| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 139 (5.0%) |
8610414 |
Lack of evidence of permanent engraftment after in utero fetal stem cell transplantation in congenital hemoglobinopathies. Westgren M, Ringden O, Eik-Nes S, Ek S, Anvret M, Brubakk AM, Bui TH, Giambona A, Kiserud T, Kjaeldgaard A, Maggio A, Markling L, Seiger A, Orlandi F. Transplantation. 1996;61(8):1176-9. |
| Aspiration | ||
| Adult Anemia, Sickle Cell Females Fetal Tissue Transplantation Graft Survival Homo sapiens Pregnancy alpha-Thalassemia beta Thalassemia | ||
| 139 (5.0%) |
7726227 |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. McPherson EW, Clemens MM, Gibbons RJ, Higgs DR. Am J Med Genet. 1995;55(3):302-6. |
| Ambiguous genitalia | ||
| ATR HBA1 | ||
| Child, Preschool Disorders of Sex Development Face Females Hemoglobin H Heterozygote Homo sapiens Intellectual Disability Male Middle Aged X Chromosome alpha-Thalassemia | ||
| 139 (5.0%) |
7726225 |
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al.. Am J Med Genet. 1995;55(3):288-99. |
| Psychomotor retardation | ||
| HBA1 | ||
| Child Child, Preschool Females Hemoglobin H Heterozygote Homo sapiens Infant Intellectual Disability Male Phenotype Syndrome X Chromosome alpha-Thalassemia | ||
| 139 (5.0%) |
7726224 |
Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome. Reardon W, Gibbons RJ, Winter RM, Baraitser M. Am J Med Genet. 1995;55(3):285-7. |
| Male pseudohermaphroditism | ||
| ATR | ||
| Disorders of Sex Development Genotype Homo sapiens Infant, Newborn Intellectual Disability Male Phenotype Syndrome X Chromosome alpha-Thalassemia | ||
| 139 (5.0%) |
7246538 |
Priapism in a non-black with sickle cell anemia associated with alpha-thalassemia. Fich A, Rachmilewitz EA. Am J Hematol. 1981;10(3):313-5. |
| Priapism | ||
| Adult Anemia, Sickle Cell Blood Transfusion Ethnicity Homo sapiens Israel Male Priapism Thalassemia | ||
| 139 (5.0%) |
3314519 |
Theca-lutein ovarian cysts associated with homozygous alpha-thalassemia. Miller PD, Smith BC, Marinoff DN. Am J Obstet Gynecol. 1987;157(4 Pt 1):912-4. |
| Ovarian cyst | ||
| Adult Edema Females Fetal Diseases Homo sapiens Homozygote Ovarian Cysts Ovary Polyhydramnios Pregnancy Pregnancy Complications Pregnancy Trimester, Third Thalassemia | ||
| 139 (5.0%) |
2339705 |
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Wilkie AO, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. Am J Hum Genet. 1990;46(6):1127-40. |
| Microcephaly | ||
| Animals Child Child, Preschool Chromosome Mapping Females Gene Expression Regulation Genes Globin Homo sapiens Hybrid Cells Infant Intellectual Disability Male Mutation Syndrome Thalassemia | ||
| 139 (5.0%) |
2283018 |
[Alpha-thalassemia as a rare differential diagnosis of hydrops fetalis et placentae]. Luttkus A, Kattner E, Griese EU. Geburtshilfe Frauenheilkd. 1990;50(11):896-8. |
| Caesarian section | ||
| Adult Differential Diagnosis Females Genetic Carrier Screening Homo sapiens Homozygote Hydrops Fetalis Infant, Newborn Male Pregnancy Pregnancy Complications, Hematologic Thalassemia |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0011902 | Abnormal hemoglobin | Very frequent (99-80%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001878 | Hemolytic anemia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0001971 | Hypersplenism | Occasional (29-5%) |
| HP:0002863 | Myelodysplasia | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 16 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001935 | Microcytic anemia | 3 |
| HP:0005507 | Hemoglobin Barts | 3 |
| HP:0032231 | Hypochromia | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001931 | Hypochromic anemia | 2 |
| HP:0011902 | Abnormal hemoglobin | 2 |
| HP:0000037 | Male pseudohermaphroditism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001980 | Megaloblastic bone marrow | 1 |
| HP:0001994 | Renal Fanconi syndrome | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030431 | Osteochondroma | 1 |
| HP:0100242 | Sarcoma | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|