TaoMedAI/RareMedData huggingface dataset:
Gene: FTL
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: T2 hypointense thalamus (HP:0012690)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Iron accumulation in substantia nigra (HP:0012678)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Leg dystonia (HP:0031959)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Arm dystonia (HP:0031960)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Abnormal putamen morphology (HP:0031982)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Micrographia (HP:0031908)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Disinhibition (HP:0000734)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Emotional lability (HP:0000712)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Dementia (HP:0000726)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Psychosis (HP:0000709)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Abnormal circulating iron concentration (HP:0040130)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Abnormal circulating iron concentration (HP:0040130)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Abnormal transferrin saturation (HP:0040135)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Abnormal transferrin saturation (HP:0040135)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Alopecia (HP:0001596)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Arthralgia (HP:0002829)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Fatigue (HP:0012378)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Dysphonia (HP:0001618)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Dysphonia (HP:0001618)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Loss of voice (HP:0001686)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Decreased circulating ferritin concentration (HP:0012343)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Hypomimic face (HP:0000338)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Gene: FTL
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Weak voice (HP:0001621)
Associated disease: Adult basal ganglia disease; Neuroferritinopathy; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Gene: FTL
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Restless legs (HP:0012452)
Associated disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Gene: FTL
Phenotype: Cataract (HP:0000518)
Associated disease: Hereditary hyperferritinemia-cataract syndrome; Hereditary hyperferritinemia with cataracts; Hereditary hyperferritinemia-cataract disease; HHCS (ORPHA:163)
Gene: FTL
Phenotype: Cataract (HP:0000518)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: FTL
Phenotype: Cataract (HP:0000518)
Associated disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Gene: FTL
Phenotype: Fragile nails (HP:0001808)
Associated disease: Benign hyperferritinemia; Genetic hyperferritinemia without iron overload (ORPHA:254704)
Gene: NR5A1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
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: NR5A1
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: NR5A1
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: NR5A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
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: NR5A1
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
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: NR5A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Small scrotum (HP:0000046)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Abnormal male internal genitalia morphology (HP:0000022)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 8 (OMIM:613957)
Gene: NR5A1
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 8 (OMIM:613957)
Gene: NR5A1
Phenotype: Fused labia majora (HP:0025486)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Sex-limited expression (HP:0001470)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Sex-limited expression (HP:0001470)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
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: NR5A1
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Cryptozoospermia (HP:0030974)
Associated disease: SPERMATOGENIC FAILURE 8 (OMIM:613957)
Gene: NR5A1
Phenotype: Exaggerated rugosity of the labia majora (HP:0030913)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
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: NR5A1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: NR5A1
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)