TaoMedAI/RareMedData huggingface dataset:
Gene: POR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Increased circulating corticosterone level (HP:0032362)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal ovarian morphology (HP:0031065)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal response to ACTH stimulation test (HP:0031074)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal response to human chorionic gonadotrophin stimulation test (HP:0031083)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Enlarged polycystic ovaries (HP:0008675)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Stillbirth (HP:0003826)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Labial hypoplasia (HP:0000066)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (OMIM:613571)
Gene: POR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Fused labia minora (HP:0000063)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Small scrotum (HP:0000046)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Chordee (HP:0000041)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Micropenis (HP:0000054)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Micropenis (HP:0000054)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Decreased circulating androstenedione concentration (HP:0033812)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hypospadias (HP:0000047)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Cloverleaf skull (HP:0002676)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal male external genitalia morphology (HP:0000032)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Abnormal circulating pregnenolone concentration (HP:0031187)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Midfrontal capillary hemangioma (HP:0007466)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (OMIM:613571)
Gene: POR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Scoliosis (HP:0002650)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Fused labia majora (HP:0025486)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Fused labia majora (HP:0025486)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Elevated serum 11-deoxycortisol (HP:0025436)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Metatarsal synostosis (HP:0001440)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Decreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Increased circulating progesterone (HP:0031216)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Increased circulating progesterone (HP:0031216)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Temporal bossing (HP:0032569)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Constipation (HP:0002019)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS (OMIM:207410)
Gene: POR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Increased size of the clitoris (HP:0040253)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal metacarpal epiphysis morphology (HP:0005913)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Congenital adrenal hyperplasia (HP:0008258)
Associated disease: DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY (OMIM:613571)
Gene: POR
Phenotype: Decreased circulating progesterone (HP:0008233)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Metacarpal synostosis (HP:0009701)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Tarsal synostosis (HP:0008368)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Hirsutism (HP:0001007)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Chiari malformation (HP:0002308)
Associated disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Gene: POR
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD; POR deficiency; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (ORPHA:95699)
Gene: POR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)