Online Mendelian Inheritance in Man - ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/613001 http://purl.bioontology.org/ontology/OMIM/613001
Preferred Name	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Synonyms	ECCL
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ECCL
prefLabel	ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Gene Symbol	FGFR1 FLT2 HH2 HRTFDS ECCL OGD KAL2 See more See less
notation	613001
Scope Statement	Caused by postzygotic somatic mutation of the fibroblast growth factor receptor 1 (FGFR1, 136350.0033) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU005777
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T019
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	8p11.2-p11.1
tui	T019
cui	C0406612

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display