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DiGeorge Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D004062

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Instance info

Synonyms

Velo Cardio Facial Syndrome, Deletion 22q11.2 Syndrome, Syndrome, Sedlackova, Catch22, Chromosom-22q11.2-Deletionssyndrom (DE), Hypoplasie von Thymus und Parathyreoidea (DE), Sedlackova Syndrome, Di-George-Syndrom (DE), Syndrome, VCF, Autosomal Dominant Opitz G Bbb Syndrome, DiGeorge Sequence, Conotruncal Anomaly Face Syndrome, Velo-kardio-faziales Syndrom (DE), Third and Fourth Pharyngeal Pouch Syndrome, Hypoplasia of Thymus and Parathyroids, Shprintzen VCF Syndrome, Conotruncal Anomaly Face Syndrome (CTAF), DiGeorge Anomaly, Velo-Cardio-Facial Syndrome, Deletion Syndrome, 22q11.2, Familial Third and Fourth Pharyngeal Pouch Syndrome, Autosomal Dominant Opitz G-Bbb Syndrome, Syndrome, DiGeorge, Syndrome, Shprintzen, Syndrome, Velo-Cardio-Facial, Velokardiofaziales Syndrom (DE), 22q11.2 Deletion Syndrome, VCF Syndrome, Velocardiofacial Syndrome, Pharyngeal Pouch Syndrome, Shprintzen Syndrome, Thymic Aplasia Syndrome, 22q11.2DS, Syndrome, Velocardiofacial

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

19910101

FX

D062507

HN

91(77); was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90

MDA

19760416

MMR

20130708

MN

C16.320.180.019.500,C19.642.482.500.500,C14.280.400.044.500,C15.604.451.249.500,C16.131.240.400.021.500,C16.131.260.019.500,C16.131.482.249.500,C05.660.207.103.500,C16.131.621.207.103.500,C16.131.077.019.500,C14.240.400.021.500

PM

91; was see under IMMUNOLOGIC DEFICIENCY SYNDROMES 1977-90

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,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/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

RO

http://purl.bioontology.org/ontology/MESH/D062507

TERMUI

T843596,T824229,T843595,T824228,T843594,T764159,T012337,T764158,T757850,T614250,T614251,T614252,T824232,T824231,T824230,T764163,T764162,T840753,T764161,T840751,T764160

TH

GHR (2014),NLM (2006),ORD (2010),OMIM (2013),NLM (2011),NLM (1977),NLM (2013)

cui

C0795907,C0220704,C0012236

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C566051,http://purl.bioontology.org/ontology/MESH/C563337,http://purl.bioontology.org/ontology/MESH/C567511,http://purl.bioontology.org/ontology/MESH/C567224

tui

T047

Instance relations

Types