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Ellis-Van Creveld Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D004613

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

Instance info

Synonyms

Mesoectodermal Dysplasias, Dysplasia, Ellis-Van Creveld, Ellis Van Creveld Dysplasia, Dysplasie, chondroektodermale (DE), Dysplasia, Chondroectodermal, Ellis-Van Creveld Dysplasia, Dysplasia, Mesoectodermal, Chondroectodermal Dysplasias, Chondroectodermal Dysplasia, Ellis Van Creveld Syndrome, Syndrome, Ellis-Van Creveld, Ellis-Van-Creveld-Syndrom (DE), Chondroektodermale Dysplasie (DE), Mesoectodermal Dysplasia

AN

do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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

19650101

HN

65(63)

MDA

19990101

MMR

20160120

MN

C05.116.099.708.327,C17.800.827.250.398,C16.131.077.350.398,C16.320.850.250.398,C16.131.831.350.398,C17.800.804.350.398

PM

65

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/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,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

RO

http://purl.bioontology.org/ontology/MESH/D002357

SIB

http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D015831,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D060048,http://purl.bioontology.org/ontology/MESH/D010026,http://purl.bioontology.org/ontology/MESH/D015826,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D006957,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D053359,http://purl.bioontology.org/ontology/MESH/D002973,http://purl.bioontology.org/ontology/MESH/D020083,http://purl.bioontology.org/ontology/MESH/D053549,http://purl.bioontology.org/ontology/MESH/D004687,http://purl.bioontology.org/ontology/MESH/D053358,http://purl.bioontology.org/ontology/MESH/D057767,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D002806,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D020752,http://purl.bioontology.org/ontology/MESH/D005357,http://purl.bioontology.org/ontology/MESH/D003966,http://purl.bioontology.org/ontology/MESH/D053360

TERMUI

T000892494,T841322,T014078,T014079

TH

GHR (2014),ORD (2010),OMIM (2013),UNK (19XX),NLM (1963)

cui

C0013903

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C537572,http://purl.bioontology.org/ontology/MESH/C537571,http://purl.bioontology.org/ontology/MESH/C566982

tui

T047

Instance relations

Types