loading...| Preferred Name |
Wolman Disease |
| Synonyms |
Wolman's Disease |
| Definitions |
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. |
| ID |
http://purl.bioontology.org/ontology/MESH/D015223 |
| altLabel |
Wolman's Disease Xanthomatosis, Familial Xanthomatosis, Wolman's Familial Xanthomatoses Acid Lipase Deficiency Wolmans Disease Disease, Wolman's Xanthomatoses, Familial Wolman's Xanthomatosis Disease, Wolman Xanthomatosis, Wolmans Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type Liposomal Acid Lipase Deficiency, Wolman Type Xanthomatosis, Wolman Familial Xanthomatosis |
| 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 |
C0043208 |
| DC |
1 |
| definition |
The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. |
| DX |
19890101 |
| HN |
1989 |
| 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 |
1989 |
| Mapped from | |
| MDA |
19880512 |
| MMR |
20210701 |
| MN |
C16.614.947 C16.320.565.398.641.201.500 C18.452.648.595.201.500 C18.452.648.398.641.201.500 C16.320.565.595.201.500 C18.452.584.563.641.201.500 |
| notation |
D015223 |
| prefLabel |
Wolman Disease |
| TERMUI |
T842716 T842715 T044531 T044528 T044529 T044530 T750589 T645913 |
| TH |
UNK (19XX) NLM (1989) NLM (2010) NLM (2007) ORD (2010) GHR (2014) |
| tui |
T047 |
| subClassOf |