rhizomelic chondrodysplasia punctata

Term ID

DOID:2580

Synonyms

Chondrodysplasia Punctata, Rhizomelic Form

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. (3)

References

GARD:13160
ICD10CM:E71.540
MESH:D018902
NCI:C85047
OMIM:PS215100
ORDO:177
SNOMEDCT_US_2023_03_01:56692003
UMLS_CUI:C0282529

Ontology

Human Disease ( DOID:2580 )

Relationships

is a type of: autosomal recessive disease chondrodysplasia punctata

autosomal recessive disease chondrodysplasia punctata Show first 5 Terms
has subtype: rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata type 5 rhizomelic chondrodysplasia punctate type 4

rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata type 5 rhizomelic chondrodysplasia punctate type 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations