ZFIN Human Disease: XFE progeroid syndrome

OBO ID: DOID:0060590

Term Name:	XFE progeroid syndrome		Search Ontology:
Synonyms:	XFEPS XPF-ERCC1 progeroid syndrome
Definition:	A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/17183314
References:	GARD:10628 MESH:C567043 OMIM:610965
Ontology:	Human Disease ( DOID:0060590 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ERCC4	ercc4	XFE progeroid syndrome	610965

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None