acromicric dysplasia
Information
- Disease name
- acromicric dysplasia
- Disease ID
- DOID:0111243
- Description
- "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322, url:https\://www.ncbi.nlm.nih.gov/pubmed/3728563]
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:7
- Cross Reference ID (Disease Ontology)
- MESH:C535662
- Cross Reference ID (Disease Ontology)
- MIM:102370
- Cross Reference ID (Disease Ontology)
- ORDO:969
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254090007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265287
- Exact Synonym (Disease Ontology)
- ACMICD
- Exact Synonym (Disease Ontology)
- acromicric skeletal dysplasia
- OrphaNumber from OrphaNet (Orphanet)
- 969