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Preferred Name

XFE PROGEROID SYNDROME
Synonyms

XPF-ERCC1 PROGEROID SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/610965
altLabel

XPF-ERCC1 PROGEROID SYNDROME

XFEPS
cui

C1970416
Gene Locus

16p13.3-p13.13
Gene Symbol

XPF

ERCC4

FANCQ

XFEPS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU000051

http://purl.bioontology.org/ontology/OMIM/MTHU001779

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU000581

http://purl.bioontology.org/ontology/OMIM/MTHU052717

http://purl.bioontology.org/ontology/OMIM/MTHU063740

http://purl.bioontology.org/ontology/OMIM/MTHU063746

http://purl.bioontology.org/ontology/OMIM/MTHU063744

http://purl.bioontology.org/ontology/OMIM/MTHU063738

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU063742

http://purl.bioontology.org/ontology/OMIM/MTHU037219

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU000149

http://purl.bioontology.org/ontology/OMIM/MTHU038541

http://purl.bioontology.org/ontology/OMIM/MTHU047423

http://purl.bioontology.org/ontology/OMIM/MTHU068812

http://purl.bioontology.org/ontology/OMIM/MTHU007700

http://purl.bioontology.org/ontology/OMIM/MTHU063739

http://purl.bioontology.org/ontology/OMIM/MTHU007935

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU063743

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU063737

http://purl.bioontology.org/ontology/OMIM/MTHU063741

http://purl.bioontology.org/ontology/OMIM/MTHU063747

http://purl.bioontology.org/ontology/OMIM/MTHU063745
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610965
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

XFE PROGEROID SYNDROME
Scope Statement

Based on a report of a 15-year-old boy of consanguineous Afghan parents (last curated February 2019) [MISCELLANEOUS]

Caused by mutation in the ERCC excision repair 4, endonuclease catalytic subunit gene (ERCC4, 133520.0003) [MOLECULAR BASIS]

Death at age 16 [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C173111 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/MESH/C567043 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C567043 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_0060590 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012590 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0012590 Experimental Factor Ontology / 实验性因素本体 LOOM