loading...| Preferred Name |
Pelizaeus-Merzbacher Disease |
|
| Synonyms |
Pelizaeus Merzbacher Brain Sclerosis |
|
| Definitions |
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D020371 |
|
| altLabel |
Pelizaeus Merzbacher Brain Sclerosis Pelizaeus Merzbacher Sclerosis, Brain Adult Pelizaeus Merzbacher Disease Transitional Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Disease, Transitional Pelizaeus-Merzbacher Disease, Transitional Classic Pelizaeus Merzbacher Disease Atypical Pelizaeus-Merzbacher Disease Transitional Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher Disease, Classic Pelizaeus Merzbacher Disease, Classic Adult Pelizaeus-Merzbacher Disease Pelizaeus Merzbacher Disease Cockayne-Pelizaeus-Merzbacher Disease Atypical Pelizaeus Merzbacher Disease Pelizaeus-Merzbacher Disease, Adult Classic Pelizaeus-Merzbacher Disease Brain Pelizaeus-Merzbacher Sclerosis Pelizaeus Merzbacher Disease, Adult Leukodystrophy, Hypomyelinating, 1 Pelizaeus-Merzbacher Sclerosis, Brain Pelizaeus-Merzbacher Brain Sclerosis Cockayne Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Disease, Atypical Pelizaeus-Merzbacher Disease, Atypical Brain Sclerosis, Pelizaeus-Merzbacher |
|
| 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 |
C0751914 C0751918 C0751915 C0751917 C0205711 C0751916 |
|
| DC |
1 |
|
| definition |
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) |
|
| DX |
20000101 |
|
| FX |
D018991 |
|
| HN |
2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 |
|
| 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; see CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 |
|
| Mapped from | ||
| MDA |
19991104 |
|
| MMR |
20160226 |
|
| MN |
C16.320.322.906 C18.452.132.100.362.775 C10.314.400.775 C18.452.648.189.362.775 C10.228.140.163.100.362.775 C10.228.140.695.625.775 C16.320.565.189.362.775 |
|
| notation |
D020371 |
|
| prefLabel |
Pelizaeus-Merzbacher Disease |
|
| TERMUI |
T371439 T371435 T812088 T371438 T371437 T371436 T000892486 T000892487 T007436 T371434 T371433 T373230 T371440 |
|
| TH |
OMIM (2013) NLM (2000) UNK (19XX) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |