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_2020_03_01:56692003 NCI:C85047 GARD:13160 |
has exact synonym |
Chondrodysplasia Punctata, Rhizomelic Form |
id |
DOID:2580 |
in_subset | |
label |
rhizomelic chondrodysplasia punctata |
notation |
DOID:2580 |
prefLabel |
rhizomelic chondrodysplasia punctata |
textual 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. |
引自 | |
有_obo_命名空间 |
disease_ontology |
subClassOf |