loading...| Preferred Name |
Mucopolysaccharidosis IV |
| Synonyms |
Galactosamine-6-Sulfatase Deficiency |
| 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 |
Galactosamine-6-Sulfatase Deficiency MPS IV B Morquios Disease Morquio Syndrome B IVs, Mucopolysaccharidosis Type Disease, Morquio's Morquio Syndromes Mucopolysaccharidosis Type IVB Deficiency, GALNS Mucopolysaccharidosis 4Bs Syndrome, Morquio Mucopolysaccharidosis Type IV B Eccentroosteochondrodysplasias Mucopolysaccharidosis 4B Morquio A Disease Morquio-B Disease Type IV, Mucopolysaccharidosis Syndrome, Morquio B Mucopolysaccharidosis Type IVs Disease, Morquio-B Morquio Disease Eccentroosteochondrodysplasia Eccentro-Osteochondrodysplasias Mucopolysaccharidosis Type IV Syndromes, Morquio Morquio's Disease Type B Deficiencies, Galactosamine-6-Sulfatase Disease, Morquio A IV, Mucopolysaccharidosis Type Eccentro-Osteochondrodysplasia Morquios Syndrome Mucopolysaccharidosis Type IVA Morquio Syndrome A Type IVs, Mucopolysaccharidosis Morquio Syndrome, Type B Mucopolysaccharidosis Type IV A Galactosamine-6-Sulfatase Deficiencies GALNS Deficiencies MPS IV A Syndrome, Morquio's MPS IVA Eccentro Osteochondrodysplasia Morquio B Syndrome Syndrome A, Morquio Morquio's Syndrome Mucopolysaccharidosis 4 Morquio Syndrome GALNS Deficiency Deficiencies, GALNS MPS IVB Disease, Morquio Deficiency, Galactosamine-6-Sulfatase Morquio's Disease Galactosamine 6 Sulfatase Deficiency Morquio B Disease Mucopolysaccharidosis Type IVBs |
| 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 C0086651 C0026707 |
| 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/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 |
| 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 |
C17.300.550.575.655 C16.320.565.202.715.655 C16.320.565.595.600.655 C18.452.648.595.600.655 C18.452.648.202.715.655 |
| notation |
D009085 |
| prefLabel |
Mucopolysaccharidosis IV |
| TERMUI |
T825072 T027152 T769317 T027157 T027158 T757855 T752829 T027156 T753473 T769316 T812017 T843593 T757857 T741078 T027155 T769315 T753472 T757856 T027154 T769314 T757858 T843592 T027153 T783000 T752828 T769313 T753470 |
| TH |
NLM (2011) UNK (19XX) NLM (1992) NLM (1966) NLM (2010) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |