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/D008068 |
MDA |
20100825 |
MeSH Frequency |
26 |
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 |
ORD (2010) OMIM (2013) |
tui |
T019 |