| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (44.7%) |
21272302 (3039604) |
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. Ballini A, Cantore S, Tullo D, Desiate A. J Med Case Rep. 2011;5:38. |
| Microcephaly Facial asymmetry Blepharophimosis | ||
| 2 (40.2%) |
10631929 |
Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. Fryns JP, Dumoulin M, Hens G. Genet Couns. 1999;10(4):395-8. |
| Microcephaly Triangular face | ||
| EDA | ||
| Atrial Septal Defects Basal Ganglia Diseases Cataract Females Homo sapiens Infant, Newborn Progeria Syndrome | ||
| 3 (39.0%) |
29783825 |
[Clinical and molecular analysis of two Chinese siblings with Bloom syndrome]. Wu ML, Wang XM, Li J, Ding Y, Chen Y, Chang GY, Wang J, Shen YP. Zhonghua Er Ke Za Zhi. 2018;56(5):373-376. |
| Microcephaly | ||
| c|DEL|772_773|CT c|SUB|T|959+2|A p|FS|L|258|E| | ||
| Bloom Syndrome Child China Females Heterozygote Homo sapiens Immune System Diseases Male Malnutrition Microcephaly Pregnancy Sibling | ||
| 3 (39.0%) |
29056561 |
Bloom syndrome does not always present with sun-sensitive facial erythema. Bouman A, van Koningsbruggen S, Karakullukcu MB, Schreuder WH, Lakeman P. Eur J Med Genet. 2018;61(2):94-97. |
| Microcephaly | ||
| c|DEL|3681| c|INDEL|2207_2212| p|FS|K|1227|N|52 p|FS|Y|736|L|5 | ||
| Adult Bloom Syndrome Differential Diagnosis Erythema Females Homo sapiens Phenotype RecQ Helicases Sunlight | ||
| 3 (39.0%) |
28960803 |
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. Am J Med Genet A. 2017;173(11):3075-3081. |
| Microcephaly | ||
| c|SUB|G|1949-1|A;RS#:779058797 c|SUB|G|IVS19-1|A c|SUB|T|1523|G p|SUB|L|508|R | ||
| Child Chromosome Breakage DEAD-box RNA Helicases DNA Helicases Fanconi Anemia Females Genetic Predisposition to Disease Gonadal Dysgenesis Homo sapiens Intellectual Disability Mutation Phenotype | ||
| 3 (39.0%) |
10751094 |
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Aviram-Goldring A, Fritz B, Bartsch C, Steuber E, Daniely M, Lev D, Chaki R, Barkai G, Frydman M, Rehder H. Am J Med Genet. 2000;91(1):74-82. |
| Microcephaly | ||
| MYCN PTGES3 TMED2 | ||
| Adult Child Child, Preschool Chromosome Banding Chromosomes, Human, Pair 2 Cytogenetic Analysis Fatal Outcome Females Fetal Death Fluorescent in Situ Hybridization Follow-Up Studies Growth Disorders Homo sapiens Infant Male Paraffin Embedding Pregnancy Psychomotor Disorders Tissue Embedding Trisomy | ||
| 7 (29.4%) |
9144698 |
A case of Bloom syndrome with conjunctival telangiectasia. Sahn EE, Hussey RH 3rd, Christmann LM. Pediatr Dermatol. 1997;14(2):120-4. |
| Conjunctival telangiectasia | ||
| Bloom Syndrome Epidermis Erythema Homo sapiens Infant Male Skin | ||
| 8 (4.0%) |
31210938 |
Pancreatic cancer in bloom syndrome. Tzfoni I, Chayo J, Shaked M, Bernstein E, Dekel R, Arber N, Shapira S. SAGE Open Med Case Rep. 2019;7:2050313X19855587. |
| Short stature | ||
| 8 (4.0%) |
30410776 (6217711) |
Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. Aljarad S, Alhamid A, Rahmeh AR, Alibraheem A, Wafa A, Alachkar W, Aljarad Z, Aziz G. Oxf Med Case Reports. 2018;2018(12):omy096. |
| Pneumonia | ||
| BLM | ||
| 8 (4.0%) |
27861482 |
[Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child]. Rosales-Solis GM, Martinez-Longoria CA, Guerrero-Gonzalez GA, Ocampo-Garza J, Ocampo-Candiani J. Gac Med Mex. 2016;152(6):836-837. |
| Poikiloderma | ||
| Bloom Syndrome Cafe-au-Lait Spots Child, Preschool Facies Females Homo sapiens Skin Abnormalities |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000246 | Sinusitis | Very frequent (99-80%) |
| HP:0000268 | Dolichocephaly | Very frequent (99-80%) |
| HP:0000272 | Malar flattening | Very frequent (99-80%) |
| HP:0000275 | Narrow face | Very frequent (99-80%) |
| HP:0000366 | Abnormality of the nose | Very frequent (99-80%) |
| HP:0000951 | Abnormality of the skin | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0002014 | Diarrhea | Very frequent (99-80%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
| HP:0002664 | Neoplasm | Very frequent (99-80%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (99-80%) |
| HP:0003220 | Abnormality of chromosome stability | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0005585 | Spotty hyperpigmentation | Very frequent (99-80%) |
| HP:0005598 | Facial telangiectasia in butterfly midface distribution | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0010783 | Erythema | Very frequent (99-80%) |
| HP:0000271 | Abnormality of the face | Frequent (79-30%) |
| HP:0000992 | Cutaneous photosensitivity | Frequent (79-30%) |
| HP:0001620 | High pitched voice | Frequent (79-30%) |
| HP:0003196 | Short nose | Frequent (79-30%) |
| HP:0010669 | Hypoplasia of the zygomatic bone | Frequent (79-30%) |
| HP:0100585 | Telangiectasia of the skin | Frequent (79-30%) |
| HP:0000027 | Azoospermia | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000411 | Protruding ear | Occasional (29-5%) |
| HP:0000868 | Decreased fertility in females | Occasional (29-5%) |
| HP:0000960 | Sacral dimple | Occasional (29-5%) |
| HP:0000975 | Hyperhidrosis | Occasional (29-5%) |
| HP:0001053 | Hypopigmented skin patches | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001256 | Intellectual disability, mild | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002720 | Decreased circulating IgA level | Occasional (29-5%) |
| HP:0002850 | Decreased circulating total IgM | Occasional (29-5%) |
| HP:0002860 | Squamous cell carcinoma | Occasional (29-5%) |
| HP:0004313 | Decreased antibody level in blood | Occasional (29-5%) |
| HP:0004315 | Decreased circulating IgG level | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0007378 | Neoplasm of the gastrointestinal tract | Occasional (29-5%) |
| HP:0008064 | Ichthyosis | Occasional (29-5%) |
| HP:0009804 | Reduced number of teeth | Occasional (29-5%) |
Total: 29
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002721 | Immunodeficiency | 7 |
| HP:0000789 | Infertility | 3 |
| HP:0004322 | Short stature | 3 |
| HP:0010783 | Erythema | 3 |
| HP:0001009 | Telangiectasia | 2 |
| HP:0001041 | Facial erythema | 2 |
| HP:0011510 | Drusen | 2 |
| HP:0030731 | Carcinoma | 2 |
| HP:0000026 | Male hypogonadism | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000524 | Conjunctival telangiectasia | 1 |
| HP:0000988 | Skin rash | 1 |
| HP:0001029 | Poikiloderma | 1 |
| HP:0001518 | Small for gestational age | 1 |
| HP:0001909 | Leukemia | 1 |
| HP:0002024 | Malabsorption | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002860 | Squamous cell carcinoma | 1 |
| HP:0002863 | Myelodysplasia | 1 |
| HP:0003508 | Proportionate short stature | 1 |
| HP:0007380 | Facial telangiectasia | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0012733 | Macule | 1 |
| HP:0030499 | Macular drusen | 1 |
| HP:0031500 | Abdominal mass | 1 |
| HP:0040012 | Chromosome breakage | 1 |
| HP:0100534 | Episcleritis | 1 |