TaoMedAI/RareMedData huggingface dataset:
Gene: HRAS
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Redundant skin (HP:0001582)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Overgrowth (HP:0001548)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Overgrowth (HP:0001548)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: High palate (HP:0000218)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: HRAS
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Nevus spilus (HP:0025510)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Nevus spilus (HP:0025510)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Bladder carcinoma (HP:0002862)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Growth delay (HP:0001510)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Growth delay (HP:0001510)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hoarse voice (HP:0001609)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Low-set ears (HP:0000369)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Sudden death (HP:0001699)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Long philtrum (HP:0000343)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Broad forehead (HP:0000337)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Micrognathia (HP:0000347)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Round face (HP:0000311)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Premature birth (HP:0001622)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Pointed chin (HP:0000307)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Corneal opacity (HP:0007957)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Strabismus (HP:0000486)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Strabismus (HP:0000486)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Short neck (HP:0000470)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Short neck (HP:0000470)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: BLADDER CANCER (OMIM:109800)
Gene: HRAS
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Gene: HRAS
Phenotype: Renal transitional cell carcinoma (HP:0030409)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRAS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Telecanthus (HP:0000506)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Ptosis (HP:0000508)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Fragile nails (HP:0001808)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Thin nail (HP:0001816)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Deep-set nails (HP:0001814)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Deep-set nails (HP:0001814)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Unilateral renal hypoplasia (HP:0012583)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Coloboma (HP:0000589)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: HRAS
Phenotype: Coloboma (HP:0000589)
Associated disease: Phakomatosis pigmentokeratotica (ORPHA:2874)
Gene: HRAS
Phenotype: Keratoconus (HP:0000563)
Associated disease: Costello syndrome; FCS syndrome; Faciocutaneoskeletal syndrome (ORPHA:3071)
Gene: HRAS
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MELANOCYTIC NEVUS SYNDROME, CONGENITAL (OMIM:137550)
Gene: HRAS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Solomon syndrome; Nevus sebaceus syndrome; Organoid nevus syndrome; Linear nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Schimmelpenning syndrome (ORPHA:2612)
Gene: HRAS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: HRAS
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: COSTELLO SYNDROME (OMIM:218040)
Gene: HRAS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HRAS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HRG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HRG
Phenotype: Adult onset (HP:0003581)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HRG
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HRG
Phenotype: Recurrent thromboembolism (HP:0004831)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HRG
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HRG
Phenotype: Decreased level of histidine-rich glycoprotein (HP:0040227)
Associated disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Gene: HSD3B2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Absent scrotum (HP:0008707)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Ambiguous genitalia, female (HP:0000061)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Decreased fertility in males (HP:0012041)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Increased circulating 17 hydroxypregnenolone concentration (HP:0033809)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Micropenis (HP:0000054)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Hypospadias (HP:0000047)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Hypospadias (HP:0000047)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Azoospermia (HP:0000027)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Hypotension (HP:0002615)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Vomiting (HP:0002013)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Congenital adrenal hyperplasia (HP:0008258)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD3B2
Phenotype: Adrenal hyperplasia (HP:0008221)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Congenital onset (HP:0003577)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)