Antley-Bixler syndrome
autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene
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Antley-Bixler syndrome
Summary
Antley-Bixler syndrome is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Antley-Bixler syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Antley-Bixler syndrome's instance of is recorded as designated intractable/rare disease[4].
- Antley-Bixler syndrome's instance of is recorded as rare disease[5].
- Antley-Bixler syndrome's instance of is recorded as class of disease[6].
- Antley-Bixler syndrome is a type of autosomal recessive disease[7].
- Antley-Bixler syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[8].
- Antley-Bixler syndrome is a type of syndromic craniosynostosis[9].
- Antley-Bixler syndrome's Commons category is recorded as Antley-Bixler syndrome[10].
- Antley-Bixler syndrome's symptoms and signs is recorded as craniosynostosis[11].
- Antley-Bixler syndrome's has cause is recorded as cytochrome P450 Oxidoreductase Deficiency[12].
- Antley-Bixler syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4669[13].
- Antley-Bixler syndrome's health specialty is recorded as medical genetics[14].
- Antley-Bixler syndrome's genetic association is recorded as FGFR2[15].
- Antley-Bixler syndrome's genetic association is recorded as POR[16].
- Antley-Bixler syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050462[17].
- Antley-Bixler syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0050462[18].
- Antley-Bixler syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_83[19].
- Antley-Bixler syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
Why It Matters
Antley-Bixler syndrome has Wikipedia articles in 8 language editions, a strong signal of global cultural recognition.[2] It is known by 15 alternative names across languages and contexts.[21]