Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.120 Biomarker disease BEFREE PCH2 is characterized by cerebellar hypoplasia affecting the hemispheres more severely than the vermis, progressive cerebral atrophy and microcephaly, dyskinesia, seizures, and death in early childhood. 23562994 2013
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.120 Biomarker disease BEFREE PCH type 2 (PCH2) is characterized by respiratory and feeding difficulties at birth, extrapyramidal dyskinesia, severe developmental impairment, progressive microcephaly and frequent death in childhood. 20803644 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.120 Biomarker disease HPO