TaoMedAI/RareMedData huggingface dataset:
Gene: COL1A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Thickened cortex of the radius (HP:6000811)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Thickened cortex of the ulna (HP:6000812)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Popcorn calcification (HP:6000871)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Popcorn calcification (HP:6000871)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Femoral bowing present at birth, straightening with time (HP:0005005)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Phalangeal dislocation (HP:0006243)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Thickened cortex of the clavicle (HP:6000936)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Thickened cortex of the mandible (HP:6000937)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Nausea (HP:0002018)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Vomiting (HP:0002013)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Biconcave flattened vertebrae (HP:0003321)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Biconcave flattened vertebrae (HP:0003321)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Echolalia (HP:0010529)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
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: COL1A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Mild short stature (HP:0003502)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Aphasia (HP:0002381)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Subcutaneous spheroids (HP:0025014)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Striae distensae (HP:0001065)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Headache (HP:0002315)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Abnormality of subcutaneous fat tissue (HP:0001001)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Cellulitis (HP:0100658)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Erythema (HP:0010783)
Associated disease: Dermatofibrosarcoma protuberans; DFSP (ORPHA:31112)
Gene: COL1A1
Phenotype: Joint subluxation (HP:0032153)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Abnormality of the temporomandibular joint (HP:0010754)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Scarring (HP:0100699)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Limb pain (HP:0009763)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Mutism (HP:0002300)
Associated disease: Ehlers-Danlos syndrome, arthrochalasia type; Arthrochalasia EDS; Ehlers-Danlos syndrome type 7; aEDS; Arthrochalasis multiplex congenita; EDS VII; Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
Gene: COL1A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Recurrent joint dislocation (HP:0031869)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Vertebra plana (HP:6001053)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Fever (HP:0001945)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Fever (HP:0001945)
Associated disease: CAFFEY DISEASE (OMIM:114000)
Gene: COL1A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Short stature (HP:0004322)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Absent ossification of calvaria (HP:0005623)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Broad long bones (HP:0005622)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Gene: COL1A1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 (OMIM:130060)
Gene: COL1A1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL1A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: COL1A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: cEDS; Classical Ehlers-Danlos syndrome; Classical EDS (ORPHA:287)
Gene: COL1A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Bowing of limbs due to multiple fractures (HP:0003023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Bowing of limbs due to multiple fractures (HP:0003023)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Gene: COL1A1
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE I (OMIM:166200)
Gene: COL1A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1 (OMIM:619115)
Gene: COL1A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL1A1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: COL1A1
Phenotype: Slender long bone (HP:0003100)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Basilar impression (HP:0005758)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Gene: COL1A1
Phenotype: Cortical irregularity (HP:0005731)
Associated disease: Caffey disease; Infantile cortical hyperostosis (ORPHA:1310)
Gene: COL1A1
Phenotype: Cortical irregularity (HP:0005731)
Associated disease: CAFFEY DISEASE (OMIM:114000)