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Term ID: | 2081 |
Name: | Chitty Hall Baraitser syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D001851|MESH:D006130|MESH:D006319|MESH:D007767 |
TreeNumbers: | C05.116.198/C535928 |C09.218.458.341.887/C535928 |C10.597.751.418.341.887/C535928 |C11.496.456/C535928 |C23.550.393/C535928 |C23.888.592.763.393.341.887/C535928 |
Synonyms: | Deafness, femoral epiphyseal dysplasia, short stature and developmental delay |Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction |
Slim Mappings: | Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C535928
MeSH: C535928
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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