JSON

Craniofacial Dysostosis

Go to external page http://purl.bioontology.org/ontology/MESH/D003394

Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.

Instance info

Synonyms

Crouzons Disease, Crouzon Craniofacial Dysostosis, Craniofacial Dysostosis Syndrome, Morbus Crouzon (DE), Dysostosis cranio-facialis (DE), Craniofacial Dysostosis, Type I, Dysostosis craniofacialis (DE), Dysostosis craniofacialis Typ 1 (DE), Craniofacial Dysostosis Type 1, Dysarthroses, Craniofacial, Craniofacial Dysarthrosis, Crouzon Disease, Crouzon-Krankheit (DE), Craniofacial Dysostosis, Crouzon, Dysarthrosis, Craniofacial, Dysostoses, Craniofacial, Craniofacial Dysostoses, Craniofacial Dysarthroses, Crouzon Syndrome, Crouzon-Syndrom (DE), Dysostosis, Craniofacial, Crouzon's Disease, Craniofacial Dysostosis Syndromes

AN

"craniofacial dysmorphism" does not go here: index under FACIAL BONES / abnorm + SKULL / abnorm but not also ABNORMALITIES, MULTIPLE

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

19660101

FX

D051497

MDA

19990101

MMR

20160119

MN

C16.131.621.207.231,C05.660.207.231,C05.116.099.370.231

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/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/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/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/D051497

SIB

http://purl.bioontology.org/ontology/MESH/D058165,http://purl.bioontology.org/ontology/MESH/D019767,http://purl.bioontology.org/ontology/MESH/D058627,http://purl.bioontology.org/ontology/MESH/D010985,http://purl.bioontology.org/ontology/MESH/D012415,http://purl.bioontology.org/ontology/MESH/D002973,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D003398,http://purl.bioontology.org/ontology/MESH/D044542,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D008831,http://purl.bioontology.org/ontology/MESH/D056730,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D005489,http://purl.bioontology.org/ontology/MESH/D009634,http://purl.bioontology.org/ontology/MESH/D016142,http://purl.bioontology.org/ontology/MESH/D013580,http://purl.bioontology.org/ontology/MESH/D059041,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D007714

TERMUI

T841220,T811308,T009879,T841219,T782667,T009880,T782668,T782666,T009882,T009881

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (1966),UNK (19XX),NLM (2014),NLM (2012)

cui

C2931196,C0010273

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C536699,http://purl.bioontology.org/ontology/MESH/C567382,http://purl.bioontology.org/ontology/MESH/C536449,http://purl.bioontology.org/ontology/MESH/C537736,http://purl.bioontology.org/ontology/MESH/C537664,http://purl.bioontology.org/ontology/MESH/C563599,http://purl.bioontology.org/ontology/MESH/C562974,http://purl.bioontology.org/ontology/MESH/C537154,http://purl.bioontology.org/ontology/MESH/C536570,http://purl.bioontology.org/ontology/MESH/C535483,http://purl.bioontology.org/ontology/MESH/C536892,http://purl.bioontology.org/ontology/MESH/C536550

tui

T047

Instance relations

Types