Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

LUJAN-FRYNS SYNDROME

Synonyms

MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

ID

http://purl.bioontology.org/ontology/OMIM/309520

altLabel

MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS

cui

C0796022

Gene Locus

Xq13

Gene Symbol

FGS1

MED12

HOPA

OHDOX

TNRC11

TRAP230

KIAA0192

OKS

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU037499

http://purl.bioontology.org/ontology/OMIM/MTHU005940

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

http://purl.bioontology.org/ontology/OMIM/MTHU006858

http://purl.bioontology.org/ontology/OMIM/MTHU000912

http://purl.bioontology.org/ontology/OMIM/MTHU001779

http://purl.bioontology.org/ontology/OMIM/MTHU002108

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

http://purl.bioontology.org/ontology/OMIM/MTHU002602

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU000583

http://purl.bioontology.org/ontology/OMIM/MTHU004645

http://purl.bioontology.org/ontology/OMIM/MTHU007292

http://purl.bioontology.org/ontology/OMIM/MTHU005403

http://purl.bioontology.org/ontology/OMIM/MTHU007298

http://purl.bioontology.org/ontology/OMIM/MTHU007296

http://purl.bioontology.org/ontology/OMIM/MTHU007300

http://purl.bioontology.org/ontology/OMIM/MTHU036357

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

http://purl.bioontology.org/ontology/OMIM/MTHU000191

http://purl.bioontology.org/ontology/OMIM/MTHU007294

http://purl.bioontology.org/ontology/OMIM/MTHU028929

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

http://purl.bioontology.org/ontology/OMIM/MTHU020477

http://purl.bioontology.org/ontology/OMIM/MTHU005815

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000710

http://purl.bioontology.org/ontology/OMIM/MTHU004560

http://purl.bioontology.org/ontology/OMIM/MTHU007289

http://purl.bioontology.org/ontology/OMIM/MTHU036338

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

http://purl.bioontology.org/ontology/OMIM/MTHU000248

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU001852

http://purl.bioontology.org/ontology/OMIM/MTHU036356

http://purl.bioontology.org/ontology/OMIM/MTHU007295

http://purl.bioontology.org/ontology/OMIM/MTHU007290

http://purl.bioontology.org/ontology/OMIM/MTHU007293

http://purl.bioontology.org/ontology/OMIM/MTHU007299

http://purl.bioontology.org/ontology/OMIM/MTHU007297

http://purl.bioontology.org/ontology/OMIM/MTHU007291

http://purl.bioontology.org/ontology/OMIM/MTHU028928

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU001164

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

309520

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

LUJAN-FRYNS SYNDROME

tui

T019

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537724 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537724 Medical Subject Headings LOOM