TaoMedAI/RareMedData huggingface dataset:
Gene: COL3A1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Acrogeria, Gottron type; Acrogeria; Gottron syndrome; Acrometageria (ORPHA:2500)
Gene: COL3A1
Phenotype: Narrow nasal bridge (HP:0000446)
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: Bilateral talipes equinovarus (HP:0001776)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Protruding ear (HP:0000411)
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: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Talipes equinovarus (HP:0001762)
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: Talipes equinovarus (HP:0001762)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Proptosis (HP:0000520)
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: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: COL3A1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Telecanthus (HP:0000506)
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: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Ptosis (HP:0000508)
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: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Glaucoma (HP:0000501)
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: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Blue sclerae (HP:0000592)
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: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Abnormal bleeding (HP:0001892)
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: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: COL3A1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Keratoconus (HP:0000563)
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: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL3A1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME (OMIM:618343)
Gene: COL3A1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Abnormal circle of Willis morphology (HP:0012518)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: COL3A1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: COL3A1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: COL3A1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: COL3A1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: COL4A1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Facial paralysis (HP:0007209)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Seizure (HP:0001250)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Spasticity (HP:0001257)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Lacunar stroke (HP:0032325)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HANAC syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (ORPHA:73229)
Gene: COL4A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Dystonia (HP:0001332)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Renal cyst (HP:0000107)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: HANAC syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (ORPHA:73229)
Gene: COL4A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Migraine (HP:0002076)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Migraine with aura (HP:0002077)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Babinski sign (HP:0003487)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Postural instability (HP:0002172)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Tetraparesis (HP:0002273)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Adult onset (HP:0003581)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Schizencephaly (HP:0010636)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: HANAC syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (ORPHA:73229)
Gene: COL4A1
Phenotype: Amblyopia (HP:0000646)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINAL ARTERIES, TORTUOSITY OF (OMIM:180000)
Gene: COL4A1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Blurred vision (HP:0000622)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Dementia (HP:0000726)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Hematuria (HP:0000790)
Associated disease: HANAC syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (ORPHA:73229)
Gene: COL4A1
Phenotype: Hematuria (HP:0000790)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: HANAC syndrome; Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome; Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome (ORPHA:73229)
Gene: COL4A1
Phenotype: Polycoria (HP:0011500)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT (OMIM:618564)
Gene: COL4A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS (OMIM:611773)
Gene: COL4A1
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: COL4A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES (OMIM:175780)
Gene: COL4A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)