loading...| Preferred Name |
Freeman-Sheldon Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98931 |
| code |
C98931 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties. |
| FULL_SYN |
DA2A Craniocarpotarsal Dysplasia Freeman Sheldon Syndrome Cranio-Carpo-Tarsal Syndrome Distal Arthrogryposis Type 2A Windmill-Vane-Hand Syndrome Whistling-Face Syndrome |
| Has_NICHD_Parent | |
| label |
Freeman-Sheldon Syndrome |
| NICHD_Hierarchy_Term |
Freeman-Sheldon Syndrome |
| Preferred_Name |
Freeman-Sheldon Syndrome |
| prefixIRI |
C98931 |
| prefLabel |
Freeman-Sheldon Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0265224 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535483 | Medical Subject Headings | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111604 | Human Disease Ontology 123 | LOOM |