loading...| Preferred Name |
Mucopolysaccharidosis IV |
|
| Synonyms |
Syndrome, Morquio |
|
| Definitions |
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D009085 |
|
| altLabel |
Syndrome, Morquio Morquio Syndromes Disease, Morquio-B Galactosamine-6-Sulfatase Deficiency Mucopolysaccharidosis 4Bs Mucopolysaccharidosis Type IVs Disease, Morquio's Syndrome A, Morquio Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV Syndrome, Morquio B Eccentroosteochondrodysplasia Disease, Morquio A Morquio B Disease Syndromes, Morquio MPS IVB Morquios Disease Mucopolysaccharidosis Type IVB Morquio's Syndrome Morquios Syndrome Mucopolysaccharidosis Type IVBs Syndrome, Morquio's Morquio Syndrome A Type IVs, Mucopolysaccharidosis Morquio Syndrome B Morquio's Disease Type B Eccentro-Osteochondrodysplasia Mucopolysaccharidosis Type IVA Morquio's Disease Eccentro Osteochondrodysplasia Galactosamine 6 Sulfatase Deficiency Morquio B Syndrome Morquio Disease Eccentroosteochondrodysplasias Deficiencies, GALNS Deficiency, Galactosamine-6-Sulfatase Morquio Syndrome, Type B GALNS Deficiency Deficiencies, Galactosamine-6-Sulfatase IV, Mucopolysaccharidosis Type MPS IV A Deficiency, GALNS Morquio-B Disease MPS IVA Eccentro-Osteochondrodysplasias GALNS Deficiencies Mucopolysaccharidosis 4B Type IV, Mucopolysaccharidosis Galactosamine-6-Sulfatase Deficiencies Mucopolysaccharidosis Type IV B IVs, Mucopolysaccharidosis Type Disease, Morquio Morquio Syndrome Morquio A Disease Mucopolysaccharidosis Type IV A MPS IV B |
|
| 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 |
C3179194 C0086652 C0026707 C0086651 |
|
| DC |
1 |
|
| definition |
Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. |
|
| DX |
19920101 |
|
| HN |
1992; use MUCOPOLYSACCHARIDOSIS 4 1980-1991, use ECCENTROOSTEOCHONDRODYSPLASIA 1963-1979; for MORQUIO'S DISEASE use MUCOPOLYSACCHARIDOSIS 4 1980-1991 |
|
| 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 |
1992; see MUCOPOLYSACCHARIDOSIS 4 1980-1991, see ECCENTROOSTEOCHONDRODYSPLASIA 1963-1979; MORQUIO'S DISEASE was MORQUIO DISEASE see MUCOPOLYSACCHARIDOSIS 4 1980-1991 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C18.452.648.595.600.655 C16.320.565.202.715.655 C16.320.565.595.600.655 C18.452.648.202.715.655 C17.300.550.575.655 |
|
| notation |
D009085 |
|
| prefLabel |
Mucopolysaccharidosis IV |
|
| TERMUI |
T783000 T027158 T027152 T769316 T752829 T769313 T812017 T027154 T027153 T843592 T843593 T769317 T753470 T825072 T027157 T741078 T757856 T757857 T769314 T753473 T757858 T753472 T752828 T027156 T027155 T769315 T757855 |
|
| TH |
OMIM (2013) NLM (1966) NLM (2012) NLM (1992) UNK (19XX) NLM (2010) GHR (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |