TaoMedAI/RareMedData huggingface dataset:
Gene: XYLT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Acne (HP:0001061)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Hirsutism (HP:0001007)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Small hand (HP:0200055)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Accelerated atherosclerosis (HP:0004943)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Synophrys (HP:0000664)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Short stature (HP:0004322)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Short long bone (HP:0003026)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Intermittent claudication (HP:0004417)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Short nose (HP:0003196)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Broad ribs (HP:0000885)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hypertension (HP:0000822)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Biconcave vertebral bodies (HP:0004586)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: White oral mucosal macule (HP:0033026)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Retinal peau d'orange (HP:0033027)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Osteopenia (HP:0000938)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Absent anterior chamber of the eye (HP:0008037)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Coxa vara (HP:0002812)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Yellow papule (HP:0025507)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Growth delay (HP:0001510)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Flat face (HP:0012368)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Congenital blindness (HP:0007875)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Retinal calcification (HP:0007862)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: XYLT1-CDG (ORPHA:370930)