About: Hereditary Connective Tissue Disorder

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About: Hereditary Connective Tissue Disorder 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	Hereditary Connective Tissue Disorder
rdfs:subClassOf	Connective Tissue Diseases
Has_NICHD_Parent	Connective Tissue Diseases Congenital Abnormalities
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Hereditary Connective Tissue Disorder
UMLS_CUI	C0410787
Contributing_Source	NICHD
FULL_SYN	Hereditary Connective Tissue DisorderPTNCI Congenital Connective Tissue DisorderPTNICHD Connective Tissue Hereditary DisorderSYNICHD
DEFINITION	An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.NCI
code	C97075
is rdfs:subClassOf of	Marfan Syndrome COL1A1 Associated Connective Tissue Disorder
is Has_NICHD_Parent of	Marfan Syndrome Menkes Kinky Hair Syndrome Chondrodysplasia Punctata, Rhizomelic Thrombocytopenia-Absent Radius Syndrome Osteogenesis Imperfecta Ehlers-Danlos Syndrome Epidermolysis Bullosa

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