Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

AARSKOG-SCOTT SYNDROME

Synonyms

FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER

ID

http://purl.bioontology.org/ontology/OMIM/305400

altLabel

FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER

FACIOGENITAL DYSPLASIA

MRXS16

MENTAL RETARDATION, X-LINKED, SYNDROMIC 16

FGDY

AAS

FACIODIGITOGENITAL SYNDROME

AARSKOG SYNDROME, X-LINKED

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16

cui

C0175701

C1844569

C3275558

Gene Locus

Xp11.21

Gene Symbol

FGD1

FGDY

AAS

MRXS16

Has manifestation

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU006886

http://purl.bioontology.org/ontology/OMIM/MTHU026997

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU007707

http://purl.bioontology.org/ontology/OMIM/MTHU007706

http://purl.bioontology.org/ontology/OMIM/MTHU007709

http://purl.bioontology.org/ontology/OMIM/MTHU037450

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU036505

http://purl.bioontology.org/ontology/OMIM/MTHU002078

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

http://purl.bioontology.org/ontology/OMIM/MTHU007702

http://purl.bioontology.org/ontology/OMIM/MTHU007711

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002570

http://purl.bioontology.org/ontology/OMIM/MTHU004811

http://purl.bioontology.org/ontology/OMIM/MTHU000073

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

http://purl.bioontology.org/ontology/OMIM/MTHU004397

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

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU007713

http://purl.bioontology.org/ontology/OMIM/MTHU005669

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

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU007708

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

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU007710

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

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU007705

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

http://purl.bioontology.org/ontology/OMIM/MTHU004091

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

305400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

AARSKOG-SCOTT SYNDROME

Scope Statement

Caused by mutation in the faciogenital dysplasia gene (FGD1, 300546.0001) [MOLECULAR BASIS]

Normal fertility [MISCELLANEOUS]

tui

T047

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