TaoMedAI/RareMedData huggingface dataset:
Gene: NR5A1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
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: NR5A1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Retractile testis (HP:0012646)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
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: NR5A1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 8 (OMIM:613957)
Gene: NR5A1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
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: NR5A1
Phenotype: Ovotestis (HP:0012861)
Associated disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Gene: NR5A1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Gene: NR5A1
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
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: NR5A1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
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: NR5A1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: NR5A1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
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: NR5A1
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: NR5A1
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Gene: NR5A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: NR5A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: FUCA1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Seizure (HP:0001250)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Seizure (HP:0001250)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Spasticity (HP:0001257)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Glycopeptiduria (HP:0012067)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Dystonia (HP:0001332)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Coxa valga (HP:0002673)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Macroglossia (HP:0000158)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Anterior beaking of thoracic vertebrae (HP:0004630)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Spastic gait (HP:0002064)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Infantile onset (HP:0003593)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hernia (HP:0100790)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Developmental regression (HP:0002376)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Angiokeratoma (HP:0001014)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Anterior beaking of lumbar vertebrae (HP:0008430)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Absent/hypoplastic coccyx (HP:0008436)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Reduced circulating alpha-L-fucosidase activity (HP:0034727)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Short stature (HP:0004322)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Shield chest (HP:0000914)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Cervical platyspondyly (HP:0004558)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Dry skin (HP:0000958)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Petechiae (HP:0000967)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Abnormality of skull size (HP:0000240)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)
Gene: FUCA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FUCOSIDOSIS (OMIM:230000)
Gene: FUCA1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUCA1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUCA1
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Fucosidosis; Alpha-L-fucosidase deficiency (ORPHA:349)