Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/603671
http://purl.bioontology.org/ontology/OMIM/603671
Preferred Name

ACROMELIC FRONTONASAL DYSOSTOSIS
Synonyms
AFND
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AFND
prefLabel
ACROMELIC FRONTONASAL DYSOSTOSIS
Gene Symbol
AFND
KIAA1577
NEDMAGA
ZSWIM6
notation
603671
Scope Statement
Brain anomalies variable [MISCELLANEOUS]
Caused by mutation in the zinc finger SWIM domain-containing protein 6 (ZSWIM6, 615951.0001) [MOLECULAR BASIS]
Some patients do not exhibit limb anomalies [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/MTHU045951
http://purl.bioontology.org/ontology/OMIM/MTHU037026
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU025369
http://purl.bioontology.org/ontology/OMIM/MTHU036427
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU068382
http://purl.bioontology.org/ontology/OMIM/MTHU025366
http://purl.bioontology.org/ontology/OMIM/MTHU068387
http://purl.bioontology.org/ontology/OMIM/MTHU068385
http://purl.bioontology.org/ontology/OMIM/MTHU068386
http://purl.bioontology.org/ontology/OMIM/MTHU006809
http://purl.bioontology.org/ontology/OMIM/MTHU004639
http://purl.bioontology.org/ontology/OMIM/MTHU008270
http://purl.bioontology.org/ontology/OMIM/MTHU068383
http://purl.bioontology.org/ontology/OMIM/MTHU007860
http://purl.bioontology.org/ontology/OMIM/MTHU042504
http://purl.bioontology.org/ontology/OMIM/MTHU013993
http://purl.bioontology.org/ontology/OMIM/MTHU061699
http://purl.bioontology.org/ontology/OMIM/MTHU025367
http://purl.bioontology.org/ontology/OMIM/MTHU025368
http://purl.bioontology.org/ontology/OMIM/MTHU036880
http://purl.bioontology.org/ontology/OMIM/MTHU045957
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU068384
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU045961
http://purl.bioontology.org/ontology/OMIM/MTHU045955
http://purl.bioontology.org/ontology/OMIM/MTHU045953
http://purl.bioontology.org/ontology/OMIM/MTHU007910
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU001153
http://purl.bioontology.org/ontology/OMIM/MTHU004110
http://purl.bioontology.org/ontology/OMIM/MTHU025370
http://purl.bioontology.org/ontology/OMIM/MTHU045950
http://purl.bioontology.org/ontology/OMIM/MTHU061698
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU045956
http://purl.bioontology.org/ontology/OMIM/MTHU045954
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU000266
http://purl.bioontology.org/ontology/OMIM/MTHU005671
http://purl.bioontology.org/ontology/OMIM/MTHU002500
http://purl.bioontology.org/ontology/OMIM/MTHU003098
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU045952
http://purl.bioontology.org/ontology/OMIM/MTHU012380
http://purl.bioontology.org/ontology/OMIM/MTHU002221
http://purl.bioontology.org/ontology/OMIM/MTHU068381
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU007891
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
5q12.1
tui
T047
cui
C1863616
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