| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.4%) |
11746009 |
Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A. Am J Med Genet. 2001;103(4):295-301. |
| Telecanthus Phocomelia | ||
| Adult Ectromelia Face Females Genes, Recessive Homo sapiens Infant, Newborn Male Pelvic Bones Syndrome Toes | ||
| 2 (50.2%) |
4951233 |
Thrombocytopenia with absent radius (TAR). Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA. Medicine (Baltimore). 1969;48(6):411-39. |
| Thrombocytopenia Absent radius | ||
| Adult Cell Count Child Child, Preschool Congenital Heart Defects Differential Diagnosis Females Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Male Megakaryocytes Syndrome Thrombocytopenia | ||
| 3 (49.1%) |
19497840 |
[Thalidomide (Contergan) induced limb deficiency in Hungary?]. Gidai J, Bacs E, Czeizel E. Orv Hetil. 2009;150(25):1179-81. |
| Fibular hypoplasia | ||
| Differential Diagnosis Females Femur Fibula Homo sapiens Hungary Lower Extremity Deformities, Congenital Middle Aged Pregnancy Schizophrenia Teratogens Upper Extremity Deformities, Congenital | ||
| 4 (48.0%) |
322750 |
Limb anomalies in chromosomal aberrations. Pfeiffer RA, Santelmann R. Birth Defects Orig Artic Ser. 1977;13(1):319-37. |
| Syndactyly Radioulnar synostosis Phocomelia | ||
| Child Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Chromosomes, Human, 21-22 and Y Chromosomes, Human, 4-5 Chromosomes, Human, 6-12 and X Fingers Homo sapiens Infant Limb Deformities, Congenital Mosaicism Ploidies Toes Trisomy | ||
| 5 (38.6%) |
28990356 |
Thalidomide Embryopathy as Possible Cause of Anterior Sacral Meningocele: A Case Report. Croci DM, Dalolio M, Schaeren S, Wasner MG, Mariani L, Jost GF. Birth Defects Res. 2017;109(17):1390-1392. |
| Anterior sacral meningocele Facial palsy | ||
| Fetal Diseases Homo sapiens Magnetic Resonance Imaging Male Middle Aged Sacrococcygeal Region X-Ray Computed Tomography | ||
| 6 (23.3%) |
3810179 |
Progressive non-infectious anterior vertebral fusion. Smith JR, Martin IR, Shaw DG, Robinson RO. Skeletal Radiol. 1986;15(8):599-604. |
| Spinal cord compression Kyphosis | ||
| Age Factors Child Child, Preschool Females Fetal Diseases Homo sapiens Male Pregnancy Scheuermann's Disease | ||
| 6 (23.3%) |
2361437 |
[Presacral meningocele in thalidomide-induced embryopathy]. Brocheler J, Halfmann R. Dtsch Med Wochenschr. 1990;115(25):977-9. |
| Abdominal pain Anterior sacral meningocele | ||
| Abnormalities, Drug-Induced Adult Homo sapiens Laminectomy Male Myelography Repeat Surgery Sacrococcygeal Region X-Ray Computed Tomography | ||
| 8 (4.0%) |
23448904 |
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings. Vianna FS, Schuler-Faccini L, Leite JC, de Sousa SH, da Costa LM, Dias MF, Morelo EF, Doriqui MJ, Maximino CM, Sanseverino MT. Clin Dysmorphol. 2013;22(2):59-63. |
| Erythema nodosum | ||
| Brazil Endemic Diseases Erythema Nodosum Females Fetal Diseases Homo sapiens Hypnotics and Sedatives Legislation, Drug Leprosy Male Polydactyly | ||
| 8 (4.0%) |
17676592 |
New cases of thalidomide embryopathy in Brazil. Schuler-Faccini L, Soares RC, de Sousa AC, Maximino C, Luna E, Schwartz IV, Waldman C, Castilla EE. Birth Defects Res A Clin Mol Teratol. 2007;79(9):671-2. |
| Erythema nodosum | ||
| Abnormalities, Drug-Induced Adult Brazil Females Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Pregnancy Registries Teratogens | ||
| 8 (4.0%) |
8157157 |
Autism in thalidomide embryopathy: a population study. Stromland K, Nordin V, Miller M, Akerstrom B, Gillberg C. Dev Med Child Neurol. 1994;36(4):351-6. |
| Autism | ||
| Adult Autistic Disorder Deafness Females Homo sapiens Intellectual Disability Male Pregnancy Prenatal Exposure Delayed Effects |
Total: 17
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001171 | Split hand | Frequent (79-30%) |
| HP:0001177 | Preaxial hand polydactyly | Frequent (79-30%) |
| HP:0001199 | Triphalangeal thumb | Frequent (79-30%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Frequent (79-30%) |
| HP:0002991 | Abnormality of fibula morphology | Frequent (79-30%) |
| HP:0004059 | Radial club hand | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005613 | Aplasia/hypoplasia of the femur | Frequent (79-30%) |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | Frequent (79-30%) |
| HP:0006507 | Aplasia/hypoplasia of the humerus | Frequent (79-30%) |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | Frequent (79-30%) |
| HP:0009813 | Upper limb phocomelia | Frequent (79-30%) |
| HP:0000356 | Abnormality of the outer ear | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000855 | Insulin resistance | Occasional (29-5%) |
| HP:0002257 | Chronic rhinitis | Occasional (29-5%) |
| HP:0009892 | Anotia | Occasional (29-5%) |
Total: 6
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0009829 | Phocomelia | 2 |
| HP:0000717 | Autism | 1 |
| HP:0001903 | Anemia | 1 |
| HP:0002027 | Abdominal pain | 1 |
| HP:0007293 | Anterior sacral meningocele | 1 |
| HP:0010628 | Facial palsy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|