TaoMedAI/RareMedData huggingface dataset:
Gene: STRA6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Hypoplastic left atrium (HP:0005156)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Low-set ears (HP:0000369)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Agenesis of pulmonary vessels (HP:0005311)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Annular pancreas (HP:0001734)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Single ventricle (HP:0001750)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: STRA6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Gene: STRA6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome; PDAC syndrome; Anophthalmia-pulmonary hypoplasia syndrome; Matthew-Wood syndrome (ORPHA:2470)
Gene: ROBO3
Phenotype: Duane anomaly (HP:0009921)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Seizure (HP:0001250)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Progressive ophthalmoplegia (HP:0007650)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Infantile onset (HP:0003593)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Congenital onset (HP:0003577)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Nystagmus (HP:0000639)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Myopathy (HP:0003198)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Hyperopic astigmatism (HP:0000484)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Strabismus (HP:0000486)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Torticollis (HP:0000473)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ROBO3
Phenotype: Short neck (HP:0000470)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Progressive external ophthalmoplegia and scoliosis; Horizontal gaze palsy with progressive scoliosis; HGPPS (ORPHA:2744)
Gene: ROBO3
Phenotype: Esotropia (HP:0000565)
Associated disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Gene: ABCG5
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: SITOSTEROLEMIA 2 (OMIM:618666)
Gene: ABCG5
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SITOSTEROLEMIA 2 (OMIM:618666)
Gene: ABCG5
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Elevated circulating sitosterol concentration (HP:0033341)
Associated disease: SITOSTEROLEMIA 2 (OMIM:618666)
Gene: ABCG5
Phenotype: Elevated circulating sitosterol concentration (HP:0033341)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Giant platelets (HP:0001902)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SITOSTEROLEMIA 2 (OMIM:618666)
Gene: ABCG5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Arthralgia (HP:0002829)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Arthralgia/arthritis (HP:0005059)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: SITOSTEROLEMIA 2 (OMIM:618666)
Gene: ABCG5
Phenotype: Premature coronary artery atherosclerosis (HP:0005181)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Angina pectoris (HP:0001681)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Heart murmur (HP:0030148)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Myocardial steatosis (HP:0006693)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG5
Phenotype: Abnormal internal carotid artery morphology (HP:3000062)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG5
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Xanthelasma (HP:0001114)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Tendon xanthomatosis (HP:0010874)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: GALLBLADDER DISEASE 4 (OMIM:611465)
Gene: ABCG8
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Arthritis (HP:0001369)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Tuberous xanthoma (HP:0031290)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Abdominal pain (HP:0002027)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Dyspnea (HP:0002094)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Hyperapobetalipoproteinemia (HP:0008158)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Adult onset (HP:0003581)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Impaired platelet aggregation (HP:0003540)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Elevated circulating sitosterol concentration (HP:0033341)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Elevated circulating sitosterol concentration (HP:0033341)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Episodic hemolytic anemia (HP:0004802)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Corneal arcus (HP:0001084)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GALLBLADDER DISEASE 4 (OMIM:611465)
Gene: ABCG8
Phenotype: Calcification of the aorta (HP:0004963)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Anemia (HP:0001903)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Giant platelets (HP:0001902)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Giant platelets (HP:0001902)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Abnormal nervous system physiology (HP:0012638)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Renal steatosis (HP:0000799)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Precocious atherosclerosis (HP:0004416)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Hypertension (HP:0000822)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Coronary artery aneurysm (HP:0030882)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Abnormal tendon morphology (HP:0100261)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Arthralgia (HP:0002829)
Associated disease: SITOSTEROLEMIA 1 (OMIM:210250)
Gene: ABCG8
Phenotype: Arthralgia (HP:0002829)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Arthralgia (HP:0002829)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Arthralgia/arthritis (HP:0005059)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Aortic atherosclerotic lesion (HP:0012397)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Abnormal eye physiology (HP:0012373)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)
Gene: ABCG8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Phytosterolemia; Sitosterolemia (ORPHA:2882)
Gene: ABCG8
Phenotype: Premature arteriosclerosis (HP:0005177)
Associated disease: HoFH; Homozygous familial hypercholesterolemia (ORPHA:391665)