TaoMedAI/RareMedData huggingface dataset:
Gene: MAP3K20
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K20
Phenotype: Weight loss (HP:0001824)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: MAP3K20
Phenotype: Split foot (HP:0001839)
Associated disease: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY (OMIM:616890)
Gene: MAP3K20
Phenotype: Split foot (HP:0001839)
Associated disease: Split-foot malformation-mesoaxial polydactyly syndrome; Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome; SFMMP (ORPHA:488232)
Gene: MAP3K20
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K20
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAP3K20
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MYOZ2
Phenotype: Syncope (HP:0001279)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Dyspnea (HP:0002094)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Left bundle branch block (HP:0011713)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Palpitations (HP:0001962)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Orthopnea (HP:0012764)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: MYOZ2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 (OMIM:613838)
Gene: KDM3B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Motor delay (HP:0001270)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Seizure (HP:0001250)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Hypospadias (HP:0000047)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Wide mouth (HP:0000154)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Gliosis (HP:0002171)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Low hanging columella (HP:0009765)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Short stature (HP:0004322)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Long ear (HP:0400004)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Heterotaxy (HP:0030853)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Breech presentation (HP:0001623)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Pointed chin (HP:0000307)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: KDM3B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DIETS-JONGMANS SYNDROME (OMIM:618846)
Gene: TUBA8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Seizure (HP:0001250)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Absent speech (HP:0001344)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT (OMIM:619840)
Gene: TUBA8
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT (OMIM:619840)
Gene: TUBA8
Phenotype: Colpocephaly (HP:0030048)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: TUBA8
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Gene: ADA2
Phenotype: Reduced circulating adenosine deaminase-2 activity (HP:6000562)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Visual field defect (HP:0001123)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Sporadic (HP:0003745)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Stroke (HP:0001297)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Stroke (HP:0001297)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Motor delay (HP:0001270)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Seizure (HP:0001250)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Seizure (HP:0001250)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Ataxia (HP:0001251)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Central retinal artery occlusion (HP:0025342)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Lupus anticoagulant (HP:0025343)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Arthritis (HP:0001369)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Livedo (HP:0033832)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Tremor (HP:0001337)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Tremor (HP:0001337)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Vasculitis (HP:0002633)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Oral ulcer (HP:0000155)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Nephropathy (HP:0000112)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Myalgia (HP:0003326)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Migraine (HP:0002076)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Chorea (HP:0002072)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Splinter hemorrhages (HP:6000139)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Esophageal varix (HP:0002040)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cutaneous necrosis (HP:0033126)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Amaurosis fugax (HP:0100576)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Libman-Sacks lesions (HP:0011714)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Livedo racemosa (HP:0033260)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Livedo racemosa (HP:0033260)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Livedo racemosa (HP:0033260)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Renal artery aneurysm (HP:0033261)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Chilblains (HP:0009710)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Facial palsy (HP:0010628)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Aphasia (HP:0002381)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Aphasia (HP:0002381)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Progressive (HP:0003676)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Vertigo (HP:0002321)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Headache (HP:0002315)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)