loading...| Preferred Name |
Peutz-Jeghers Syndrome |
|
| Synonyms |
Peutz-Jegher Syndrome |
|
| Definitions |
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D010580 |
|
| altLabel |
Peutz-Jegher Syndrome Syndromes, Polyps-and-Spots Syndrome, Peutz-Jeghers Syndromes, Periorificial Lentiginosis Perioral Lentiginosis Lentiginosis, Perioral Polyps-and-Spots Syndrome Polyposes, Hamartomatous Intestinal Polyposis, Peutz-Jeghers Peutz Jeghers Polyposis Perioral Lentiginoses Peutz-Jeghers Polyposis Hamartomatous Intestinal Polyposis Polyps-and-Spots Syndromes Intestinal Polyposis, Hamartomatous Hamartomatous Intestinal Polyposes Lentiginoses, Perioral Peutz Jegher's Syndrome Periorificial Lentiginosis Syndrome Syndrome, Polyps-and-Spots Peutz Jeghers Syndrome Polyposis, Hamartomatous Intestinal Polyps and Spots Syndrome Syndrome, Periorificial Lentiginosis Periorificial Lentiginosis Syndromes Peutz-Jegher's Syndrome Intestinal Polyposes, Hamartomatous Syndrome, Peutz-Jegher's |
|
| 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 |
C0031269 |
|
| DC |
1 |
|
| definition |
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits. |
|
| DX |
19650101 |
|
| HN |
65; was see under POLYPI (now POLYPS) 1963-64 |
|
| 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 |
|
| Machine permutation |
65; was see under POLYPI (now POLYPS) 1963-64 |
|
| MDA |
19990101 |
|
| MMR |
20180629 |
|
| MN |
C06.405.469.578.750 C17.800.621.430.530.550.625 C04.700.633 C16.320.700.667 |
|
| notation |
D010580 |
|
| prefLabel |
Peutz-Jeghers Syndrome |
|
| TERMUI |
T530205 T769777 T530204 T031235 T769778 T031236 T031234 |
|
| TH |
NLM (1965) OMIM (2013) NLM (2004) NLM (1993) UNK (19XX) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D007911 |