eedoh01

[IRF6-Related Conditions/IRF6]

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**Preferred gene-related syndrome label** IRF6 Related Conditions **Definition** Van der Woude syndrome, popliteal pterygium syndrome, cleft lip with or without palate, or a spectrum of one or two of those...

**Preferred gene-related syndrome label** PAX9-related selective tooth agenesis. **Synonyms** MONDO:0011477 **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO:0005486 **Definition** Please write the definition in the format: Any tooth...

**Preferred gene-related syndrome label** FGFR1-related osteoglophonic dysplasia **Synonyms** **Definition** Any osteoglophonic dysplasia in which the cause of the disease is a mutation in the FGFR1 gene. **Definition source (Please give...

**Preferred gene-related syndrome label** FGFR2-related Pfeiffer syndrome **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO:0007043 **Definition** Any Pfeiffer syndrome in which the cause of the disease is...

SMAD6 Related Disorder/SMAD6

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**Preferred gene-related syndrome label** SMAD6 Related Disorder **Synonyms** **Parent term (use [OLS](https://www.ebi.ac.uk/ols/ontologies/mondo), or your favorite ontology browser)** MONDO:0015469 **Definition** Please write the definition in the format: Any [parent class] in...