chondrodysplasia punctata
Information
- Disease name
- chondrodysplasia punctata
- Disease ID
- DOID:2581
- Description
- "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography." [url:https\://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/22229330]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ARSL | X | 2,934,045 | 2,964,288 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:8542
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.3
- Cross Reference ID (Disease Ontology)
- MESH:D002806
- Cross Reference ID (Disease Ontology)
- MIM:215105
- Cross Reference ID (Disease Ontology)
- NCI:C84632
- Cross Reference ID (Disease Ontology)
- ORDO:93442
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205486004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0008445
- Exact Synonym (Disease Ontology)
- Chondrodysplasia punctata congenita
- ICD10 preferred id (Insert disease from ICD10)
- D0014062
- ICD10 class code (Insert disease from ICD10)
- Q77.3
- MeSH unique ID (MeSH (Medical Subject Headings))
- D002806