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anencephaly
Disease Summary
Associated Targets (4)
Tbio
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060668
NCIT:C84560
MONDO:0000819
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.