Saethre-Chotzen syndrome
acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull
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Saethre-Chotzen syndrome
Summary
Saethre-Chotzen syndrome is a rare disease[1]. It draws 42 Wikipedia views per month (rare_disease category, ranking #193 of 627).[2]
Key Facts
- Saethre-Chotzen syndrome's instance of is recorded as rare disease[3].
- Saethre-Chotzen syndrome's instance of is recorded as class of disease[4].
- Saethre-Chotzen syndrome is a type of acrocephalosyndactylia[5].
- Saethre-Chotzen syndrome is a type of genetic disease[6].
- Saethre-Chotzen syndrome is a type of autosomal dominant disease[7].
- Saethre-Chotzen syndrome is a type of disease[8].
- Saethre-Chotzen syndrome's Commons category is recorded as Saethre-Chotzen syndrome[9].
- Saethre-Chotzen syndrome's said to be the same as is recorded as aurocephalosyndactyly[10].
- Saethre-Chotzen syndrome's ICPC 2 ID is recorded as A90[11].
- Saethre-Chotzen syndrome's symptoms and signs is recorded as craniosynostosis[12].
- Saethre-Chotzen syndrome's NCI Thesaurus ID is recorded as C75034[13].
- Saethre-Chotzen syndrome's health specialty is recorded as rheumatology[14].
- Saethre-Chotzen syndrome's genetic association is recorded as TWIST1[15].
- Saethre-Chotzen syndrome's genetic association is recorded as FGFR2[16].
- Saethre-Chotzen syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14768[17].
- Saethre-Chotzen syndrome's exact match is recorded as http://identifiers.org/doid/DOID:14768[18].
- Saethre-Chotzen syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
Saethre-Chotzen syndrome draws 42 Wikipedia views per month (rare_disease category, ranking #193 of 627).[2] It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[20] It is known by 9 alternative names across languages and contexts.[21]