Jacobsen syndrome
multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.
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Jacobsen syndrome
Summary
Jacobsen syndrome is a rare disease[1]. It has Wikipedia articles in 11 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Jacobsen syndrome is credited with the discovery of Petra Jacobsen[3].
- Jacobsen syndrome's instance of is recorded as rare disease[4].
- Jacobsen syndrome's instance of is recorded as developmental defect during embryogenesis[5].
- Jacobsen syndrome's instance of is recorded as class of disease[6].
- Jacobsen syndrome's instance of is recorded as symptom or sign[7].
- Jacobsen syndrome is a type of syndromic constitutional thrombocytopenia[8].
- Jacobsen syndrome is a type of ptosis[9].
- Jacobsen syndrome is a type of partial deletion of the long arm of chromosome 11[10].
- Jacobsen syndrome is a type of chromosomal deletion syndrome[11].
- Jacobsen syndrome's Commons category is recorded as Jacobsen syndrome[12].
- Jacobsen syndrome's ICPC 2 ID is recorded as A90[13].
- Jacobsen syndrome's NCI Thesaurus ID is recorded as C75457[14].
- Jacobsen syndrome's health specialty is recorded as medical genetics[15].
- Jacobsen syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2308[16].
- Jacobsen syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111723[17].
- Jacobsen syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111723[18].
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Works and Contributions
Jacobsen syndrome is credited with the discovery of Petra Jacobsen[3].
Why It Matters
Jacobsen syndrome has Wikipedia articles in 11 language editions, a strong signal of global cultural recognition.[2] It is known by 20 alternative names across languages and contexts.[19]