Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1

Synonyms

AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER

ID

http://purl.bioontology.org/ontology/OMIM/300546

altLabel

AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER

MENTAL RETARDATION, X-LINKED, SYNDROMIC 16

AARSKOG-SCOTT SYNDROME

FGD1

cui

C0175701

C1414594

C3275558

C4016488

Gene Locus

Xp11.21

Gene Symbol

MRXS16

FGDY

AAS

FGD1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300546.0001

http://purl.bioontology.org/ontology/OMIM/300546.0003

http://purl.bioontology.org/ontology/OMIM/300546.0002

http://purl.bioontology.org/ontology/OMIM/300546.0010

http://purl.bioontology.org/ontology/OMIM/300546.0008

http://purl.bioontology.org/ontology/OMIM/300546.0007

http://purl.bioontology.org/ontology/OMIM/300546.0009

http://purl.bioontology.org/ontology/OMIM/300546.0011

http://purl.bioontology.org/ontology/OMIM/300546.0012

http://purl.bioontology.org/ontology/OMIM/300546.0004

http://purl.bioontology.org/ontology/OMIM/300546.0005

http://purl.bioontology.org/ontology/OMIM/300546.0006

MIMTYPEMEANING

Gene with known sequence

notation

300546

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

FYVE, RhoGEF, AND PH DOMAIN-CONTAINING PROTEIN 1

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/PR_000007473 Protein Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP35569-0 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C535331 Medical Subject Headings CUI