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DO Term : diphthamide deficiency syndrome 2 [DOID:0070478] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.

synonyms:
developmental delay with short stature, dysmorphic facial features, and sparse hair 2,
OMIM:620062,
620062,
DEDSSH2

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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