About: Rhizomelic Chondrodysplasia Punctata

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About: Rhizomelic Chondrodysplasia Punctata Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Rhizomelic Chondrodysplasia Punctata
rdfs:subClassOf	Chondrodysplasia Punctata
Has_NICHD_Parent	Hereditary Connective Tissue Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Rhizomelic Chondrodysplasia Punctata
UMLS_CUI	C0282529
Contributing_Source	NICHD
FULL_SYN	Rhizomelic Chondrodysplasia PunctataPTNCI Rhizomelic Chondrodysplasia Punctata SyndromePTNICHD Rhizomelic DwarfismSYNICHD
DEFINITION	An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.NCI
code	C85047
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0028265
is sameAs of	Chondrodysplasia Punctata, Rhizomelic

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