|
| General Information | |||
|---|---|---|---|
| Term | cartilage-hair hypoplasia | ID (Ontology) | DOID:14773 (Human Disease) |
| Definition | An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. | ||
| Also Known As | "CHH" ; "McKusick type metaphyseal chondrodysplasia" ; "Metaphyseal chondrodysplasia, McKusick type" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__ syndrome | |__ectodermal dysplasia_________| cartilage-hair hypoplasia |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease ectodermal dysplasia |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
MESH:C535916 MIM:250250 NCI:C61245 SNOMEDCT_US_2023_03_01:234421004 UMLS_CUI:C0220748 |
|||