TaoMedAI/RareMedData huggingface dataset:
Gene: SPTBN2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 5; SCA5 (ORPHA:98766)
Gene: SPTBN2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Spasticity (HP:0001257)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Spinocerebellar ataxia type 5; SCA5 (ORPHA:98766)
Gene: SPTBN2
Phenotype: Slurred speech (HP:0001350)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Intention tremor (HP:0002080)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Incoordination (HP:0002311)
Associated disease: Spinocerebellar ataxia type 5; SCA5 (ORPHA:98766)
Gene: SPTBN2
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Diplopia (HP:0000651)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SPTBN2
Phenotype: Jerky ocular pursuit movements (HP:0008003)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Facial myokymia (HP:0000317)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 5 (OMIM:600224)
Gene: SPTBN2
Phenotype: Strabismus (HP:0000486)
Associated disease: SCAR14; SPARCA1; Autosomal recessive spinocerebellar ataxia type 14; SPARCA; Spectrin-associated autosomal recessive cerebellar ataxia type 1; Spectrin-associated autosomal recessive cerebellar ataxia; Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome (ORPHA:352403)
Gene: SPTBN2
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 (OMIM:615386)
Gene: SRC
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Large forehead (HP:0002003)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Hypotelorism (HP:0000601)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Osteoporosis (HP:0000939)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Deeply set eye (HP:0000490)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: SRC
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRC
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 6 (OMIM:616937)
Gene: SRD5A2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Uniparental disomy (HP:0032382)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Micropenis (HP:0000054)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Steroid 5-alpha-reductase 2 deficiency; 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias (ORPHA:753)
Gene: SRD5A2
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: SRD5A2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Gene: AKR1D1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Rickets (HP:0002748)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Abnormal serum bile acid concentration (HP:0030984)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Dark urine (HP:0040319)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Diarrhea (HP:0002014)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Decreased circulating vitamin E concentration (HP:0100513)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)