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 draws 1,241 Wikipedia views per month (designated_intractable_rare_disease category, ranking #30 of 201).[2]
Key Facts
- Pfeiffer syndrome's image is recorded as Pfeiffer's syndrome type II with cloverleaf shaped skull and bilateral proptosis.png[3].
- Pfeiffer syndrome's instance of is recorded as designated intractable/rare disease[4].
- Pfeiffer syndrome's instance of is recorded as rare disease[5].
- Pfeiffer syndrome's instance of is recorded as class of disease[6].
- Pfeiffer syndrome's instance of is recorded as symptom or sign[7].
- Pfeiffer syndrome's subclass of is recorded as acrocephalosyndactylia[8].
- Pfeiffer syndrome's subclass of is recorded as genetic disease[9].
- Pfeiffer syndrome's subclass of is recorded as autosomal dominant disease[10].
- Pfeiffer syndrome's subclass of is recorded as disease[11].
- Pfeiffer syndrome's Commons category is recorded as Pfeiffer syndrome[12].
- Pfeiffer syndrome's OMIM ID is recorded as 101600[13].
- Pfeiffer syndrome's DiseasesDB is recorded as 32145[14].
- Pfeiffer syndrome's Freebase ID is recorded as /m/09cqjr[15].
- Pfeiffer syndrome's KEGG ID is recorded as H01756[16].
- Pfeiffer syndrome's ICPC 2 ID is recorded as A90[17].
- Pfeiffer syndrome's GeneReviews ID is recorded as NBK1455[18].
- Pfeiffer syndrome's Disease Ontology ID is recorded as DOID:14705[19].
- Pfeiffer syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4675[20].
- Pfeiffer syndrome's Orphanet ID is recorded as 710[21].
- Pfeiffer syndrome's NCI Thesaurus ID is recorded as C99100[22].
- Pfeiffer syndrome's different from is recorded as infectious mononucleosis[23].
- Pfeiffer syndrome's health specialty is recorded as rheumatology[24].
- Pfeiffer syndrome's genetic association is recorded as FGFR2[25].
- Pfeiffer syndrome's genetic association is recorded as FGFR1[26].
- Pfeiffer syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14705[27].
Why It Matters
Pfeiffer syndrome draws 1,241 Wikipedia views per month (designated_intractable_rare_disease category, ranking #30 of 201).[2] It has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[28]