Pfeiffer syndrome
acrocephalosyndactylia that has material basis in mutations in the FGFR1 and FGFR2 gene which results in premature fusion located in skull
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Pfeiffer syndrome
Summary
Pfeiffer syndrome is a designated intractable/rare disease[1]. It has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Pfeiffer syndrome's instance of is recorded as designated intractable/rare disease[3].
- Pfeiffer syndrome's instance of is recorded as rare disease[4].
- Pfeiffer syndrome's instance of is recorded as class of disease[5].
- Pfeiffer syndrome's instance of is recorded as symptom or sign[6].
- Pfeiffer syndrome is a type of acrocephalosyndactylia[7].
- Pfeiffer syndrome is a type of genetic disease[8].
- Pfeiffer syndrome is a type of autosomal dominant disease[9].
- Pfeiffer syndrome is a type of disease[10].
- Pfeiffer syndrome's Commons category is recorded as Pfeiffer syndrome[11].
- Pfeiffer syndrome's ICPC 2 ID is recorded as A90[12].
- Pfeiffer syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4675[13].
- Pfeiffer syndrome's NCI Thesaurus ID is recorded as C99100[14].
- Pfeiffer syndrome's different from is recorded as infectious mononucleosis[15].
- Pfeiffer syndrome's health specialty is recorded as rheumatology[16].
- Pfeiffer syndrome's genetic association is recorded as FGFR2[17].
- Pfeiffer syndrome's genetic association is recorded as FGFR1[18].
- Pfeiffer syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14705[19].
- Pfeiffer syndrome's exact match is recorded as http://identifiers.org/doid/DOID:14705[20].
- Pfeiffer syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
Why It Matters
Pfeiffer syndrome has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[2]