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 63 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's subclass of is recorded as acrocephalosyndactylia[5].
- Saethre-Chotzen syndrome's subclass of is recorded as genetic disease[6].
- Saethre-Chotzen syndrome's subclass of is recorded as autosomal dominant disease[7].
- Saethre-Chotzen syndrome's subclass of is recorded as 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 OMIM ID is recorded as 101400[11].
- Saethre-Chotzen syndrome's ICD-10 ID is recorded as Q87.0[12].
- Saethre-Chotzen syndrome's DiseasesDB is recorded as 29331[13].
- Saethre-Chotzen syndrome's Freebase ID is recorded as /m/06x7f3[14].
- Saethre-Chotzen syndrome's KEGG ID is recorded as H01991[15].
- Saethre-Chotzen syndrome's ICPC 2 ID is recorded as A90[16].
- Saethre-Chotzen syndrome's GeneReviews ID is recorded as NBK1189[17].
- Saethre-Chotzen syndrome's Disease Ontology ID is recorded as DOID:14768[18].
- Saethre-Chotzen syndrome's symptoms and signs is recorded as craniosynostosis[19].
- Saethre-Chotzen syndrome's Orphanet ID is recorded as 794[20].
- Saethre-Chotzen syndrome's NCI Thesaurus ID is recorded as C75034[21].
- Saethre-Chotzen syndrome's health specialty is recorded as rheumatology[22].
- Saethre-Chotzen syndrome's genetic association is recorded as TWIST1[23].
- Saethre-Chotzen syndrome's genetic association is recorded as FGFR2[24].
- Saethre-Chotzen syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14768[25].
- Saethre-Chotzen syndrome's exact match is recorded as http://identifiers.org/doid/DOID:14768[26].
- Saethre-Chotzen syndrome's UMLS CUI is recorded as C0175699[27].
Why It Matters
Saethre-Chotzen syndrome draws 63 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.[28] It is known by 9 alternative names across languages and contexts.[29]