loading...| Preferred Name |
Mandibulofacial Dysostosis |
|
| Synonyms |
Dysostosis, Mandibulofacial (MFD1) Dysostoses, Mandibulofacial |
|
| Definitions |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D008342 |
|
| altLabel |
Dysostosis, Mandibulofacial (MFD1) Mandibulofacial Dysostoses (MFD1) Syndromes, Franceschetti-Zwahlen-Klein Syndrome, Treacher Collins-Franceschetti Franceschetti-Zwahlen-Klein Syndromes Syndrome, Treacher Collins Mandibulofacial Dysostosis (MFD1) Franceschetti Zwahlen Klein Syndrome MFD1 Mandibulofacial Dysostosis Dysostoses, Mandibulofacial (MFD1) Franceschetti-Zwahlen-Klein Syndrome Treacher Collins Franceschetti Syndrome Mandibulofacial Dysostoses Syndromes, Treacher Collins-Franceschetti Mandibulofacial Dysostoses, MFD1 Dysostoses, MFD1 Mandibulofacial MFD1 Mandibulofacial Dysostoses Mandibulofacial Dysostosis, MFD1 Dysostosis, MFD1 Mandibulofacial Treacher Collins-Franceschetti Syndrome Treacher Collins-Franceschetti Syndromes Syndrome, Franceschetti-Zwahlen-Klein Dysostosis, Mandibulofacial Treacher Collins Syndrome Dysostoses, Mandibulofacial |
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| 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 |
C0242387 C5828530 |
|
| DC |
1 |
|
| definition |
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COLOBOMA of the lower lid, MICROGNATHIA and hypoplasia of the ZYGOMATIC ARCHES, and CONGENITAL MICROTIA. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) |
|
| DX |
19660101 |
|
| 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 |
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| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564267 http://purl.bioontology.org/ontology/MESH/C537102 http://purl.bioontology.org/ontology/MESH/C537680 http://purl.bioontology.org/ontology/MESH/C535676 http://purl.bioontology.org/ontology/MESH/C566345 http://purl.bioontology.org/ontology/MESH/C538183 http://purl.bioontology.org/ontology/MESH/C538186 http://purl.bioontology.org/ontology/MESH/C538182 http://purl.bioontology.org/ontology/MESH/C538184 http://purl.bioontology.org/ontology/MESH/C538185 http://purl.bioontology.org/ontology/MESH/C535713 http://purl.bioontology.org/ontology/MESH/C535707 http://purl.bioontology.org/ontology/MESH/C536311 |
|
| MDA |
19990101 |
|
| MMR |
20230531 |
|
| MN |
C05.116.099.370.231.576 C05.660.207.231.576 C11.270.147.750 C16.131.621.207.231.576 |
|
| notation |
D008342 |
|
| prefLabel |
Mandibulofacial Dysostosis |
|
| TERMUI |
T024848 T024849 T842599 T844088 T001137349 T812145 |
|
| TH |
OMIM (2013) NLM (1966) UNK (19XX) NLM (2024) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |