TaoMedAI/RareMedData huggingface dataset:
Gene: CYP1B1
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Retinal arterial occlusion (HP:0025326)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: CYP1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Gene: CYP1B1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Gene: CYP1B1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Iridodonesis (HP:0100693)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Photophobia (HP:0000613)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Retinal vein occlusion (HP:0012636)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Central opacification of the cornea (HP:0011493)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Posterior synechiae of the anterior chamber (HP:0011484)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Anisometropia (HP:0012803)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Primary congenital glaucoma (HP:0008007)
Associated disease: GLAUCOMA 3, PRIMARY INFANTILE, B (OMIM:600975)
Gene: CYP1B1
Phenotype: Late onset congenital glaucoma (HP:0008041)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Gene: CYP1B1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Glaucomatous visual field defect (HP:0007854)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: High myopia (HP:0011003)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 6 (OMIM:617315)
Gene: CYP1B1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Gene: CYP1B1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Strabismus (HP:0000486)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Reduced anterior scleral thickness (HP:0025751)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: Peters congenital glaucoma; Peters anomaly (ORPHA:708)
Gene: CYP1B1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: GLAUCOMA 3, PRIMARY CONGENITAL, A (OMIM:231300)
Gene: CYP1B1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Visual loss (HP:0000572)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP1B1
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: CYP1B1
Phenotype: Myopia (HP:0000545)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: CYP2A6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CYP2A6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: CYP2A6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CYP2A6
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CYP2A6
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CYP2A6
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: CYP2A6
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: CYP2C9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: CYP2C9
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: COUMARIN RESISTANCE (OMIM:122700)
Gene: CYP2D6
Phenotype: Neoplasm (HP:0002664)
Associated disease: DRUG METABOLISM, POOR, CYP2D6-RELATED (OMIM:608902)
Gene: CYP2D6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DRUG METABOLISM, POOR, CYP2D6-RELATED (OMIM:608902)
Gene: CYP2D6
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: DRUG METABOLISM, POOR, CYP2D6-RELATED (OMIM:608902)
Gene: CYP3A4
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Decreased circulating calcifediol concentration (HP:0012053)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Childhood onset (HP:0011463)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Osteopenia (HP:0000938)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Growth delay (HP:0001510)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A4
Phenotype: Genu varum (HP:0002970)
Associated disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Gene: CYP3A5
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: CYP3A5
Phenotype: Elevated mean arterial pressure (HP:0004972)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: CYP3A5
Phenotype: Elevated systolic blood pressure (HP:0004421)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: CYP3A5
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Gene: CYP7A1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Cholestasis (HP:0001396)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Abnormal circulating vitamin E concentration (HP:0100514)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Abnormal circulating vitamin A concentration (HP:0008372)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Cholesterol gallstones (HP:0011980)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Obesity (HP:0001513)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Acute hepatic steatosis (HP:0006573)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP7A1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Gene: CYP11A1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hypotension (HP:0002615)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hypotension (HP:0002615)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Generalized bronze hyperpigmentation (HP:0007574)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Generalized bronze hyperpigmentation (HP:0007574)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Vomiting (HP:0002013)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Vomiting (HP:0002013)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Adrenocorticotropic hormone excess (HP:0011749)
Associated disease: ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE (OMIM:613743)
Gene: CYP11A1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)
Gene: CYP11A1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency (ORPHA:289548)
Gene: CYP11A1
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: XY sex reversal-adrenal failure; 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency; 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency (ORPHA:168558)