Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Synonyms

ECCL
ID

http://purl.bioontology.org/ontology/OMIM/613001
altLabel

ECCL
cui

C0406612
Gene Locus

8p11.2-p11.1
Gene Symbol

FGFR1

FLT2

HH2

HRTFDS

ECCL

OGD

KAL2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU034022

http://purl.bioontology.org/ontology/OMIM/MTHU034024

http://purl.bioontology.org/ontology/OMIM/MTHU000061

http://purl.bioontology.org/ontology/OMIM/MTHU034026

http://purl.bioontology.org/ontology/OMIM/MTHU034025

http://purl.bioontology.org/ontology/OMIM/MTHU003988

http://purl.bioontology.org/ontology/OMIM/MTHU034039

http://purl.bioontology.org/ontology/OMIM/MTHU034015

http://purl.bioontology.org/ontology/OMIM/MTHU034019

http://purl.bioontology.org/ontology/OMIM/MTHU000697

http://purl.bioontology.org/ontology/OMIM/MTHU034030

http://purl.bioontology.org/ontology/OMIM/MTHU010004

http://purl.bioontology.org/ontology/OMIM/MTHU039299

http://purl.bioontology.org/ontology/OMIM/MTHU034037

http://purl.bioontology.org/ontology/OMIM/MTHU034011

http://purl.bioontology.org/ontology/OMIM/MTHU034031

http://purl.bioontology.org/ontology/OMIM/MTHU038117

http://purl.bioontology.org/ontology/OMIM/MTHU034027

http://purl.bioontology.org/ontology/OMIM/MTHU011989

http://purl.bioontology.org/ontology/OMIM/MTHU034018

http://purl.bioontology.org/ontology/OMIM/MTHU034033

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU034034

http://purl.bioontology.org/ontology/OMIM/MTHU034012

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU034021

http://purl.bioontology.org/ontology/OMIM/MTHU034036

http://purl.bioontology.org/ontology/OMIM/MTHU034014

http://purl.bioontology.org/ontology/OMIM/MTHU010488

http://purl.bioontology.org/ontology/OMIM/MTHU034016

http://purl.bioontology.org/ontology/OMIM/MTHU034010

http://purl.bioontology.org/ontology/OMIM/MTHU034017

http://purl.bioontology.org/ontology/OMIM/MTHU001611

http://purl.bioontology.org/ontology/OMIM/MTHU000241

http://purl.bioontology.org/ontology/OMIM/MTHU017161

http://purl.bioontology.org/ontology/OMIM/MTHU034038

http://purl.bioontology.org/ontology/OMIM/MTHU034029

http://purl.bioontology.org/ontology/OMIM/MTHU034040

http://purl.bioontology.org/ontology/OMIM/MTHU034020

http://purl.bioontology.org/ontology/OMIM/MTHU037811

http://purl.bioontology.org/ontology/OMIM/MTHU034035

http://purl.bioontology.org/ontology/OMIM/MTHU068967

http://purl.bioontology.org/ontology/OMIM/MTHU034013

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU036712

http://purl.bioontology.org/ontology/OMIM/MTHU016766

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU034032

http://purl.bioontology.org/ontology/OMIM/MTHU015907

http://purl.bioontology.org/ontology/OMIM/MTHU013074

http://purl.bioontology.org/ontology/OMIM/MTHU010502

http://purl.bioontology.org/ontology/OMIM/MTHU034028
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

613001
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Scope Statement

Caused by postzygotic somatic mutation of the fibroblast growth factor receptor 1 (FGFR1, 136350.0033) [MOLECULAR BASIS]
tui

T019
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