Fibrochondrogenesis 1
Disease ID: disease_node_15680
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| Dbxref | MIM:228520 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060465 |
| Data Source | DOID |
| Doid Label | fibrochondrogenesis 1 |
| Doid Description | A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15680 |
| Doid Id | DOID_0080672 |
| Label | Fibrochondrogenesis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)