Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

OPITZ-KAVEGGIA SYNDROME

Synonyms

FGS1

ID

http://purl.bioontology.org/ontology/OMIM/305450

altLabel

FGS1

FG SYNDROME 1

KELLER SYNDROME

MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM

FG SYNDROME

FGS

OKS

cui

C0220769

Gene Locus

Xq13

Gene Symbol

FGS1

MED12

HOPA

OHDOX

TNRC11

TRAP230

KIAA0192

OKS

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU036757

http://purl.bioontology.org/ontology/OMIM/MTHU004110

http://purl.bioontology.org/ontology/OMIM/MTHU004625

http://purl.bioontology.org/ontology/OMIM/MTHU015980

http://purl.bioontology.org/ontology/OMIM/MTHU007701

http://purl.bioontology.org/ontology/OMIM/MTHU007687

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU001907

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU004139

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU007697

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU037442

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU002047

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU007695

http://purl.bioontology.org/ontology/OMIM/MTHU007699

http://purl.bioontology.org/ontology/OMIM/MTHU007693

http://purl.bioontology.org/ontology/OMIM/MTHU004594

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU007231

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU036653

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU004160

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

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU007688

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU007700

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000580

http://purl.bioontology.org/ontology/OMIM/MTHU007694

http://purl.bioontology.org/ontology/OMIM/MTHU003865

http://purl.bioontology.org/ontology/OMIM/MTHU007698

http://purl.bioontology.org/ontology/OMIM/MTHU007692

http://purl.bioontology.org/ontology/OMIM/MTHU007690

http://purl.bioontology.org/ontology/OMIM/MTHU007696

http://purl.bioontology.org/ontology/OMIM/MTHU006883

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU003464

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

http://purl.bioontology.org/ontology/OMIM/MTHU001447

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU002185

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU028889

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU001099

http://purl.bioontology.org/ontology/OMIM/MTHU036366

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

305450

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

OPITZ-KAVEGGIA SYNDROME

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537923 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537923 Medical Subject Headings LOOM