| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 25 (4.0%) |
6437116 |
Trisomy 1q and loss of Y chromosome in a male with osteomyelosclerosis. Bauchinger M. Acta Haematol. 1984;72(2):131-4. |
| Hepatosplenomegaly | ||
| Chromosomes, Human, 1-3 Complications of Diabetes Mellitus Homo sapiens Male Middle Aged Osteomyelitis Osteosclerosis Sex Chromosome Aberrations Trisomy Y Chromosome | ||
| 25 (4.0%) |
3938161 |
Philadelphia-chromosome-negative chronic myelogenous leukemia with incomplete trisomy 1q following chemotherapy for ovarian carcinoma. Haubenstock A, Zalusky R, Kim HJ, Kabakow B, Perle MA, Malamud SC, Vizel-Schwartz M. Acta Haematol. 1985;74(3):168-70. |
| Ovarian carcinoma | ||
| Chromosomes, Human, 1-3 Females Homo sapiens Middle Aged Myeloid Leukemia Neoplasms, Multiple Primary Philadelphia Chromosome Trisomy | ||
| 25 (4.0%) |
3493393 |
Multiple chromosome abnormalities in a drug resistant TdT positive B-cell leukemia. Secker-Walker L, Stewart E, Norton J, Campana D, Thomas A, Hoffbrand V, Prentice G. Leuk Res. 1987;11(2):155-61. |
| Leukemia | ||
| DNTT ENDOU H3F3AP4 | ||
| Acute Disease B-Lymphocytes Chromosome Aberrations Chromosome Banding Homo sapiens Male | ||
| 25 (4.0%) |
3165700 |
Translocation t(8;16) in acute monocytic leukemia. Becher R, Haas OA, Graeven U, Bettelheim P, Ambros P, Fridrik M, Schaefer UW, Schmidt CG. Cancer Genet Cytogenet. 1988;34(2):265-71. |
| Leukemia | ||
| FANCB | ||
| Adult Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 8 Females Genetic Markers Homo sapiens Male Middle Aged | ||
| 25 (4.0%) |
3159953 |
Acute megakaryoblastic leukemia in Down's syndrome: report of a case and review of cytogenetic findings. Suarez CR, Le Beau MM, Silberman S, Fresco R, Rowley JD. Med Pediatr Oncol. 1985;13(4):225-31. |
| Leukemia | ||
| Acid Phosphatase Bone Marrow Chromosome Aberrations Chromosomes, Human, 1-3 Chromosomes, Human, 4-5 Down Syndrome Homo sapiens Infant Male Megakaryocytes Thrombocythemia, Essential | ||
| 25 (4.0%) |
2752371 |
Association of trisomy 8 and squamous differentiation in an endometrial adenocarcinoma. Fletcher JA, Aster JC, Morton CC. Cancer Genet Cytogenet. 1989;39(2):185-9. |
| Endometrial carcinoma | ||
| Adenocarcinoma Chromosomes, Human, Pair 8 Females Homo sapiens Trisomy Uterine Neoplasms | ||
| 25 (4.0%) |
2280601 |
Partial trisomy 1q in idiopathic myelofibrosis. Donti E, Tabilio A, Bocchini F, Falzetti F, Martelli MF, Grignani F, Donti GV. Leuk Res. 1990;14(11-12):1035-40. |
| Myelofibrosis | ||
| Chromosomes, Human, Pair 1 Females Homo sapiens Male Primary Myelofibrosis Trisomy | ||
| 25 (4.0%) |
2278964 |
Leukemia characterized by multiple sub-clones with unbalanced translocations involving different telomeric segments: case report and review of the literature. Shippey CA, Layton M, Secker-Walker LM. Genes Chromosomes Cancer. 1990;2(1):14-7. |
| Leukemia | ||
| Antigens, Neoplasm Biomarkers, Tumor Burkitt Lymphoma Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 4 Clone Cells Homo sapiens Male Neoplasm Proteins Neoplastic Stem Cells | ||
| 25 (4.0%) |
602927 |
Partial trisomy of the long arm of chromosome 1 in myelofibrosis and polycythemia vera. Hsu LY, Pinchiaroli D, Gilbert HS, Wittman R, Hirschhorn K. Am J Hematol. 1977;2(4):375-83. |
| Hepatosplenomegaly | ||
| Chromosomes, Human, 1-3 Females Homo sapiens Male Middle Aged Polycythemia Vera Primary Myelofibrosis Trisomy | ||
| 25 (4.0%) |
304704 |
Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation. Zuffardi O, Tiepolo L, Scappaticci S, Francesconi D, Bianchi C, di Natale D. Ann Genet. 1977;20(3):191-94. |
| Psychomotor retardation | ||
| Child Child, Preschool Chromosomes, Human, 1-3 Females Homo sapiens Infant Trisomy X Chromosome |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000445 | Wide nose | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0000003 | Multicystic kidney dysplasia | Frequent (79-30%) |
| HP:0000160 | Narrow mouth | Frequent (79-30%) |
| HP:0000308 | Microretrognathia | Frequent (79-30%) |
| HP:0000476 | Cystic hygroma | Frequent (79-30%) |
| HP:0000528 | Anophthalmia | Frequent (79-30%) |
| HP:0001166 | Arachnodactyly | Frequent (79-30%) |
| HP:0001561 | Polyhydramnios | Frequent (79-30%) |
| HP:0001833 | Long foot | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002119 | Ventriculomegaly | Frequent (79-30%) |
| HP:0010880 | Increased nuchal translucency | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000046 | Scrotal hypoplasia | Occasional (29-5%) |
| HP:0000062 | Ambiguous genitalia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000356 | Abnormality of the outer ear | Occasional (29-5%) |
| HP:0000494 | Downslanted palpebral fissures | Occasional (29-5%) |
| HP:0000601 | Hypotelorism | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001770 | Toe syndactyly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001800 | Hypoplastic toenails | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
| HP:0008386 | Aplasia/Hypoplasia of the nails | Occasional (29-5%) |
| HP:0008676 | Congenital megaureter | Occasional (29-5%) |
| HP:0010306 | Short thorax | Occasional (29-5%) |
Total: 13
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 4 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000879 | Short sternum | 1 |
| HP:0001371 | Flexion contracture | 1 |
| HP:0002119 | Ventriculomegaly | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0025318 | Ovarian carcinoma | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|