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Temple Syndrome

Disease ID: disease_node_20246

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DbxrefMIM:616222, NCI:C120409, ORDO:254516, SNOMEDCT_US_2023_03_01:778012003, UMLS_CUI:C4015558
SubclassofDOID_225
Data SourceDOID
Doid LabelTemple syndrome
Doid DescriptionA syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32.
Disease Node Iddisease_node_20246
Doid IdDOID_0111713
LabelTemple Syndrome