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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/305400
http://purl.bioontology.org/ontology/OMIM/305400
Preferred Name

AARSKOG-SCOTT SYNDROME
Synonyms
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
Type http://www.w3.org/2002/07/owl#Class

All Properties

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
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prefLabel
AARSKOG-SCOTT SYNDROME
Gene Symbol
FGD1
FGDY
AAS
MRXS16
notation
305400
Scope Statement
Caused by mutation in the faciogenital dysplasia gene (FGD1, 300546.0001) [MOLECULAR BASIS]
Normal fertility [MISCELLANEOUS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
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
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
Xp11.21
tui
T047
cui
C0175701
C1844569
C3275558
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