FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term poikiloderma with neutropenia ID (Ontology) DOID:0060551 (Human Disease)
Definition 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.
Also Known As "poikiloderma with neutropenia, Clericuzio type"
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 Genes
 poikiloderma with neutropenia       1
 for disease ribbon | poikiloderma with neutropenia       1
 model of | poikiloderma with neutropenia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
integumentary system disease     |
 |__skin disease_________________|
                                 poikiloderma with neutropenia  1 rec.
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Is a autosomal recessive disease
skin disease
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Synonyms
  • "poikiloderma with neutropenia, Clericuzio type" EXACT
Secondary IDs
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GARD:4085
ICD10CM:D82.8
MESH:C565820
MIM:604173
ORDO:221046