Acrocephalosyndactylia

Go to external page http://purl.bioontology.org/ontology/MESH/D000168


Congenital craniostenosis with syndactyly.

Instance info

Synonyms

Saethre Chotzen Syndrome, Acrocephalosyndactyly IIIs, Syndactylic Oxycephaly, Syndrome, Chotzen, Type III Acrocephalosyndactyly, Acrocephalosyndactyly, Type I, Saethre-Chotzen Syndrome, Acrocephalosyndactyly, Type V, Acrocephalosyndactylies, Type II, Syndrome, Apert, Apert Syndrome, Type V Acrocephalosyndactyly, Acrocephalosyndactylies, Type I, Type V Acrocephalosyndactylies, Acrocephalosyndactylias, Type II Acrocephalosyndactylies, Acrocephalosyndactyly III, Apert Crouzon Disease, Syndrome, Pfeiffer, Acrocephalosyndactylies, Type V, Apert-Syndrom (DE), Saethre-Chotzen Syndrom (DE), Dysostosis Craniofacialis with Hypertelorism, Acrocephalosyndactyly, Type 3, Akrozephalosyndaktylie (DE), Acrocephalosyndactyly, Type 1, Chotzen Syndrome, Disease, Apert-Crouzon, Acrocephalosyndactylies, Type 3, Noack Syndrome, Acrocephalosyndactylies, Type 1, Syndromes, Noack, Type I Acrocephalosyndactylies, Acrocephaly, Skull Asymmetry, and Mild Syndactyly, Kurczynski Casperson Syndrome, Syndrome, Noack, Pfeiffer Syndrome, Acrocephalosyndactyly, Type II, Acrocephalosyndactyly, Type III, Noack Syndromes, Type II Acrocephalosyndactyly, Syndactylic Oxycephalies, Syndrome, Kurczynski Casperson, Acrocephalosyndactyly (Apert), Type I Acrocephalosyndactyly, Apert-Crouzon Disease, Craniofacial-Skeletal-Dermatologic Dysplasia, Acrocephalosyndactylies, Type III, Pfeiffer-Syndrom (DE), Syndrome, Saethre-Chotzen

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

D051879,D051497

MDA

19990101

MMR

20160718

MN

C05.660.585.800.100,C05.660.207.240.100,C16.131.621.906.819.100,C05.116.099.370.894.819.100,C16.131.621.585.800.100,C05.660.906.819.100,C05.660.906.364.100,C16.131.621.207.240.100,C05.116.099.370.894.232.015,C16.131.621.906.364.100

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/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,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/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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,http://purl.bioontology.org/ontology/MESH/D051879

SIB

http://purl.bioontology.org/ontology/MESH/D011045,http://purl.bioontology.org/ontology/MESH/D058497

TERMUI

T843585,T808280,T782656,T782654,T782655,T769373,T812109,T769485,T769484,T811400,T840913,T769486,T812107,T823011,T000498,T000497,T823010,T000496,T842414,T000495

TH

GHR (2014),ORD (2010),OMIM (2013),NLM (1966),NLM (2011),UNK (19XX),NLM (2014),NLM (1997),NLM (2012)

cui

C0175699,C1510455,C0220658,C0001193,C1863389

hasSTY

http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C537183,http://purl.bioontology.org/ontology/MESH/C538142,http://purl.bioontology.org/ontology/MESH/C538582,http://purl.bioontology.org/ontology/MESH/C537227,http://purl.bioontology.org/ontology/MESH/C535578,http://purl.bioontology.org/ontology/MESH/C537300,http://purl.bioontology.org/ontology/MESH/C566327,http://purl.bioontology.org/ontology/MESH/C566325,http://purl.bioontology.org/ontology/MESH/C563187,http://purl.bioontology.org/ontology/MESH/C536023,http://purl.bioontology.org/ontology/MESH/C537287

tui

T019,T047

Instance relations

Types