About: rhizomelic chondrodysplasia punctata

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease chondrodysplasia punctata nodeID://b50950949
label	rhizomelic chondrodysplasia punctata
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2580
database_cross_reference	GARD:13160 ICD10CM:E71.540 MESH:D018902 NCI:C85047 OMIM:PS215100 ORDO:177 SNOMEDCT_US_2021_09_01:56692003 UMLS_CUI:C0282529
has_exact_synonym	Chondrodysplasia Punctata, Rhizomelic Form (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is subClassOf of	rhizomelic chondrodysplasia punctata type 1 rhizomelic chondrodysplasia punctata type 2 rhizomelic chondrodysplasia punctata type 3 rhizomelic chondrodysplasia punctata type 5
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950950

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