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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Agenesis of Corpus Callosum (D061085)
Parent Node: Hypothermia (D007035)
..Starting node ..Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum (C559045)
Child Nodes:
Sister Nodes:
..Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum (C559045)
..Shapiro syndrome (C537594)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9622
Name:	Recurrent spontaneous hypothermia with hypoplasia of the corpus callosum
Definition:
Alternative IDs:
ParentIDs:	MESH:D007035\|MESH:D061085
TreeNumbers:	C10.500.034/C559045 \|C16.131.666.034/C559045 \|C23.300.008/C559045 \|C23.888.119.565/C559045
Synonyms:
Slim Mappings:	Congenital abnormality\|Nervous system disease\|Pathology (anatomical condition)\|Signs and symptoms
Reference:	MedGen: C559045 MeSH: C559045 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants