General Information
Term	diphthamide deficiency syndrome	ID (Ontology)	DOID:0070476 (Human Disease)
Definition	An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).
Also Known As	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" ; "DEDSSH" ; "developmental delay with short stature, dysmorphic facial features, and sparse hair"
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	DO.org
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General Information

Term

diphthamide deficiency syndrome

ID (Ontology)

DOID:0070476 (Human Disease)

Definition

An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2).

Also Known As

"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" ; "DEDSSH" ; "developmental delay with short stature, dysmorphic facial features, and sparse hair"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

No relevant statements available

autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   diphthamide deficiency syndrome  3 rec.
                                    |__diphthamide deficiency syndrome 1 1 rec.
                                    |__diphthamide deficiency syndrome 2 1 rec.
                                    |__neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 1 rec.

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Is a	autosomal recessive disease amino acid metabolic disorder
Part of
Synonyms & Secondary IDs
Synonyms
	"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT "DEDSSH" EXACT OMO:0003012 "developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT
Secondary IDs

External Crossreferences & Linkouts
	MIM:PS616901 ORDO:459061

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Parents/Children
View Depth

Relationships

Is a

autosomal recessive disease
amino acid metabolic disorder

Part of

Synonyms & Secondary IDs

Synonyms

"craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT
"DEDSSH" EXACT OMO:0003012
"developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT

Secondary IDs

External Crossreferences & Linkouts

MIM:PS616901
ORDO:459061