TaoMedAI/RareMedData huggingface dataset:
Gene: SRY
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: SRY
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
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: SRY
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
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: SRY
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
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: SRY
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Short metatarsal (HP:0010743)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Nystagmus (HP:0000639)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Short stature (HP:0004322)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
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: SRY
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Abnormal scrotal rugation (HP:0012856)
Associated disease: 46,XX ovotesticular disorder of sex development; 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD (ORPHA:2138)
Gene: SRY
Phenotype: Ovotestis (HP:0012861)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Ovotestis (HP:0012861)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
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: SRY
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
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: SRY
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Ovarian serous cystadenoma (HP:0012887)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Male infertility (HP:0003251)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
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: SRY
Phenotype: Epicanthus (HP:0000286)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SRY
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 1 (OMIM:400044)
Gene: SRY
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XX SEX REVERSAL 1 (OMIM:400045)
Gene: SRY
Phenotype: Cervix cancer (HP:0030079)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: High palate (HP:0000218)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Obesity (HP:0001513)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Micrognathia (HP:0000347)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Tachycardia (HP:0001649)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Webbed neck (HP:0000465)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Hallux valgus (HP:0001822)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SRY
Phenotype: Visual impairment (HP:0000505)
Associated disease: 45,X/46,XY mixed gonadal dysgenesis; 45,X0/46,XY mixed gonadal dysgenesis; 45,X/46,XY MGD; 45,X0/46,XY MGD (ORPHA:1772)
Gene: SSBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSBP1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES (OMIM:165510)
Gene: SSR4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Joint dislocation (HP:0001373)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Hypospadias (HP:0000047)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Wide mouth (HP:0000154)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Vomiting (HP:0002013)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Abnormality of upper lip vermillion (HP:0011339)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Gene: SSR4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)
Gene: SSR4
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Congenital disorder of glycosylation type 1y; SSR4-CDG; CDG1Y; CDG syndrome type Iy; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type Iy; CDG-Iy (ORPHA:370927)