JSON

poikiloderma with neutropenia

^ 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. [ DOID:0060551 PMID:20734427 ]

Term info

database cross reference
  • OMIM:604173 (Orphanet:221046/e)
  • GARD:0004085 (MONDO:equivalentTo)
  • DOID:0060551 (MONDO:equivalentTo)
  • Orphanet:221046 (OMIM:604173)
  • NCIT:C177535 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
PN [ OMIM:604173 MONDO:Lexical ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C177535, https://omim.org/entry/604173, http://purl.obolibrary.org/obo/Orphanet_221046, http://purl.obolibrary.org/obo/DOID_0060551

has exact synonym

poikiloderma with neutropenia, Clericuzio type, poikiloderma with neutropenia

has related synonym

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

id

MONDO:0011405