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DO Term : diphthamide deficiency syndrome 1 [DOID:0070477] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3.

synonyms:
616901,
DEDSSH1,
developmental delay with short stature, dysmorphic facial features, and sparse hair 1,
DPH1 syndrome,
OMIM:616901,
Loucks-Innes syndrome

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

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