Terminology Service for NFDI4Health
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poikiloderma with neutropenia

Go to external page http://purl.obolibrary.org/obo/MONDO_0011405

A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. [ http://www.ncbi.nlm.nih.gov/pubmed/20734427 ]

Term info

Label

poikiloderma with neutropenia

Synonyms
  • poikiloderma with neutropenia
  • poikiloderma with neutropenia, Clericuzio type
database cross reference
Subsets

ordo_disease

exactMatch

https://omim.org/entry/604173, http://purl.obolibrary.org/obo/Orphanet_221046, http://purl.obolibrary.org/obo/DOID_0060551

has related synonym

poikiloderma with neutropenia, Clericuzio-type, poikiloderma with neutropenia Clericuzio type, Clericuzio type poikiloderma with neutropenia, PN

id

MONDO:0011405

narrowMatch

https://icd.codes/icd10cm/D82.8