Arterial occlusion (HP:0025324)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Dysuria (HP:0100518)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Gangrene (HP:0100758)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Elevated urinary glycolic acid level (HP:6000431)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Retinal crystals (HP:0030507)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Dehydration (HP:0001944)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Anemia (HP:0001903)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Enuresis (HP:0000805)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Hematuria (HP:0000790)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Hematuria (HP:0000790)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Calcinosis cutis (HP:0025520)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Reduced hepatic alanine-glyoxylate aminotransferase activity (HP:0035005)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Abnormal circulating enzyme concentration (HP:0011021)
Associated disease: Primary hyperoxaluria type 1; Peroxisomal alanine-glyoxylate aminotransferase deficiency; Glycolic aciduria (ORPHA:93598)
Gene: AGXT
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: AGXT
Phenotype: Retinopathy (HP:0000488)
Associated disease: HYPEROXALURIA, PRIMARY, TYPE I (OMIM:259900)
Gene: NR0B1
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
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: NR0B1
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: NR0B1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: NR0B1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
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: NR0B1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: NR0B1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
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: NR0B1
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
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: NR0B1
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: NR0B1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Azoospermia (HP:0000027)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: NR0B1
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: NR0B1
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: 46,XY SEX REVERSAL 2 (OMIM:300018)
Gene: NR0B1
Phenotype: Nausea (HP:0002018)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Diarrhea (HP:0002014)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Vomiting (HP:0002013)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
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: NR0B1
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
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: NR0B1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Decreased libido (HP:0046504)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
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: NR0B1
Phenotype: Vertigo (HP:0002321)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Dehydration (HP:0001944)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
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: NR0B1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
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: NR0B1
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: NR0B1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
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: NR0B1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR0B1
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 2 (OMIM:300018)
Gene: NR0B1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Fatigue (HP:0012378)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: ADRENAL HYPOPLASIA, CONGENITAL (OMIM:300200)
Gene: NR0B1
Phenotype: Hyponatremia (HP:0002902)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Weight loss (HP:0001824)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: NR0B1
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: X-linked congenital adrenal hypoplasia; X-linked adrenal hypoplasia congenita; X-linked AHC (ORPHA:95702)
Gene: AHCY
Phenotype: Abnormal circulating homocysteine concentration (HP:0010919)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Abnormal circulating methionine concentration (HP:0010901)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Increased circulating creatine kinase MM isoform (HP:0032234)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Poor head control (HP:0002421)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Poor head control (HP:0002421)
Associated disease: S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
Gene: AHCY
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)
Gene: AHCY
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (OMIM:613752)