eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| brachyolmia | ||||
| Disease ID | 938 |
|---|---|
| Disease | brachyolmia |
| Definition | An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. [url:http://www.ncbi.nlm.nih.gov/pubmed/10968486] - NORD Reference: NORD |
| Synonym | brachyolmia (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0432228 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | (Waiting for update.) |
| Disease ID | 938 |
|---|---|
| Disease | brachyolmia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 938 |
|---|---|
| Disease | brachyolmia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912633 | 24577120 | 59341 | TRPV4 | umls:C0432228 | BeFree | We generated a mouse model of the TRPV4(V620I) mutation, and found significant skeletal deformities (e.g., shortening of tibiae and digits, similar to the human disease brachyolmia) and increases in Fst/TRPV4 mRNA levels (2.8-fold). | 0.001628651 | 2014 | TRPV4 | 12 | 109792396 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003502 | Mild short stature | MP:0004830 | short incisors | reduced length of the set of long teeth that are the most anterior and prominent in the jaw |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003502 | Mild short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 938 |
|---|---|
| Disease | brachyolmia |
| Case | (Waiting for update.) |