WormMine: DiseaseOntology DOID:0050781 Ogden syndrome Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.

1 Ontology

• Name: Disease Ontology

6 Parents

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:225	syndrome	A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050735	X-linked monogenic disease	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:0050781	Ogden syndrome	A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.

5 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:225	DOID:0050781
is_a	DOID:0050735	DOID:0050781
is_a	DOID:4	DOID:0050781
is_a	DOID:630	DOID:0050781
is_a	DOID:0050177	DOID:0050781

4 Synonyms

• Name: N-alpha-acetyltransferase
• Type: synonym

• Name: N-terminal acetyltransferase deficiency
• Type: synonym

• Name: OGDNS
• Type: synonym

• Name: X-linked Malformation and Infantile Lethality Syndrome
• Type: synonym