TaoMedAI/RareMedData huggingface dataset:
Gene: COL3A1
Phenotype: Narrow palate (HP:0000189)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Carotid artery dissection (HP:0012158)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hemothorax (HP:0012151)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Calf muscle hypoplasia (HP:0008962)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Emphysema (HP:0002097)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Emphysema (HP:0002097)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Migraine (HP:0002076)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Microspherophakia (HP:0030961)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Medial rotation of the medial malleolus (HP:0008132)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Uterine rupture (HP:0100718)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Fine hair (HP:0002213)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Incisional hernia (HP:0004872)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Peripheral arteriovenous fistula (HP:0100784)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Dural ectasia (HP:0100775)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Chest pain (HP:0100749)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Knee contracture (HP:0034671)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Arterial rupture (HP:0025019)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Striae distensae (HP:0001065)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Soft, doughy skin (HP:0001027)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Vertigo (HP:0002321)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Cystocele (HP:0100645)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Cystocele (HP:0100645)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Cigarette-paper scars (HP:0001073)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Small hand (HP:0200055)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Congenital kyphoscoliosis (HP:0008453)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: C1-C2 vertebral abnormality (HP:0008440)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Generalized arterial tortuosity (HP:0004955)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Pulmonary artery aneurysm (HP:0004937)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Arteriovenous fistula (HP:0004947)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Pulmonary artery dilatation (HP:0004927)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Anemia (HP:0001903)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Microdontia (HP:0000691)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Short stature (HP:0004322)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Short stature (HP:0004322)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Short stature (HP:0004322)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Hypermobility of interphalangeal joints (HP:0005620)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Limited knee extension (HP:0003066)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Macule (HP:0012733)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Periodontitis (HP:0000704)
Associated disease: Ehlers-Danlos syndrome type 4; Arterial-ecchymotic EDS; Vascular EDS; vEDS; EDS IV; Sack-Barabas syndrome; Vascular Ehlers-Danlos syndrome (ORPHA:286)
Gene: COL3A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Increased upper to lower segment ratio (HP:0012774)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Reduced upper to lower segment ratio (HP:0012773)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)