COFS2

http://purl.bioontology.org/ontology/OMIM/610756

COFS2

C1853102

19q13.2-q13.3

EM9

ERCC2

XPD

TTD1

COFS2

http://purl.bioontology.org/ontology/OMIM/MTHU058780

http://purl.bioontology.org/ontology/OMIM/MTHU058775

http://purl.bioontology.org/ontology/OMIM/MTHU036340

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

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU002677

http://purl.bioontology.org/ontology/OMIM/MTHU058779

http://purl.bioontology.org/ontology/OMIM/MTHU004805

http://purl.bioontology.org/ontology/OMIM/MTHU001234

http://purl.bioontology.org/ontology/OMIM/MTHU043325

http://purl.bioontology.org/ontology/OMIM/MTHU058776

http://purl.bioontology.org/ontology/OMIM/MTHU058777

http://purl.bioontology.org/ontology/OMIM/MTHU004112

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU058778

http://purl.bioontology.org/ontology/OMIM/MTHU000064

Phenotype description, molecular basis known.

610756

3

pound

CEREBROOCULOFACIOSKELETAL SYNDROME 2

Based on report of 1 Ashkenazi Jewish boy (last curated July 2017) [MISCELLANEOUS]

Caused by mutation in the ERCC excision repair 2, TFIIH core complex helicase subunit gene (ERCC2, 126340.0009) [MOLECULAR BASIS]

Death in early childhood [MISCELLANEOUS]

T047