Weill-Marchesani syndrome
Information
- Disease name
- Weill-Marchesani syndrome
- Disease ID
- DOID:0050475
- Description
- "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities." [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:4936
- Cross Reference ID (Disease Ontology)
- MESH:D056846
- Cross Reference ID (Disease Ontology)
- MIM:277600
- Cross Reference ID (Disease Ontology)
- MIM:608328
- Cross Reference ID (Disease Ontology)
- MIM:613195
- Cross Reference ID (Disease Ontology)
- MIM:614819
- Cross Reference ID (Disease Ontology)
- MIM:PS277600
- Cross Reference ID (Disease Ontology)
- NCI:C85226
- Cross Reference ID (Disease Ontology)
- ORDO:3449
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:205801004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265313
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1869114
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1869115
- Exact Synonym (Disease Ontology)
- congenital mesodermal dystrophy
- Exact Synonym (Disease Ontology)
- GEMSS syndrome
- Exact Synonym (Disease Ontology)
- Marchesani-Weill Syndrome
- Exact Synonym (Disease Ontology)
- Mesodermal Dysmorphodystrophy, Congenital
- Exact Synonym (Disease Ontology)
- Spherophakia Brachymorphia Syndrome
- OMIM Phenotype Series Number (OMIM)
- PS277600
- OrphaNumber from OrphaNet (Orphanet)
- 3449
- MedGen concept unique identifier (MedGen Concept name)
- C0265313
- MedGen unique identifier (MedGen Concept name)
- 82705
- MeSH unique ID (MeSH (Medical Subject Headings))
- D056846