Disease #01700 (xanthomatosis, cerebrotendinous, OMIM:213700)

Official abbreviation -
Name xanthomatosis, cerebrotendinous
OMIM ID 213700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 102
Phenotype entries for this disease 0
Associated with 1 gene CYP27A1
Associated tissues -
Disease features -
Remarks -


Individuals

102 entries on 2 pages. Showing entries 1 - 100.
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00286932 - PubMed: Segev 1995 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286933 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286934 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 3 1 Jorge Amigo Lechuga
00286935 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 3 1 Jorge Amigo Lechuga
00286936 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286937 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286938 - {PMID 22018287: Tian 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286939 - - - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Susan V Smalley
00286940 - PubMed: Wang 2006 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286941 - {PMID 21553098: Chen 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286942 - PubMed: Leitersdorf 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286943 - PubMed: Leitersdorf 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286944 - PubMed: Leitersdorf 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286945 - PubMed: Leitersdorf 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286946 - PubMed: Kato 2003 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286947 - PubMed: Verrips 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286948 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286949 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286950 - PubMed: Watts 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286951 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286952 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286953 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286954 - PubMed: Nakashima 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286955 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286956 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286957 - {PMID 20558929: Nozue 2010} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286958 - PubMed: Federico 2010 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286959 - PubMed: Lamon-Fava 2002 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 3 1 Jorge Amigo Lechuga
00286960 - PubMed: Verrips 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286961 - PubMed: Verrips 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286962 - PubMed: Wakamatsu 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286963 - PubMed: Garuti 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286964 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286965 - PubMed: Garuti 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286966 - PubMed: Garuti 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286967 - PubMed: Federico 2010 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286968 - PubMed: Garuti 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286969 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286970 - PubMed: Federico 2010 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286971 - PubMed: Federico 2010 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286972 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286973 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286974 - PubMed: Ahmed 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286975 - PubMed: Leitersdorf 1993 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286976 - PubMed: Leitersdorf 1993 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286977 - PubMed: Verrips 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286978 - PubMed: Verrips 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286979 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286980 - PubMed: Leitersdorf 1993 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286981 - PubMed: Meiner 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286982 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286983 - PubMed: Federico 2010 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286984 - PubMed: Reshef 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286985 - PubMed: Verrips 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286986 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286987 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00286988 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286989 - PubMed: Verrips 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286990 - PubMed: Verrips 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286991 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286992 - PubMed: Guyant-Maréchal 2005 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00286993 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286995 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286996 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00286997 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Pablo Sierra
00286998 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Pablo Sierra
00286999 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287000 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287001 - {PMID 21958693: Suh 2012} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287002 - {PMID 21958693: Suh 2012} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287003 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287004 - PubMed: Chen 1998 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287005 - PubMed: Cali 1991 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287006 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287007 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287008 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287009 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287010 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287011 - PubMed: Castelnovo 2003 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287012 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287013 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287014 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287015 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287016 - {PMID 21645175: De la Fuente 2011} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287017 - PubMed: Chen 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287018 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287019 - PubMed: Garuti 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287020 - PubMed: Mak 2004 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287021 - PubMed: Okuyama 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287022 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287023 - PubMed: Chen 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287024 - PubMed: von Bahr 2005 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287025 - {PMID 22336472: Koyama 2012} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287026 - PubMed: Garuti 1996 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287027 - PubMed: Verrips 2000 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287028 - PubMed: Garuti 1997 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287029 - {PMID 20925952: Schneider 2010} - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Pablo Sierra
00287030 - PubMed: Lee 2001 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 2 1 Jorge Amigo Lechuga
00287031 - PubMed: Kim 1994 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
00287032 - PubMed: Wakamatsu 1999 - - - - - - 0 - - xanthomatosis, cerebrotendinous - CYP27A1 CYP27A1 1 1 Jorge Amigo Lechuga
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