eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spondylometaphyseal dysplasia | ||||
| Disease ID | 567 |
|---|---|
| Disease | spondylometaphyseal dysplasia |
| Synonym | dappled metaphysis syndrome sed strudwick semd - spondyloepimetaphyseal dysplasia, strudwick type semd, strudwick type semdc semdstwk smd smed, strudwick type smed, type i spondyloepimetaphyseal dysplasia, strudwick type spondyloepimetaphyseal dysplasia, strudwick type (disorder) spondylometaepiphyseal dysplasia congenita, strudwick type spondylometaphyseal dysplasia (smd) strudwick syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0700635 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0035334 | cone-rod dystrophy | 6 C0035333 | retinitis | 1 C0022821 | kyphosis | 1 C0035334 | retinitis pigmentosa | 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:1) |
| Locus | (Waiting for update.) |
| Disease ID | 567 |
|---|---|
| Disease | spondylometaphyseal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0001385 | Hip dysplasia HP:0001288 | Gait disturbance HP:0004322 | Short stature HP:0000926 | Platyspondyly HP:0000944 | Abnormality of the metaphyses HP:0008905 | Rhizomelia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 567 |
|---|---|
| Disease | spondylometaphyseal dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0037928 | myelopathy |
| 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912871 | NA | 1280 | COL2A1 | umls:C0700635 | CLINVAR | NA | 0.48 | NA | COL2A1 | 12 | 47989769 | C | T |
| rs121912875 | NA | 1280 | COL2A1 | umls:C0700635 | CLINVAR | NA | 0.48 | NA | COL2A1;LOC105369752 | 12 | 47979519 | C | A |
| rs121912880 | NA | 1280 | COL2A1 | umls:C0700635 | CLINVAR | NA | 0.48 | NA | COL2A1 | 12 | 47986353 | C | A |
| rs121912881 | NA | 1280 | COL2A1 | umls:C0700635 | CLINVAR | NA | 0.48 | NA | COL2A1 | 12 | 47986388 | C | A |
| rs121912895 | NA | 1280 | COL2A1 | umls:C0700635 | CLINVAR | NA | 0.48 | NA | COL2A1 | 12 | 47978320 | T | C |
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:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008905 | Rhizomelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 567 |
|---|---|
| Disease | spondylometaphyseal dysplasia |
| Case | (Waiting for update.) |