| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (23.3%) |
21658220 (3135501) |
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamande SR, Savarirayan R. Orphanet J Rare Dis. 2011;6:37. |
| Platyspondyly | ||
| TRPV4 | ||
| rs121912637 rs77975504 | ||
| Adult Bone Diseases, Developmental Child, Preschool Dwarfism Family Females Homo sapiens Infant Male Mutation Osteochondrodysplasias Phenotype TRPV Cation Channels | ||
| 1 (23.3%) |
8233993 |
Spondylometaphyseal dysplasia (Kozlowski type): case report. Guzman CM, Aaron GR. Pediatr Dent. 1993;15(1):49-52. |
| Pectus carinatum | ||
| Child Differential Diagnosis Dwarfism Females Homo sapiens Macroglossia Mucopolysaccharidosis IV Osteochondrodysplasias Spinal Diseases Syndrome Tooth Abnormalities | ||
| 3 (21.2%) |
22419508 |
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S. Am J Med Genet A. 2012;158A(4):795-802. |
| Sensory neuropathy Spondyloepimetaphyseal dysplasia | ||
| TRPV4 | ||
| Bone Diseases, Developmental Child Child, Preschool Females Genetic Association Studies Homo sapiens Missense Mutation Peripheral Nervous System Diseases TRPV Cation Channels | ||
| 3 (21.2%) |
21964829 |
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A. Am J Med Genet A. 2011;155A(11):2860-4. |
| Sensory neuropathy Skeletal dysplasia | ||
| p|SUB|G|78|W;RS#:397514474 p|SUB|K|276|E;RS#:387906907 p|SUB|T|740|I;RS#:387906906 rs387906906 rs387906907 rs397514474 | ||
| Females Fetal Growth Retardation Fetus Heterozygote Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Male Mutation Osteochondrodysplasias Phenotype Pregnancy Pregnancy Trimester, Second Spinal Muscular Atrophy TRPV Cation Channels Ultrasonography, Prenatal |
Total: 22
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001288 | Gait disturbance | Very frequent (99-80%) |
| HP:0002657 | Spondylometaphyseal dysplasia | Very frequent (99-80%) |
| HP:0002812 | Coxa vara | Very frequent (99-80%) |
| HP:0003015 | Flared metaphysis | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0000348 | High forehead | Frequent (79-30%) |
| HP:0000470 | Short neck | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0002857 | Genu valgum | Frequent (79-30%) |
| HP:0003037 | Enlarged joints | Frequent (79-30%) |
| HP:0005280 | Depressed nasal bridge | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0003311 | Hypoplasia of the odontoid process | Occasional (29-5%) |
| HP:0005930 | Abnormality of epiphysis morphology | Occasional (29-5%) |
| HP:0006660 | Aplastic clavicle | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000763 | Sensory neuropathy | 1 |
| HP:0000926 | Platyspondyly | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0004322 | Short stature | 1 |