loading...| Preferred Name |
Mucolipidoses |
|
| Synonyms |
Cherry Red Spot-Myoclonus Syndrome |
|
| Definitions |
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009081 |
|
| altLabel |
Cherry Red Spot-Myoclonus Syndrome Psuedo-Hurler Disease Mucolipidosis Type IV Inclusion Cell Disease Mucolipidosis II Ganglioside Sialidase Deficiency Disease Mucolipidosis, Type III Type II Mucolipidosis Type III Mucolipidoses Myoclonus Cherry Red Spot Syndrome Psuedo Hurler Disease Type I Mucolipidoses Inclusion Cell Diseases Type IV Mucolipidoses Mucolipidoses, Type I I-Cell Diseases Psuedo-Hurler Diseases Mucolipidoses, Type II Mucolipidosis III Alpha Beta Mucolipidosis Type III Type II Mucolipidoses Glycoprotein Neuraminidase Deficiency Sialolipidosis Mucolipidoses, Type IV Glycoprotein Neuraminidase Deficiencies Deficiency, Glycoprotein Neuraminidase Polydystrophy, Pseudo-Hurler Mucolipidoses, Type III Mucolipidosis IIIa Mucolipidosis I Mucolipidosis Pseudo Hurler Polydystrophy Sialidosis Mucolipidosis Type II Type IV Mucolipidosis Mucolipidosis Type I Mucolipidosis, Type IV Deficiencies, Glycoprotein Neuraminidase Sialidoses Lipomucopolysaccharidoses Pseudo-Hurler Polydystrophy Type III Mucolipidosis Type I Mucolipidosis I-Cell Disease Mucolipidosis IV Mucolipidosis Type 1 I Cell Disease Mucolipidosis, Type I Deficiency Disease, Ganglioside Sialidase Sialolipidoses Mucolipidosis III Mucolipidosis, Type II Myoclonus-Cherry Red Spot Syndrome Lipomucopolysaccharidosis Cherry Red Spot Myoclonus 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 |
C0238286 C0026697 C0268226 C0023806 C0020725 C0033788 |
|
| DC |
1 |
|
| definition |
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7) |
|
| DX |
19770101 |
|
| FX |
D005733 |
|
| HN |
2000(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 |
2000 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538602 http://purl.bioontology.org/ontology/MESH/C562606 http://purl.bioontology.org/ontology/MESH/C567099 http://purl.bioontology.org/ontology/MESH/C537366 http://purl.bioontology.org/ontology/MESH/C537367 http://purl.bioontology.org/ontology/MESH/C537470 |
|
| MDA |
19760519 |
|
| MMR |
20160226 |
|
| MN |
C18.452.648.595.554.590 C18.452.648.189.435.590 C16.320.565.202.670 C05.116.198.371 C16.320.565.189.435.590 C18.452.132.100.435.590 C10.228.140.163.100.435.590 C16.320.565.595.554.590 C18.452.648.202.670 |
|
| notation |
D009081 |
|
| prefLabel |
Mucolipidoses |
|
| TERMUI |
T369525 T369532 T369535 T027140 T369531 T812179 T369537 T369528 T369526 T000888253 T027138 T369522 T369540 T824106 T027139 T369536 T369527 T751060 T812132 T369539 T369534 T825263 T369538 T369533 T369523 T027137 T369529 T369530 T365788 T369524 T825264 |
|
| TH |
NLM (2016) OMIM (2013) NLM (2000) NLM (1977) UNK (19XX) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D020140 |