loading...| Preferred Name |
Acrocephalosyndactylia |
| Synonyms |
Saethre Chotzen Syndrome |
| Definitions |
Congenital craniostenosis with syndactyly. |
| ID |
http://purl.bioontology.org/ontology/MESH/D000168 |
| altLabel |
Saethre Chotzen Syndrome Noack Syndrome Acrocephalosyndactylies, Type 1 Acrocephalosyndactylies, Type V Kurczynski Casperson Syndrome Syndrome, Chotzen Apert Syndrome Acrocephalosyndactyly, Type V Chotzen Syndrome Disease, Apert-Crouzon Type I Acrocephalosyndactylies Type V Acrocephalosyndactyly Syndromes, Noack Acrocephalosyndactylias Type V Acrocephalosyndactylies Type I Acrocephalosyndactyly Acrocephalosyndactyly (Apert) Apert-Crouzon Disease Acrocephalosyndactyly, Type 3 Acrocephalosyndactylies, Type I Acrocephalosyndactylies, Type II Pfeiffer Syndrome Noack Syndromes Craniofacial-Skeletal-Dermatologic Dysplasia Acrocephalosyndactyly, Type 1 Acrocephalosyndactyly III Apert Crouzon Disease Syndactylic Oxycephaly Dysostosis Craniofacialis with Hypertelorism Syndrome, Saethre-Chotzen Syndrome, Pfeiffer Saethre-Chotzen Syndrome Syndrome, Apert Syndrome, Noack Type II Acrocephalosyndactyly Syndactylic Oxycephalies Acrocephalosyndactyly, Type II Syndrome, Kurczynski Casperson Type II Acrocephalosyndactylies Acrocephalosyndactylies, Type III Acrocephalosyndactyly, Type III Acrocephalosyndactylies, Type 3 Type III Acrocephalosyndactyly Acrocephalosyndactyly, Type I Acrocephalosyndactyly IIIs Acrocephaly, Skull Asymmetry, and Mild Syndactyly |
| 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 |
C1510455 C0001193 C1863389 C0220658 C0175699 |
| DC |
1 |
| definition |
Congenital craniostenosis with syndactyly. |
| DX |
19660101 |
| FX |
D051497 D051879 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537227 http://purl.bioontology.org/ontology/MESH/C536023 http://purl.bioontology.org/ontology/MESH/C566327 http://purl.bioontology.org/ontology/MESH/C537287 http://purl.bioontology.org/ontology/MESH/C537300 http://purl.bioontology.org/ontology/MESH/C538142 http://purl.bioontology.org/ontology/MESH/C563187 http://purl.bioontology.org/ontology/MESH/C535578 http://purl.bioontology.org/ontology/MESH/C538582 |
| MDA |
19990101 |
| MMR |
20160718 |
| MN |
C05.660.585.800.100 C05.660.207.240.100 C16.131.621.207.240.100 C16.131.621.906.364.100 C05.660.906.364.100 C05.660.906.819.100 C16.131.621.906.819.100 C16.131.621.585.800.100 C05.116.099.370.894.819.100 C05.116.099.370.894.232.015 |
| notation |
D000168 |
| prefLabel |
Acrocephalosyndactylia |
| TERMUI |
T782655 T000498 T823011 T769484 T840913 T808280 T782656 T812109 T812107 T769486 T842414 T000497 T843585 T000495 T782654 T811400 T823010 T769373 T769485 T000496 |
| TH |
NLM (2011) UNK (19XX) NLM (1966) NLM (2014) NLM (2012) ORD (2010) NLM (1997) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |
| subClassOf |