National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Seckel Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125488
code	C125488
DEFINITION	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
FULL_SYN	SCKL Microcephalic Primordial Dwarfism Nanocephalic Dwarfism Seckel-Type Dwarfism Bird-Headed Dwarfism
label	Seckel Syndrome
Preferred_Name	Seckel Syndrome
prefixIRI	C125488
prefLabel	Seckel Syndrome
Semantic_Type	Disease or Syndrome
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0050569	Human Disease Ontology 123	LOOM