General Information
Term	rhizomelic chondrodysplasia punctata	ID (Ontology)	DOID:2580 (Human Disease)
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.
Also Known As	"Chondrodysplasia Punctata, Rhizomelic Form"
Comment
Links to External Ontologies
	DO.org
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Records annotated with this term OR any of its CHILD TERMS
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General Information

Term

rhizomelic chondrodysplasia punctata

ID (Ontology)

DOID:2580 (Human Disease)

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.

Also Known As

"Chondrodysplasia Punctata, Rhizomelic Form"

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

monogenic disease
 |__chondrodysplasia punctata____
autosomal genetic disease        |
 |__autosomal recessive disease__|
syndrome                         |
 |__chondrodysplasia punctata____|
                                 rhizomelic chondrodysplasia punctata  15 rec.
                                  |__rhizomelic chondrodysplasia punctata type 1 1 rec.
                                  |__rhizomelic chondrodysplasia punctata type 2 1 rec.
                                  |__rhizomelic chondrodysplasia punctata type 3 1 rec.
                                  |__rhizomelic chondrodysplasia punctata type 5 1 rec.
                                  |__rhizomelic chondrodysplasia punctate type 4 11 rec.

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Is a	autosomal recessive disease chondrodysplasia punctata
Part of
Synonyms & Secondary IDs
Synonyms
	"Chondrodysplasia Punctata, Rhizomelic Form" EXACT
Secondary IDs

External Crossreferences & Linkouts
	GARD:13160 ICD10CM:E71.540 MESH:D018902 MIM:PS215100 NCI:C85047 ORDO:177 SNOMEDCT_US_2023_03_01:56692003 UMLS_CUI:C0282529

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Parents/Children
View Depth

Relationships

Is a

autosomal recessive disease
chondrodysplasia punctata

Part of

Synonyms & Secondary IDs

Synonyms

"Chondrodysplasia Punctata, Rhizomelic Form" EXACT

Secondary IDs

External Crossreferences & Linkouts

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