TaoMedAI/RareMedData huggingface dataset:
Gene: HSD3B2
Phenotype: Hirsutism (HP:0001007)
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: Dehydration (HP:0001944)
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: Neonatal hypoglycemia (HP:0001998)
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 aldosterone concentration (HP:0004319)
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: Penoscrotal hypospadias (HP:0000808)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Penoscrotal hypospadias (HP:0000808)
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: Gynecomastia (HP:0000771)
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: Neonatal asphyxia (HP:0012768)
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: Scrotal hypospadias (HP:0012853)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Increased circulating renin concentration (HP:0000848)
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 insufficiency (HP:0000846)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Abnormal labia majora morphology (HP:0012881)
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: Hyperpigmentation of the skin (HP:0000953)
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 serum testosterone concentration (HP:0040171)
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 serum testosterone level (HP:0030088)
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: Failure to thrive (HP:0001508)
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: Hyponatremia (HP:0002902)
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: Hyponatremia (HP:0002902)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Microphallus (HP:0030260)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY (OMIM:201810)
Gene: HSD3B2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (ORPHA:90791)
Gene: HSD11B1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio (HP:6000185)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio (HP:6001080)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Obesity (HP:0001513)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B1
Phenotype: Premature pubarche (HP:0012411)
Associated disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Gene: HSD11B2
Phenotype: Stroke (HP:0001297)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Decreased circulating renin concentration (HP:0003351)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Abnormality of circulating cortisol level (HP:0011731)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Abnormal urine sodium concentration (HP:0012603)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Short stature (HP:0004322)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Short stature (HP:0004322)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Childhood onset (HP:0011463)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Hypertension (HP:0000822)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Hypertension (HP:0000822)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Growth delay (HP:0001510)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Gene: HSD11B2
Phenotype: Hypokalemia (HP:0002900)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD11B2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Gene: HSD17B3
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Increased circulating androstenedione concentration (HP:0025380)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Hypospadias (HP:0000047)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Infertility (HP:0000789)
Associated disease: 17-ketoreductase deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketosteroidreductase deficiency; 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (ORPHA:752)
Gene: HSD17B3
Phenotype: Infertility (HP:0000789)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY (OMIM:264300)
Gene: HSD17B4
Phenotype: Split hand (HP:0001171)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Motor delay (HP:0001270)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Areflexia (HP:0001284)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Seizure (HP:0001250)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hypotonia (HP:0001252)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Ataxia (HP:0001251)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Dysarthria (HP:0001260)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cholestasis (HP:0001396)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Scoliosis (HP:0002650)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Renal cyst (HP:0000107)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Intention tremor (HP:0002080)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Gliosis (HP:0002171)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Nystagmus (HP:0000639)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Nystagmus (HP:0000639)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Short stature (HP:0004322)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Osteopenia (HP:0000938)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Motor regression (HP:0033044)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Epicanthus (HP:0000286)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Retrognathia (HP:0000278)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Large fontanelles (HP:0000239)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: High palate (HP:0000218)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: High palate (HP:0000218)
Associated disease: PERRAULT SYNDROME 1 (OMIM:233400)
Gene: HSD17B4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Gene: HSD17B4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)