| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.1%) |
8691571 |
[Philadelphia chromosome-negative chronic myelogenous leukemia with trisomy 13]. Saigo K, Nakagawa T, Ryo R, Yamaguchi N. Rinsho Ketsueki. 1995;36(11):1295-9. |
| Splenomegaly Leukocytosis | ||
| Chromosomes, Human, Pair 13 Homo sapiens Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Nega... Male Trisomy | ||
| 2 (31.4%) |
9236512 |
Induction of a hematological and cytogenetic remission in a patient with a myelodysplastic syndrome secondary to Fanconi's anemia employing the S-HAM regimen. Verbeek W, Haase D, Schoch C, Hiddemann W, Wormann B. Ann Hematol. 1997;74(6):275-7. |
| Pancytopenia Anemia Granulocytopenia | ||
| CSF3 TRP-AGG2-5 | ||
| Adult Antineoplastic Combined Chemotherapy Protocols Chromosome Aberrations Fanconi Anemia Females Homo sapiens Remission Induction | ||
| 3 (29.4%) |
1837448 |
[Acute megakaryoblastic leukemia. Relation to trisomy 21]. Levaltier X, Reman O, Boutard P, Mandard JC, Troussard X, Leporrier M. Arch Fr Pediatr. 1991;48(8):563-6. |
| Hepatomegaly Portal fibrosis | ||
| Acute Megakaryocytic Leukemias Antineoplastic Combined Chemotherapy Protocols Chromosome Aberrations Down Syndrome Females Hepatomegaly Homo sapiens Infant | ||
| 4 (27.5%) |
10779034 |
Wilms tumor in a child with trisomy 13. Sweeney H, Pelegano J. J Pediatr Hematol Oncol. 2000;22(2):171-2. |
| Horseshoe kidney Hematuria Abdominal mass | ||
| Child, Preschool Chromosomes, Human, Pair 13 Fatal Outcome Homo sapiens Male Nephroblastoma Trisomy | ||
| 5 (27.2%) |
3750013 |
Automated leukocyte differentials in trisomy 13. Bradley RA, Newsome JL, Krauss JS, Hahn DA, Baisden CR. South Med J. 1986;79(9):1187. |
| Anemia | ||
| Adult Chromosomes, Human, 13-15 Females Homo sapiens Infant Trisomy | ||
| 6 (26.1%) |
28843273 (5572307) |
Fusion anomaly of the pancreatic tail and spleen: a case report. Omeri AK, Matsumoto S, Kiyonaga M, Takaji R, Yamada Y, Ando Y, Mori H, Uchida H, Iwashita Y, Ohta M, Inomata M. J Med Case Rep. 2017;11(1):238. |
| Cirrhosis Splenopancreatic fusion | ||
| COX8A | ||
| Aged, 80 and over Homo sapiens Magnetic Resonance Imaging Male Multidetector Computed Tomography Pancreas Spleen | ||
| 7 (25.2%) |
26673438 |
Norwood Procedure Performed on a Patient With Trisomy 13. Oka N, Inoue T, Shibata M, Yoshii T, Nakamura Y, Araki H, Matsunaga Y, Tamura T, Itatani K, Horai T, Kitamura T, Torii S, Miyaji K. Int Heart J. 2016;57(1):121-2. |
| Asplenia | ||
| Chromosomes, Human, Pair 13 Echocardiography Females Homo sapiens Infant, Newborn Norwood Procedures Trisomy Trisomy 13 Syndrome | ||
| 7 (25.2%) |
23791929 |
Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center. Swatek J, Szumilo J, Burdan F. Reprod Toxicol. 2013;41:80-5. |
| Accessory spleen | ||
| Academic Medical Centers Autopsy Females Holoprosencephaly Homo sapiens Incidence Infant, Newborn Male | ||
| 7 (25.2%) |
22532185 |
Intrapancreatic accessory spleen. Szumilo J, Fronczek A, Bukharin S, Burdan F. Folia Morphol (Warsz). 2012;71(1):45-7. |
| Accessory spleen | ||
| Ectopic Tissue Females Homo sapiens Male Pancreas Pregnancy Spleen Stillbirth | ||
| 7 (25.2%) |
18398855 |
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Am J Med Genet A. 2008;146A(10):1299-306. |
| Hydronephrosis Splenopancreatic fusion | ||
| rs1178340807 rs1178702025 rs1555706391 rs199810775 rs267607040 | ||
| Adult Autopsy Bone and Bones Craniofacial Abnormalities Females Homo sapiens Hydronephrosis Infant, Newborn Male Pancreas Spleen Syndrome |
Total: 59
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000161 | Median cleft lip | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000476 | Cystic hygroma | Very frequent (99-80%) |
| HP:0000528 | Anophthalmia | Very frequent (99-80%) |
| HP:0000568 | Microphthalmia | Very frequent (99-80%) |
| HP:0000601 | Hypotelorism | Very frequent (99-80%) |
| HP:0001162 | Postaxial hand polydactyly | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001629 | Ventricular septal defect | Very frequent (99-80%) |
| HP:0001631 | Atrial septal defect | Very frequent (99-80%) |
| HP:0001643 | Patent ductus arteriosus | Very frequent (99-80%) |
| HP:0001789 | Hydrops fetalis | Very frequent (99-80%) |
| HP:0002167 | Neurological speech impairment | Very frequent (99-80%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Very frequent (99-80%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Very frequent (99-80%) |
| HP:0007598 | Bilateral single transverse palmar creases | Very frequent (99-80%) |
| HP:0010864 | Intellectual disability, severe | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0100543 | Cognitive impairment | Very frequent (99-80%) |
| HP:0000008 | Abnormality of female internal genitalia | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000069 | Abnormality of the ureter | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000164 | Abnormality of the dentition | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000370 | Abnormality of the middle ear | Frequent (79-30%) |
| HP:0000384 | Preauricular skin tag | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Frequent (79-30%) |
| HP:0000478 | Abnormality of the eye | Frequent (79-30%) |
| HP:0000490 | Deeply set eye | Frequent (79-30%) |
| HP:0000499 | Abnormal eyelash morphology | Frequent (79-30%) |
| HP:0000504 | Abnormality of vision | Frequent (79-30%) |
| HP:0000518 | Cataract | Frequent (79-30%) |
| HP:0000612 | Iris coloboma | Frequent (79-30%) |
| HP:0000648 | Optic atrophy | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001362 | Calvarial skull defect | Frequent (79-30%) |
| HP:0002101 | Abnormal lung lobation | Frequent (79-30%) |
| HP:0002308 | Arnold-Chiari malformation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002705 | High, narrow palate | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0004467 | Preauricular pit | Frequent (79-30%) |
| HP:0005306 | Capillary hemangioma | Frequent (79-30%) |
| HP:0005562 | Multiple renal cysts | Frequent (79-30%) |
| HP:0007477 | Abnormal dermatoglyphics | Frequent (79-30%) |
| HP:0008046 | Abnormal retinal vascular morphology | Frequent (79-30%) |
| HP:0008053 | Aplasia/Hypoplasia of the iris | Frequent (79-30%) |
| HP:0009738 | Abnormality of the antihelix | Frequent (79-30%) |
| HP:0011039 | Abnormality of the helix | Frequent (79-30%) |
| HP:0100257 | Ectrodactyly | Frequent (79-30%) |
| HP:0100627 | Displacement of the urethral meatus | Frequent (79-30%) |
| HP:0100790 | Hernia | Frequent (79-30%) |
Total: 89
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001909 | Leukemia | 5 |
| HP:0002488 | Acute leukemia | 5 |
| HP:0010442 | Polydactyly | 5 |
| HP:0000252 | Microcephaly | 4 |
| HP:0100259 | Postaxial polydactyly | 4 |
| HP:0007973 | Retinal dysplasia | 3 |
| HP:0009792 | Teratoma | 3 |
| HP:0009914 | Cyclopia | 3 |
| HP:0012806 | Proboscis | 3 |
| HP:0032075 | Splenopancreatic fusion | 3 |
| HP:0410030 | Cleft lip | 3 |
| HP:0000238 | Hydrocephalus | 2 |
| HP:0000243 | Trigonocephaly | 2 |
| HP:0000369 | Low-set ears | 2 |
| HP:0000476 | Cystic hygroma | 2 |
| HP:0000518 | Cataract | 2 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0000568 | Microphthalmia | 2 |
| HP:0001028 | Hemangioma | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001629 | Ventricular septal defect | 2 |
| HP:0001838 | Rocker bottom foot | 2 |
| HP:0002580 | Volvulus | 2 |
| HP:0002650 | Scoliosis | 2 |
| HP:0010880 | Increased nuchal translucency | 2 |
| HP:0011330 | Metopic synostosis | 2 |
| HP:0100601 | Eclampsia | 2 |
| HP:0100790 | Hernia | 2 |
| HP:0000085 | Horseshoe kidney | 1 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000319 | Smooth philtrum | 1 |
| HP:0000340 | Sloping forehead | 1 |
| HP:0000343 | Long philtrum | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000612 | Iris coloboma | 1 |
| HP:0000773 | Short ribs | 1 |
| HP:0000790 | Hematuria | 1 |
| HP:0000819 | Diabetes mellitus | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000969 | Edema | 1 |
| HP:0001056 | Milia | 1 |
| HP:0001059 | Pterygium | 1 |
| HP:0001144 | Orbital cyst | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0001342 | Cerebral hemorrhage | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0001602 | Laryngeal stenosis | 1 |
| HP:0001635 | Congestive heart failure | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001643 | Patent ductus arteriosus | 1 |
| HP:0001655 | Patent foramen ovale | 1 |
| HP:0001747 | Accessory spleen | 1 |
| HP:0001791 | Fetal ascites | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002139 | Arrhinencephaly | 1 |
| HP:0002202 | Pleural effusion | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002308 | Arnold-Chiari malformation | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002539 | Cortical dysplasia | 1 |
| HP:0002566 | Intestinal malrotation | 1 |
| HP:0002583 | Colitis | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002863 | Myelodysplasia | 1 |
| HP:0004392 | Prune belly | 1 |
| HP:0004691 | 2-3 toe syndactyly | 1 |
| HP:0005306 | Capillary hemangioma | 1 |
| HP:0006191 | Deep palmar crease | 1 |
| HP:0006580 | Portal fibrosis | 1 |
| HP:0006931 | Lipoma of corpus callosum | 1 |
| HP:0006970 | Periventricular leukomalacia | 1 |
| HP:0008643 | Nephroblastomatosis | 1 |
| HP:0009238 | Aplasia of the 5th finger | 1 |
| HP:0010536 | Central sleep apnea | 1 |
| HP:0010557 | Overlapping fingers | 1 |
| HP:0011611 | Interrupted aortic arch | 1 |
| HP:0011951 | Aspiration pneumonia | 1 |
| HP:0011974 | Myelofibrosis | 1 |
| HP:0012165 | Oligodactyly | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030728 | Meromelia | 1 |
| HP:0032165 | Placental mesenchymal dysplasia | 1 |
| HP:0040276 | Adenocarcinoma of the colon | 1 |
| HP:0100598 | Pulmonary edema | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100880 | Nephrogenic rest | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|