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Disease Summary
Associated Targets (4)


Mondo Description A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
Uniprot Description An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH inheritance is autosomal recessive.
Disease Ontology Description A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp.
Mondo Term and Equivalent IDs
MONDO:0000819:  anencephaly
DOID:0060668: anencephaly