eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spondyloenchondrodysplasia | ||||
| Disease ID | 1249 |
|---|---|
| Disease | spondyloenchondrodysplasia |
| Synonym | spondyloenchondrodysplasia (disorder) spondyloenchondromatosis spondyloenchondromatosis (disorder) spondylometaphyseal dysplasia with enchondromatous changes |
| Orphanet | |
| OMIM | |
| UMLS | C0432222 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ACP5 | 19p13.2 |
| Disease ID | 1249 |
|---|---|
| Disease | spondyloenchondrodysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0002657 | Spondylometaphyseal dysplasia HP:0001249 | Mental retardation HP:0004322 | Stature below 3rd percentile HP:0002751 | Kyphoscoliosis HP:0000926 | Flattened vertebral bodies HP:0002938 | Exaggerated lumbar lordosis HP:0004015 | Abnormality of radial metaphyses HP:0002514 | Intracranial calcifications HP:0005868 | Metaphyseal enchondromatosis HP:0004039 | Abnormality of ulnar metaphysis HP:0002478 | Progressive spastic quadriplegia HP:0006491 | Abnormality of the tibial metaphysis HP:0002983 | Micromelia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1249 |
|---|---|
| Disease | spondyloenchondrodysplasia |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002657 | Spondylometaphyseal dysplasia | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002478 | Progressive spastic quadriplegia | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002514 | Cerebral calcification | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002938 | Lumbar hyperlordosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1249 |
|---|---|
| Disease | spondyloenchondrodysplasia |
| Case | (Waiting for update.) |