TaoMedAI/RareMedData huggingface dataset:
Gene: ADA2
Phenotype: Headache (HP:0002315)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Headache (HP:0002315)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Atrophic scars (HP:0001075)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Radial artery aplasia (HP:0020118)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Absent thumb (HP:0009777)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Short thumb (HP:0009778)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Hemiplegia (HP:0002301)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Central retinal vein occlusion (HP:0020166)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Macrocytic dyserythropoietic anemia (HP:0005532)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Suicide behaviors (HP:5200330)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Fever (HP:0001945)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Anemia (HP:0001903)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Depression (HP:0000716)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Agitation (HP:0000713)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Dementia (HP:0000726)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Childhood onset (HP:0011463)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Internuclear ophthalmoplegia (HP:0030773)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Hypertension (HP:0000822)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Hypertension (HP:0000822)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Hypertension (HP:0000822)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Purpura (HP:0000979)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Skin rash (HP:0000988)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Arthralgia (HP:0002829)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Abnormality of the head (HP:0000234)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: High palate (HP:0000218)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Stiff skin (HP:0030053)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Growth delay (HP:0001510)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Panniculitis (HP:0012490)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Cerebral infarct (HP:0025722)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Elevated red cell adenosine deaminase activity (HP:0030270)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Pure red cell aplasia (HP:0012410)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Gene: ADA2
Phenotype: Malignant genitourinary tract tumor (HP:0006758)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Ptosis (HP:0000508)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Urticarial plaque (HP:0030351)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SNEDDON SYNDROME (OMIM:182410)
Gene: ADA2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: ADA2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Gene: ADA2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: BCL11A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Limb ataxia (HP:0002070)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Anterior concavity of thoracic vertebrae (HP:0004611)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Gene: BCL11A
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: BCL11A
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)