loading...| Preferred Name |
rhizomelic chondrodysplasia punctata |
| Synonyms |
Chondrodysplasia Punctata, Rhizomelic Form |
| Definitions |
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_2580 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:PS215100 ORDO:177 UMLS_CUI:C0282529 ICD10CM:E71.540 MESH:D018902 SNOMEDCT_US_2022_09_01:56692003 NCI:C85047 GARD:13160 |
| definition |
A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. |
| has exact synonym |
Chondrodysplasia Punctata, Rhizomelic Form |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2580 |
| in_subset | |
| label |
rhizomelic chondrodysplasia punctata |
| notation |
DOID:2580 |
| prefLabel |
rhizomelic chondrodysplasia punctata |
| subClassOf |