loading...| Preferred Name |
Prader-Willi Syndrome |
|
| Synonyms |
Royers Syndrome |
|
| Definitions |
An association of DIABETES MELLITUS with Prader-Willi Syndrome. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D011218 |
|
| altLabel |
Royers Syndrome Royer's Syndrome Labhart Willi Syndrome Syndrome, Royer's Prader Willi Syndrome Royer Syndrome Syndrome, Royer Prader-Labhart-Willi Syndrome Syndrome, Prader-Labhart-Willi Labhart-Willi-Prader-Fanconi Syndrome Labhart Willi Prader Fanconi Syndrome Labhart-Willi Syndrome Syndrome, Labhart-Willi-Prader-Fanconi Willi Prader Syndrome Syndrome, Willi-Prader Syndrome, Labhart-Willi Syndrome, Prader-Willi Willi-Prader Syndrome Prader Labhart Willi 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 |
C0265222 C0032897 |
|
| DC |
1 |
|
| definition |
An association of DIABETES MELLITUS with Prader-Willi Syndrome. An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) |
|
| DX |
19770101 |
|
| FX |
D008607 |
|
| HN |
1977 |
|
| 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 | ||
| Machine permutation |
1977 |
|
| Mapped from | ||
| MDA |
19760413 |
|
| MMR |
20230414 |
|
| MN |
C10.597.606.360.690 C18.654.726.750.500.740 C16.320.447.500 C16.131.077.730 C16.320.180.700 C16.131.260.700 |
|
| notation |
D011218 |
|
| prefLabel |
Prader-Willi Syndrome |
|
| TERMUI |
T369648 T811831 T033046 T369647 T752513 T752514 T369646 T369645 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1977) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009765 http://purl.bioontology.org/ontology/MESH/D000096803 http://purl.bioontology.org/ontology/MESH/D000015 |