| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (58.5%) |
17764081 |
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. Am J Med Genet A. 2007;143A(19):2292-302. |
| Missing ribs Short nose | ||
| Aged, 80 and over Base Sequence DNA DNA Primers Females Homeodomain Proteins Homo sapiens Male Paired Box Transcription Factors Polymerase Chain Reaction Spondylolysis | ||
| 2 (43.2%) |
29445489 (5799658) |
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L. Clin Case Rep. 2018;6(2):420-425. |
| Short ribs | ||
| 3 (37.2%) |
22581610 |
Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. Scottoline B, Rosenthal S, Keisari R, Kirpekar R, Angell C, Wallerstein R. Am J Med Genet A. 2012;158A(6):1447-51. |
| Short neck | ||
| BMPER | ||
| Carrier Proteins Child, Preschool Dysostoses Heterozygote Homo sapiens Infant Infant, Newborn Male Mutation Phenotype Survivors | ||
| 3 (37.2%) |
15988748 |
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joye N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P. Am J Med Genet A. 2005;136A(4):373-6. |
| Short neck | ||
| Bone Diseases, Developmental Fatal Outcome Females Genes, Recessive Homo sapiens Infant, Newborn Kidney Neoplasm Male Nephroblastoma Spinal Osteophytosis Terminology as Topic | ||
| 5 (21.2%) |
28815954 |
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. Legare JM, Seaborg K, Laffin J, Giampietro PF. Am J Med Genet A. 2017;173(10):2808-2813. |
| Skeletal dysplasia | ||
| BMPER | ||
| Carrier Proteins Child Craniofacial Abnormalities Dysostoses Homo sapiens Male Mutation | ||
| 5 (21.2%) |
22469945 (3394881) |
Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis. Tasian SK, Kim GE, Miniati DN, DuBois SG. J Pediatr Hematol Oncol. 2012;34(7):548-51. |
| Skeletal dysplasia | ||
| Carrier Proteins Child, Preschool Dysostoses Homo sapiens Kidney Neoplasm Male Mutation Nephroblastoma | ||
| 7 (4.0%) |
30006055 |
Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder. Greenbaum L, Gilboa Y, Raas-Rothschild A, Barel O, Kol N, Reznik-Wolf H, Pode-Shakked B, Finezilber Y, Messing B, Berkenstadt M. Eur J Med Genet. 2019;62(3):167-171. |
| Horseshoe kidney | ||
| c|SUB|T|410|A p|SUB|V|137|D rs1554300601 | ||
| Carrier Proteins Craniofacial Abnormalities Dysostoses Homozygote Missense Mutation Ultrasonography, Prenatal | ||
| 7 (4.0%) |
21990102 |
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Am J Med Genet A. 2011;155A(11):2801-6. |
| Nephrogenic rest | ||
| BMPER | ||
| p|SUB|Q|104|X | ||
| Carrier Proteins Chromosome Mapping Chromosomes, Human, Pair 17 Females Founder Effect Gene Frequency Genetic Counseling Homo sapiens Homozygote Infant Infant, Newborn Mutation Pregnancy Pregnancy Trimester, Second Single Nucleotide Polymorphism Spondylosis |
Total: 11
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000921 | Missing ribs | Very frequent (99-80%) |
| HP:0002098 | Respiratory distress | Very frequent (99-80%) |
| HP:0002475 | Myelomeningocele | Very frequent (99-80%) |
| HP:0003275 | Narrow pelvis bone | Very frequent (99-80%) |
| HP:0004599 | Absent or minimally ossified vertebral bodies | Very frequent (99-80%) |
| HP:0005562 | Multiple renal cysts | Very frequent (99-80%) |
| HP:0005640 | Abnormal vertebral segmentation and fusion | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0100625 | Enlarged thorax | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000773 | Short ribs | 1 |
| HP:0008643 | Nephroblastomatosis | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |