TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF687
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: PAGET DISEASE OF BONE 6 (OMIM:616833)
Gene: WDR48
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: WDR48
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Gene: DIP2B
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Erythroderma (HP:0001019)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: DIP2B
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: MENTAL RETARDATION, FRA12A TYPE (OMIM:136630)
Gene: SHROOM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SHROOM3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SHROOM3
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SHROOM3
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SHROOM3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SHROOM3
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFAT
Phenotype: Thyroiditis (HP:0100646)
Associated disease: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608175)
Gene: CCDC146
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Short sperm flagella (HP:0032559)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Young adult onset (HP:0011462)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Oligozoospermia (HP:0000798)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Male infertility (HP:0003251)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Multiflagellar spermatozoa (HP:0034309)
Associated disease:  (OMIM:620850)
Gene: CCDC146
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease:  (OMIM:620850)
Gene: DHX37
Phenotype: Agonadism (HP:0008633)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
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: DHX37
Phenotype: Gonadal dysgenesis with female appearance, male (HP:0008723)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
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: DHX37
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
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: DHX37
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Abnormal male internal genitalia morphology (HP:0000022)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
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: DHX37
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
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: DHX37
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Absent testis (HP:0010469)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Aplasia/Hypoplasia of the testes (HP:0010468)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
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: DHX37
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
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: DHX37
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Blindness (HP:0000618)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
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: DHX37
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Cervical platyspondyly (HP:0004558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY SEX REVERSAL 11 (OMIM:273250)
Gene: DHX37
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Vanishing testes syndrome; TRS; XY gonadal agenesis syndrome; Embryonic testicular regression syndrome; Testicular regression syndrome; ETRS; Vanishing testis syndrome (ORPHA:983)
Gene: DHX37
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: DHX37
Phenotype: Macrodontia (HP:0001572)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Small nail (HP:0001792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Broad neck (HP:0000475)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: DHX37
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES (OMIM:618731)
Gene: UVSSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Freckling (HP:0001480)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Infantile onset (HP:0003593)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Telangiectasia (HP:0001009)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Increased cellular sensitivity to UV light (HP:0003224)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: UVSSA
Phenotype: Dry skin (HP:0000958)
Associated disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Gene: KIAA1549
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Hyperautofluorescent retinal lesion (HP:0025158)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)