Disease #00526 (Pfeiffer (Pfeiffer syndrome), OMIM:101600)

Official abbreviation Pfeiffer
Name Pfeiffer syndrome
OMIM ID 101600
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 21
Phenotype entries for this disease 21
Associated with 2 genes FGFR1, FGFR2
Associated tissues -
Disease features -
Remarks -


Individuals

21 entries on 1 page. Showing entries 1 - 21.
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00017820 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00017821 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019774 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019784 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019785 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019786 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019787 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019800 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019801 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019802 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019803 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019804 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019805 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no (Spain) Morocco - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019806 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no (Spain) Morroco ? 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019807 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019808 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019809 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019810 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00019811 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - ? no Spain - - 0 - - Pfeiffer - FGFR2 FGFR2 1 1 Karen E. Heath
00284048 - PubMed: Robin 1993, PubMed: Roscioli 2000, PubMed: Muenke 1994, PubMed: Ibrahimi 2004, PubMed: Rajith 2013 - - - - - - 0 - - Pfeiffer - FGFR1 FGFR1 1 1 Global Variome, with Curator vacancy
00335045 - - - F yes Saudi Arabia - - - - - Pfeiffer - FGFR2 FGFR2 1 1 Malak Alghamdi
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