| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.9%) |
9098492 |
Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis. Perez-Aytes A, Montero L, Gomez J, Paya A. Am J Med Genet. 1997;69(4):409-12. |
| Single umbilical artery Absent foot | ||
| Ectromelia Fatal Outcome Homo sapiens Infant, Newborn Male | ||
| 2 (43.2%) |
21892002 |
Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography. Ono T, Katsura D, Tsuji S, Yomo H, Ishiko A, Inoue T, Kita N, Takahashi K, Murakami T. Tohoku J Exp Med. 2011;225(2):85-7. |
| Oligohydramnios Absence of the sacrum | ||
| Adult Ectromelia Fatal Outcome Females Fetus Homo sapiens Imaging, Three-Dimensional Lower Extremity Deformities, Congenital Pregnancy Pregnancy Trimester, Second Tomography, Spiral Computed | ||
| 3 (38.6%) |
8434614 |
Long term survival of an infant with sirenomelia. Clarke LA, Stringer DA, Fraser GC, Yong SL. Am J Med Genet. 1993;45(3):292-6. |
| Preauricular skin tag Rib fusion | ||
| Ectromelia Females Homo sapiens Infant Leg Pregnancy Ultrasonography, Prenatal Urogenital Abnormalities | ||
| 4 (31.0%) |
19239086 |
A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail. Guven MA, Uzel M, Ceylaner S, Coskun A, Ceylaner G, Gungoren A. Genet Couns. 2008;19(4):419-24. |
| Anal atresia Polydactyly | ||
| Adult Anus, Imperforate Diseases in Twins Ectromelia Females Homo sapiens Male Polydactyly Pregnancy Ultrasonography, Prenatal | ||
| 5 (28.9%) |
28693936 |
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. Islam N, Mandal B, Das RN, Bera G, Mukherjee S, Chatterjee U. Pathol Res Pract. 2017;213(11):1450-1453. |
| Abnormality of the hand | ||
| Autopsy Congenital Abnormality Females Homo sapiens Infant, Newborn Kidney Kidney Diseases Lower Extremity Deformities, Congenital Magnetic Resonance Imaging Ultrasonography, Prenatal Young Adult | ||
| 6 (28.5%) |
19099562 (2614953) |
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. Al Kaissi A, Klaushofer K, Grill F. Cases J. 2008;1(1):407. |
| Diabetes mellitus Knee flexion contracture | ||
| 7 (21.2%) |
11497371 |
Therapy in unilateral sirenomelia: report of one case. Tonnis D, Schildhauer C, Schildhauer M. J Pediatr Orthop B. 2001;10(3):255-8. |
| Flexion contracture | ||
| Amputation Biomechanical Phenomena Crutches Ectromelia Follow-Up Studies Homo sapiens Infant Limb Prosthesis Male Urinary Diversion | ||
| 7 (21.2%) |
6896449 |
Sirenomelia. Angiographic demonstration of vascular anomalies. Talamo TS, Macpherson TA, Dominquez R. Arch Pathol Lab Med. 1982;106(7):347-8. |
| Multiple skeletal anomalies | ||
| Adult Ectromelia Homo sapiens Infant, Newborn | ||
| 9 (17.5%) |
2028749 |
Spinal cord abnormalities in caudal regression syndrome. Towfighi J, Housman C. Acta Neuropathol. 1991;81(4):458-66. |
| Lipoma | ||
| CD2 CD6 | ||
| Ectromelia Females Homo sapiens Infant, Newborn Lumbosacral Region Male Spinal Cord | ||
| 10 (4.0%) |
31065147 |
Sirenomelia: A Case Report. Kattel P. JNMA J Nepal Med Assoc. 2018;56(214):974-976. |
| Single umbilical artery | ||
| Ectromelia Fatal Outcome Females Homo sapiens Infant, Newborn Oligohydramnios Pregnancy Ultrasonography, Prenatal |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000079 | Abnormality of the urinary system | Very frequent (99-80%) |
| HP:0002023 | Anal atresia | Very frequent (99-80%) |
| HP:0008678 | Renal hypoplasia/aplasia | Very frequent (99-80%) |
| HP:0010305 | Absence of the sacrum | Very frequent (99-80%) |
| HP:0010497 | Sirenomelia | Very frequent (99-80%) |
| HP:0001626 | Abnormality of the cardiovascular system | Frequent (79-30%) |
| HP:0002414 | Spina bifida | Frequent (79-30%) |
| HP:0002575 | Tracheoesophageal fistula | Frequent (79-30%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Frequent (79-30%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001562 | Oligohydramnios | 16 |
| HP:0001195 | Single umbilical artery | 15 |
| HP:0002323 | Anencephaly | 6 |
| HP:0000819 | Diabetes mellitus | 5 |
| HP:0009800 | Maternal diabetes | 4 |
| HP:0000042 | Absent external genitalia | 3 |
| HP:0002023 | Anal atresia | 3 |
| HP:0000062 | Ambiguous genitalia | 1 |
| HP:0000077 | Abnormality of the kidney | 1 |
| HP:0000126 | Hydronephrosis | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0001155 | Abnormality of the hand | 1 |
| HP:0001274 | Agenesis of corpus callosum | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001788 | Premature rupture of membranes | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002414 | Spina bifida | 1 |
| HP:0002575 | Tracheoesophageal fistula | 1 |
| HP:0004383 | Hypoplastic left heart | 1 |
| HP:0010442 | Polydactyly | 1 |
| HP:0012621 | Persistent cloaca | 1 |
| HP:0012732 | Anorectal anomaly | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|