Happle-Tinschert syndrome
MONDO:1030006Mondo
Findings
No curated finding names Happle-Tinschert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Happle-Tinschert syndrome (HTS) is a rare, sporadic, multisystem disorder characterized by hypo- and hyperpigmented skin patches following Blaschko's lines, plus acral skeletal and other abnormalities and is characterized by basaloid follicular hamartomas. HTS is caused by a postzygotic mutation in the SMO gene (c.1234C>T, p.Leu412Phe).
Definition from the Mondo Disease Ontology (MONDO:1030006), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: Happle-Tinschert syndrome
- Also called
- HTS