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Dyskeratosis Congenita

Go to external page http://purl.bioontology.org/ontology/MESH/D019871

A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.

Instance info

Synonyms

Dyskeratosis Congenita, X Linked, X-Linked Dyskeratosis Congenita, Congenita, X-Linked Dyskeratosis, Dyskeratosis congenita, X-chromosomale (DE), Dyskeratosis congenita (DE), Zinsser Cole Engman Syndrome, Syndrome, Zinsser-Cole-Engman, X-Linked Dyskeratosis Congenitas, Zinsser-Cole-Engman Syndrome, Zinsser-Cole-Engman Syndrom (DE), Dyskeratosis Congenita, X-Linked

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19980101

HN

98

MDA

19970620

MMR

20150618

MN

C16.320.322.108,C17.800.827.235,C16.131.831.150,C17.800.804.150,C16.320.850.235

PM

98

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D058540,http://purl.bioontology.org/ontology/MESH/D053529,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D019339,http://purl.bioontology.org/ontology/MESH/D016506,http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D004476,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D056830,http://purl.bioontology.org/ontology/MESH/D053560,http://purl.bioontology.org/ontology/MESH/D006015,http://purl.bioontology.org/ontology/MESH/D016111,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D057088,http://purl.bioontology.org/ontology/MESH/D007184,http://purl.bioontology.org/ontology/MESH/D016114,http://purl.bioontology.org/ontology/MESH/D012593,http://purl.bioontology.org/ontology/MESH/D016112,http://purl.bioontology.org/ontology/MESH/D016113,http://purl.bioontology.org/ontology/MESH/D020371,http://purl.bioontology.org/ontology/MESH/D017092,http://purl.bioontology.org/ontology/MESH/D004820,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D055534,http://purl.bioontology.org/ontology/MESH/D053632,http://purl.bioontology.org/ontology/MESH/D055653,http://purl.bioontology.org/ontology/MESH/D056266,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D017094,http://purl.bioontology.org/ontology/MESH/D014983,http://purl.bioontology.org/ontology/MESH/D008065,http://purl.bioontology.org/ontology/MESH/D017499,http://purl.bioontology.org/ontology/MESH/D007057,http://purl.bioontology.org/ontology/MESH/D015794,http://purl.bioontology.org/ontology/MESH/D011038,http://purl.bioontology.org/ontology/MESH/D013734,http://purl.bioontology.org/ontology/MESH/D004535,http://purl.bioontology.org/ontology/MESH/D053307,http://purl.bioontology.org/ontology/MESH/D056734,http://purl.bioontology.org/ontology/MESH/D056733,http://purl.bioontology.org/ontology/MESH/D056732,http://purl.bioontology.org/ontology/MESH/D020388,http://purl.bioontology.org/ontology/MESH/D007645,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D000417,http://purl.bioontology.org/ontology/MESH/D020389,http://purl.bioontology.org/ontology/MESH/D007644,http://purl.bioontology.org/ontology/MESH/D056770,http://purl.bioontology.org/ontology/MESH/D011561,http://purl.bioontology.org/ontology/MESH/D003483,http://purl.bioontology.org/ontology/MESH/D038901,http://purl.bioontology.org/ontology/MESH/D003876,http://purl.bioontology.org/ontology/MESH/D000169,http://purl.bioontology.org/ontology/MESH/D056889,http://purl.bioontology.org/ontology/MESH/D052120,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D054463,http://purl.bioontology.org/ontology/MESH/D057770

TERMUI

T444284,T059168,T059169

TH

GHR (2014),OMIM (2013),NLM (1998),NLM (2002)

cui

C0265965,C1148551

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C536068,http://purl.bioontology.org/ontology/MESH/C565611,http://purl.bioontology.org/ontology/MESH/C565079

tui

T047

Instance relations

Types