TaoMedAI/RareMedData huggingface dataset:
Gene: BGN
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: BGN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: BGN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BGN
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: BGN
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BGN
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BGN
Phenotype: Proptosis (HP:0000520)
Associated disease: MEESTER-LOEYS SYNDROME (OMIM:300989)
Gene: BGN
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: BGN
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BGN
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: BGN
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: BGN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BGN
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BGN
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BGN
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: BGN
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: BGN
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: BGN
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: BLK
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Gene: BLK
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Gene: BLK
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Young adult onset (HP:0011462)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Gene: BLK
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Overweight (HP:0025502)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Gene: BLK
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Obesity (HP:0001513)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Gene: BLK
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: BLK
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BLM
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Syndactyly (HP:0001159)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Cheilitis (HP:0100825)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Azoospermia (HP:0000027)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Azoospermia (HP:0000027)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Adipose tissue loss (HP:0008887)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Neoplasm (HP:0002664)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Malar rash (HP:0025300)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Lymphoma (HP:0002665)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Lymphoma (HP:0002665)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Stomach cancer (HP:0012126)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Recurrent infections (HP:0002719)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Pneumonia (HP:0002090)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Infantile onset (HP:0003593)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Congenital onset (HP:0003577)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Esophageal neoplasm (HP:0100751)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Poikiloderma (HP:0001029)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Facial erythema (HP:0001041)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Telangiectasia (HP:0001009)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Severe toxoplasmosis (HP:0020105)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Facial telangiectasia in butterfly midface distribution (HP:0005598)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Leukemia (HP:0001909)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Poor appetite (HP:0004396)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Male infertility (HP:0003251)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Neoplasm of the colon (HP:0100273)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Skin rash (HP:0000988)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Retrognathia (HP:0000278)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Narrow face (HP:0000275)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Narrow face (HP:0000275)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Malar flattening (HP:0000272)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Malar flattening (HP:0000272)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Abnormal CD8+ T cell proportion (HP:0031393)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Microcephaly (HP:0000252)
Associated disease: BLOOM SYNDROME (OMIM:210900)
Gene: BLM
Phenotype: Respiratory failure (HP:0002878)
Associated disease: BSyn; Bloom syndrome (ORPHA:125)
Gene: BLM
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: BLOOM SYNDROME (OMIM:210900)