| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (54.1%) |
2839896 |
[Hereditary Poland syndrome with megacalycosis of the right kidney]. Briner V, Thiel G. Schweiz Med Wochenschr. 1988;118(23):898-903. |
| Short forearm | ||
| Adult Breast Females Homo sapiens Male Poland Syndrome Syndactyly Urography | ||
| 2 (51.9%) |
6087766 |
[Poland-Mobius syndrome. Apropos of 2 cases]. Fontaine G, Ovlaque S. Arch Fr Pediatr. 1984;41(5):351-2. |
| Brachydactyly Unilateral facial palsy | ||
| Females Homo sapiens Infant, Newborn Male Pectoralis Muscles Syndactyly Syndrome | ||
| 3 (51.6%) |
23420344 |
Poland syndrome: from embryological basis to plastic surgery. Cingel V, Bohac M, Mestanova V, Zabojnikova L, Varga I. Surg Radiol Anat. 2013;35(8):639-46. |
| Syndactyly Short finger | ||
| Child, Preschool Homo sapiens Infant Male Poland Syndrome X-Ray Computed Tomography | ||
| 3 (51.6%) |
12172832 |
Radiological aspects of the Poland syndrome and implications for treatment: a case study and review. Mentzel HJ, Seidel J, Sauner D, Vogt S, Fitzek C, Zintl F, Kaiser WA. Eur J Pediatr. 2002;161(8):455-9. |
| Syndactyly Short finger | ||
| Child Females Forearm Homo sapiens Magnetic Resonance Angiography Poland Syndrome Ultrasonography, Doppler, Color Ultrasonography, Doppler, Duplex X-Ray Computed Tomography | ||
| 5 (49.0%) |
28061881 (5217236) |
Moebius sequence -a multidisciplinary clinical approach. Pedersen LK, Maimburg RD, Hertz JM, Gjorup H, Pedersen TK, Moller-Madsen B, Ostergaard JR. Orphanet J Rare Dis. 2017;12(1):4. |
| Brachydactyly Adactyly | ||
| Child Child, Preschool Females Homo sapiens Male Mobius Syndrome Young Adult | ||
| 6 (47.6%) |
6260004 |
[Unilateral Moebius syndrome associated with Poland's abnormality in a 25-year-old woman (author's transl)]. Albertini F, Nizet F, Babule A, Camuzet JP. Ann Otolaryngol Chir Cervicofac. 1980;97(3):267-75. |
| Syndactyly Facial paralysis | ||
| Adult Females Homo sapiens Ophthalmoplegia Pectoralis Muscles Syndactyly Syndrome | ||
| 7 (45.4%) |
25306435 |
Clinical characteristics and outcomes of Mobius syndrome in a children's hospital. Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa K, Shibasaki J, Ohyama M, Aida N. Pediatr Neurol. 2014;51(6):781-9. |
| Tongue atrophy Jaw ankylosis | ||
| Adult Child Child, Preschool Fatal Outcome Females Follow-Up Studies Homo sapiens Hospitals, Pediatric Infant Male Mobius Syndrome Young Adult | ||
| 8 (44.7%) |
6711615 |
Brief clinical report: duplication of distal 17q: report of an observation. Naccache NF, Vianna-Morgante AM, Richieri-Costa A. Am J Med Genet. 1984;17(3):633-9. |
| Microcephaly Widow's peak Narrow palpebral fissure | ||
| Adult Chromosome Banding Chromosomes, Human, 16-18 Females Heterozygote Homo sapiens Infant Intellectual Disability Male Syndrome | ||
| 9 (43.6%) |
7823532 |
[Congenital absence of the pectoral muscle with contralateral peromelia of the forearm]. Fehlow P, Walther F. Klin Padiatr. 1994;206(6):452-3. |
| Peromelia | ||
| Adult Congenital Hand Deformities Females Forearm Homo sapiens Intellectual Disability Pectoralis Muscles | ||
| 10 (43.2%) |
28824998 |
Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. Drebov RS, Katsarov A 2nd. Surg J (N Y). 2016;2(3):e91-e95. |
| Missing ribs | ||
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001555 | Asymmetry of the thorax | Very frequent (99-80%) |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | Very frequent (99-80%) |
| HP:0007519 | Lack of subcutaneous fatty tissue | Very frequent (99-80%) |
| HP:0009751 | Aplasia of the pectoralis major muscle | Very frequent (99-80%) |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | Very frequent (99-80%) |
| HP:0000089 | Renal hypoplasia | Frequent (79-30%) |
| HP:0001155 | Abnormality of the hand | Frequent (79-30%) |
| HP:0006008 | Unilateral brachydactyly | Frequent (79-30%) |
| HP:0009700 | Finger symphalangism | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000070 | Ureterocele | Occasional (29-5%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (29-5%) |
| HP:0000081 | Duplicated collecting system | Occasional (29-5%) |
| HP:0000252 | Microcephaly | Occasional (29-5%) |
| HP:0000356 | Abnormality of the outer ear | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000766 | Abnormality of the sternum | Occasional (29-5%) |
| HP:0000768 | Pectus carinatum | Occasional (29-5%) |
| HP:0000772 | Abnormality of the ribs | Occasional (29-5%) |
| HP:0000773 | Short ribs | Occasional (29-5%) |
| HP:0000776 | Congenital diaphragmatic hernia | Occasional (29-5%) |
| HP:0000819 | Diabetes mellitus | Occasional (29-5%) |
| HP:0000912 | Sprengel anomaly | Occasional (29-5%) |
| HP:0000921 | Missing ribs | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001161 | Hand polydactyly | Occasional (29-5%) |
| HP:0001171 | Split hand | Occasional (29-5%) |
| HP:0001392 | Abnormality of the liver | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001651 | Dextrocardia | Occasional (29-5%) |
| HP:0002084 | Encephalocele | Occasional (29-5%) |
| HP:0002162 | Low posterior hairline | Occasional (29-5%) |
| HP:0002488 | Acute leukemia | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002814 | Abnormality of the lower limb | Occasional (29-5%) |
| HP:0002937 | Hemivertebrae | Occasional (29-5%) |
| HP:0002997 | Abnormality of the ulna | Occasional (29-5%) |
| HP:0003063 | Abnormality of the humerus | Occasional (29-5%) |
| HP:0003298 | Spina bifida occulta | Occasional (29-5%) |
| HP:0003422 | Vertebral segmentation defect | Occasional (29-5%) |
| HP:0004050 | Absent hand | Occasional (29-5%) |
| HP:0004349 | Reduced bone mineral density | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Occasional (29-5%) |
| HP:0006714 | Aplasia/Hypoplasia of the sternum | Occasional (29-5%) |
| HP:0007477 | Abnormal dermatoglyphics | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0009594 | Retinal hamartoma | Occasional (29-5%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Occasional (29-5%) |
| HP:0010579 | Cone-shaped epiphysis | Occasional (29-5%) |
| HP:0100013 | Neoplasm of the breast | Occasional (29-5%) |
Total: 34
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 8 |
| HP:0000767 | Pectus excavatum | 2 |
| HP:0000252 | Microcephaly | 1 |
| HP:0000470 | Short neck | 1 |
| HP:0000544 | External ophthalmoplegia | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000957 | Cafe-au-lait spot | 1 |
| HP:0000961 | Cyanosis | 1 |
| HP:0001156 | Brachydactyly | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001698 | Pericardial effusion | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002162 | Low posterior hairline | 1 |
| HP:0002527 | Falls | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002827 | Hip dislocation | 1 |
| HP:0002937 | Hemivertebrae | 1 |
| HP:0003043 | Abnormality of the shoulder | 1 |
| HP:0003187 | Breast hypoplasia | 1 |
| HP:0005214 | Intestinal obstruction | 1 |
| HP:0005256 | Unilateral absence of pectoralis major muscle | 1 |
| HP:0005258 | Pectoral muscle hypoplasia/aplasia | 1 |
| HP:0007209 | Facial paralysis | 1 |
| HP:0008953 | Pectoralis major hypoplasia | 1 |
| HP:0009110 | Diaphragmatic eventration | 1 |
| HP:0009381 | Short finger | 1 |
| HP:0009828 | Peromelia | 1 |
| HP:0011100 | Intestinal atresia | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0030075 | Ductal carcinoma in situ | 1 |
| HP:0030717 | Meconium peritonitis | 1 |
| HP:0100699 | Scarring | 1 |
| HP:0100790 | Hernia | 1 |
| HP:0410030 | Cleft lip | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|