Rothmund-Thomson syndrome type 2
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Rothmund-Thomson syndrome type 2
Summary
Rothmund-Thomson syndrome type 2 is a developmental defect during embryogenesis[1].
Key Facts
- Rothmund-Thomson syndrome type 2's instance of is recorded as developmental defect during embryogenesis[2].
- Rothmund-Thomson syndrome type 2's instance of is recorded as class of disease[3].
- Rothmund-Thomson syndrome type 2's subclass of is recorded as polymalformative genetic syndrome with increased risk of developing cancer[4].
- Rothmund-Thomson syndrome type 2's subclass of is recorded as Rothmund-Thomson syndrome[5].
- Rothmund-Thomson syndrome type 2's subclass of is recorded as disease with potential neoplastic degeneration associated with ocular features[6].
- Rothmund-Thomson syndrome type 2's OMIM ID is recorded as 268400[7].
- Rothmund-Thomson syndrome type 2's Orphanet ID is recorded as 221016[8].
- Rothmund-Thomson syndrome type 2's genetic association is recorded as RECQL4[9].
- Rothmund-Thomson syndrome type 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_221016[10].
- Rothmund-Thomson syndrome type 2's UMLS CUI is recorded as C5203410[11].
- Rothmund-Thomson syndrome type 2's ICD-10-CM is recorded as Q82.8[12].
- Rothmund-Thomson syndrome type 2's Mondo ID is recorded as MONDO_0016369[13].
- Rothmund-Thomson syndrome type 2's ICD-11 ID is recorded as 2111040755[14].
- Rothmund-Thomson syndrome type 2's UniProt disease ID is recorded as DI-02274[15].