thanatophoric dysplasia
Information
- Disease name
- thanatophoric dysplasia
- Disease ID
- DOID:13481
- Description
- "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin." [url:http\://en.wikipedia.org/wiki/Thanatophoric_dysplasia, url:http\://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:85
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q77.1
- Cross Reference ID (Disease Ontology)
- MESH:D013796
- Cross Reference ID (Disease Ontology)
- MIM:187600
- Cross Reference ID (Disease Ontology)
- MIM:187601
- Cross Reference ID (Disease Ontology)
- MIM:273680
- Cross Reference ID (Disease Ontology)
- NCI:C85187
- Cross Reference ID (Disease Ontology)
- ORDO:1860
- Cross Reference ID (Disease Ontology)
- ORDO:2655
- Cross Reference ID (Disease Ontology)
- ORDO:93274
- Cross Reference ID (Disease Ontology)
- ORDO:93275
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:29352008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0039743
- OrphaNumber from OrphaNet (Orphanet)
- 2655
- MeSH unique ID (MeSH (Medical Subject Headings))
- D013796