loading...| Preferred Name |
Mucolipidoses |
| Synonyms |
Mucolipidoses, Type II |
| 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 |
Mucolipidoses, Type II Type II Mucolipidoses Glycoprotein Neuraminidase Deficiency Pseudo-Hurler Polydystrophy Type III Mucolipidoses Ganglioside Sialidase Deficiency Disease Inclusion Cell Diseases Polydystrophy, Pseudo-Hurler Mucolipidoses, Type IV Mucolipidosis, Type I Mucolipidosis, Type III Sialolipidosis Type IV Mucolipidoses I Cell Disease Mucolipidosis III Alpha Beta Myoclonus-Cherry Red Spot Syndrome Mucolipidosis Type IV Mucolipidosis Type II I-Cell Disease Type II Mucolipidosis Cherry Red Spot-Myoclonus Syndrome Mucolipidosis II Mucolipidosis I Inclusion Cell Disease Lipomucopolysaccharidosis Mucolipidosis Type III Glycoprotein Neuraminidase Deficiencies Sialidosis Cherry Red Spot Myoclonus Syndrome Mucolipidosis, Type IV Mucolipidoses, Type III Mucolipidosis, Type II Type IV Mucolipidosis Sialidoses Mucolipidosis Myoclonus Cherry Red Spot Syndrome Psuedo Hurler Disease Psuedo-Hurler Disease Mucolipidosis Type 1 Type I Mucolipidosis Mucolipidosis III Pseudo Hurler Polydystrophy Mucolipidosis IV Deficiency Disease, Ganglioside Sialidase Type I Mucolipidoses Mucolipidoses, Type I Sialolipidoses Deficiency, Glycoprotein Neuraminidase Lipomucopolysaccharidoses Psuedo-Hurler Diseases I-Cell Diseases Type III Mucolipidosis Deficiencies, Glycoprotein Neuraminidase Mucolipidosis Type I Mucolipidosis IIIa |
| 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 C0020725 C0023806 C0268226 C0026697 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/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 |
| Inverse of RO | |
| Machine permutation |
2000 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C567099 http://purl.bioontology.org/ontology/MESH/C565367 http://purl.bioontology.org/ontology/MESH/C537366 http://purl.bioontology.org/ontology/MESH/C538602 http://purl.bioontology.org/ontology/MESH/C537470 http://purl.bioontology.org/ontology/MESH/C567100 |
| MDA |
19760519 |
| MMR |
20160226 |
| MN |
C16.320.565.595.554.590 C05.116.198.371 C18.452.648.189.435.590 C10.228.140.163.100.435.590 C18.452.648.202.670 C18.452.132.100.435.590 C18.452.648.595.554.590 C16.320.565.202.670 C16.320.565.189.435.590 |
| notation |
D009081 |
| prefLabel |
Mucolipidoses |
| TERMUI |
T027139 T369540 T369527 T369530 T369529 T812132 T365788 T369532 T369536 T027137 T027140 T369534 T369538 T369528 T369522 T812179 T369526 T369524 T369525 T825264 T824106 T369535 T027138 T369539 T369531 T825263 T369537 T000888253 T751060 T369533 T369523 |
| TH |
NLM (1977) UNK (19XX) NLM (2016) NLM (2000) NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D002239 |