loading...| Preferred Name |
Jacobsen Distal 11q Deletion Syndrome |
| Synonyms |
Paris-Trousseau Thrombocytopenia |
| Definitions |
A component of Jacobsen Syndrome linked to FLI1 gene at 11q23. |
| ID |
http://purl.bioontology.org/ontology/MESH/D054868 |
| altLabel |
Paris-Trousseau Thrombocytopenia Partial 11q Monosomy Syndrome Paris-Trousseau Type Thrombocytopenia 11q Deletion Disorder Jacobsen Thrombocytopenia Type Thrombocytopenia, Paris-Trousseau Deletion Disorder, 11q23 11q- Deletion Syndromes Thrombocytopenia, Paris-Trousseau Thrombocytopenia, Paris Trousseau Type 11q23 Deletion Disorder Thrombocytopenia, Paris-Trousseau Type Deletion Syndrome, 11q- Paris-Trousseau Syndrome Thrombocytopenia, Jacobsen 11q Deletion Syndrome Paris-Trousseau Type Thrombocytopenias Chromosome 11q Deletion Syndrome 11q Terminal Deletion Disorder Jacobsen Syndrome 11q- Deletion Syndrome Deletion Disorder, 11q Paris Trousseau Thrombocytopenia Paris Trousseau Syndrome |
| 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 |
C1956093 C0795841 |
| DC |
1 |
| definition |
A component of Jacobsen Syndrome linked to FLI1 gene at 11q23. A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia. |
| DX |
20080101 |
| HN |
2008 |
| 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 |
| Machine permutation |
2008 |
| MDA |
20070709 |
| MMR |
20180629 |
| MN |
C15.378.140.855.440 C16.131.260.440 C16.320.180.440 |
| notation |
D054868 |
| prefLabel |
Jacobsen Distal 11q Deletion Syndrome |
| TERMUI |
T841783 T694908 T695233 T695231 T695232 T782121 T694911 T782122 T694909 T807847 T694910 T696318 T694912 |
| TH |
NLM (2008) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |