poikiloderma with neutropenia

poikiloderma with neutropenia

http://purl.obolibrary.org/obo/DOID_0060551

A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/20734427 ]

Synonyms: poikiloderma with neutropenia, Clericuzio type

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This is just here as a test because I lose it

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database cross reference

ORDO:221046
MIM:604173
MESH:C565820
ICD10CM:D82.8
GARD:4085

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DO_rare_slim

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disease_ontology

DOID:0060551

Term relations

Subclass of:

autosomal recessive disease
skin disease
has material basis in some autosomal recessive inheritance