WormMine: DiseaseOntology DOID:0080075 Neu-Laxova syndrome 2 Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9252	amino acid metabolic disorder	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:0050721	serine deficiency	An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine.
DOID:0080075	Neu-Laxova syndrome 2	A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.

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