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DO Term : neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome [DOID:0081396] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.
  • synonyms:
  • ORDO:615983,
  • PHRINL syndrome,
  • 618810,
  • OMIM:618810
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents