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loading...| Preferred Name |
Encephalocraniocutaneous lipomatosis |
|
| Synonyms |
Fishman syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535736 |
|
| altLabel |
Fishman syndrome |
|
| cui |
C0406612 |
|
| HM |
D005128 D020752 D008068 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D020752 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
47 |
|
| MMR |
20151110 |
|
| notation |
C535736 |
|
| prefLabel |
Encephalocraniocutaneous lipomatosis |
|
| SC |
3 |
|
| Scope Statement |
A neurocutaneous disorder that occurs as isolated cases. It is characterized by ocular anomalies, skin lesions, and central nervous system anomalies. OMIM: 613001 |
|
| TERMUI |
T737039 T737037 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T019 |
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