TaoMedAI/RareMedData huggingface dataset:
Gene: SOX9
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SOX9
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SOX9
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SOX9
Phenotype: Small scrotum (HP:0000046)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Small scrotum (HP:0000046)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Small scrotum (HP:0000046)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SOX9
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Perineal hypospadias (HP:0000051)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Hypospadias (HP:0000047)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Abnormal male internal genitalia morphology (HP:0000022)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SOX9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Hypoplastic inferior ilia (HP:0008821)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Scoliosis (HP:0002650)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Glossoptosis (HP:0000162)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Cleft palate (HP:0000175)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Cleft palate (HP:0000175)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Cleft palate (HP:0000175)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; XX, male syndrome; 46,XX testicular difference of sex development (ORPHA:393)
Gene: SOX9
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: 46,XY CGD; 46,XY pure gonadal dysgenesis; 46,XY complete gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Gene: SOX9
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Tracheobronchomalacia (HP:0002786)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Pretibial dimple (HP:0032538)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Dysphagia (HP:0002015)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Apnea (HP:0002104)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Shortening of all phalanges of fingers (HP:0011910)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Congenital onset (HP:0003577)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: PRS; Isolated Pierre Robin sequence (ORPHA:718)
Gene: SOX9
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SOX9
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Contracture of the distal interphalangeal joint of the fingers (HP:0009697)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Hypoplasia of olfactory tract (HP:0007036)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Cervical spine instability (HP:0010646)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: 46,XX SEX REVERSAL 2 (OMIM:278850)
Gene: SOX9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Dysgerminoma (HP:0100621)
Associated disease: 46,XY SEX REVERSAL 10 (OMIM:616425)
Gene: SOX9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Poorly ossified cervical vertebrae (HP:0008477)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Poorly ossified cervical vertebrae (HP:0008477)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Skin dimple (HP:0010781)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Short stature (HP:0004322)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SOX9
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SOX9
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Short long bone (HP:0003026)
Associated disease: Campomelic dwarfism; Campomelic dysplasia (ORPHA:140)
Gene: SOX9
Phenotype: Short long bone (HP:0003026)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SOX9
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CAMPOMELIC DYSPLASIA (OMIM:114290)
Gene: SOX9
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)