loading...| Preferred Name |
Acrocephalosyndactylia |
|
| Synonyms |
Chotzen Syndrome |
|
| Definitions |
Congenital craniostenosis with syndactyly. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000168 |
|
| altLabel |
Chotzen Syndrome Acrocephalosyndactylies, Type II Pfeiffer Syndrome Acrocephalosyndactylies, Type III Acrocephalosyndactyly, Type I Acrocephalosyndactylies, Type I Type II Acrocephalosyndactyly Type III Acrocephalosyndactyly Acrocephalosyndactyly III Syndrome, Kurczynski Casperson Disease, Apert-Crouzon Acrocephalosyndactylies, Type 1 Acrocephaly, Skull Asymmetry, and Mild Syndactyly Syndrome, Saethre-Chotzen Syndactylic Oxycephaly Saethre-Chotzen Syndrome Saethre Chotzen Syndrome Syndromes, Noack Noack Syndrome Kurczynski Casperson Syndrome Acrocephalosyndactyly, Type III Acrocephalosyndactyly, Type 1 Acrocephalosyndactylias Syndactylic Oxycephalies Acrocephalosyndactylies, Type 3 Type V Acrocephalosyndactylies Acrocephalosyndactylies, Type V Acrocephalosyndactyly, Type II Type II Acrocephalosyndactylies Type I Acrocephalosyndactylies Apert Crouzon Disease Noack Syndromes Syndrome, Chotzen Apert Syndrome Craniofacial-Skeletal-Dermatologic Dysplasia Syndrome, Pfeiffer Acrocephalosyndactyly, Type 3 Syndrome, Apert Apert-Crouzon Disease Type I Acrocephalosyndactyly Dysostosis Craniofacialis with Hypertelorism Acrocephalosyndactyly, Type V Syndrome, Noack Type V Acrocephalosyndactyly Acrocephalosyndactyly IIIs Acrocephalosyndactyly (Apert) |
|
| 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 |
|
| cui |
C1863389 C0220658 C0175699 C1510455 C0001193 |
|
| DC |
1 |
|
| definition |
Congenital craniostenosis with syndactyly. |
|
| DX |
19660101 |
|
| FX |
D051497 D051879 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C535578 http://purl.bioontology.org/ontology/MESH/C537287 http://purl.bioontology.org/ontology/MESH/C538582 http://purl.bioontology.org/ontology/MESH/C537300 http://purl.bioontology.org/ontology/MESH/C563187 http://purl.bioontology.org/ontology/MESH/C538142 http://purl.bioontology.org/ontology/MESH/C566325 http://purl.bioontology.org/ontology/MESH/C566327 http://purl.bioontology.org/ontology/MESH/C537227 |
|
| MDA |
19990101 |
|
| MMR |
20160718 |
|
| MN |
C05.116.099.370.894.232.015 C16.131.621.585.800.100 C16.131.621.906.364.100 C05.116.099.370.894.819.100 C05.660.585.800.100 C05.660.207.240.100 C16.131.621.207.240.100 C05.660.906.819.100 C16.131.621.906.819.100 C05.660.906.364.100 |
|
| notation |
D000168 |
|
| prefLabel |
Acrocephalosyndactylia |
|
| TERMUI |
T782654 T782656 T823011 T840913 T842414 T769373 T808280 T000495 T782655 T812107 T000498 T769485 T812109 T000496 T811400 T823010 T000497 T843585 T769486 T769484 |
|
| TH |
NLM (1997) OMIM (2013) NLM (1966) NLM (2012) UNK (19XX) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 T019 |
|
| subClassOf |