Medical Subject Headings

Last uploaded: November 5, 2019
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

http://purl.bioontology.org/ontology/MESH/D020752

http://purl.bioontology.org/ontology/MESH/D005128

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

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Delete Mapping To Ontology Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/136350 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/613001 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/613001 Online Mendelian Inheritance in Man LOOM