ZFIN Human Disease: poikiloderma with neutropenia

OBO ID: DOID:0060551

Term Name:	poikiloderma with neutropenia		Search Ontology:
Synonyms:
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. https://www.ncbi.nlm.nih.gov/pubmed/20734427
References:	GARD:4085 ICD10CM:D82.8 MESH:C565820 OMIM:604173 ORDO:221046
Ontology:	Human Disease ( DOID:0060551 )

Relationships

is a type of:	autosomal recessive disease skin disease autosomal recessive disease skin disease Show first 5 Terms

OTHER poikiloderma with neutropenia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
USB1	usb1	Poikiloderma with neutropenia	604173

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO1-usb1	standard conditions	Patil et al., 2015
AB + MO2-usb1	standard conditions	Patil et al., 2015
AB + MO3-usb1	control	Colombo et al., 2015

PHENOTYPE No data available

CITATIONS (2)