Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/618950
http://purl.bioontology.org/ontology/OMIM/618950
Preferred Name

SULEIMAN-EL-HATTAB SYNDROME
Synonyms
SULEHS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SULEHS
prefLabel
SULEIMAN-EL-HATTAB SYNDROME
Gene Symbol
C20orf13
SULEHS
TASP1
notation
618950
Scope Statement
Caused by mutation in the threonine aspartase 1 gene (TASP1, 608270.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Four unrelated patients have been reported (last curated July 2020) [MISCELLANEOUS]
Variable phenotype [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/MTHU047059
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU024403
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU000253
http://purl.bioontology.org/ontology/OMIM/MTHU004092
http://purl.bioontology.org/ontology/OMIM/MTHU066245
http://purl.bioontology.org/ontology/OMIM/MTHU006123
http://purl.bioontology.org/ontology/OMIM/MTHU036369
http://purl.bioontology.org/ontology/OMIM/MTHU004626
http://purl.bioontology.org/ontology/OMIM/MTHU036505
http://purl.bioontology.org/ontology/OMIM/MTHU000583
http://purl.bioontology.org/ontology/OMIM/MTHU000507
http://purl.bioontology.org/ontology/OMIM/MTHU002370
http://purl.bioontology.org/ontology/OMIM/MTHU015187
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU013743
http://purl.bioontology.org/ontology/OMIM/MTHU033526
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU008079
http://purl.bioontology.org/ontology/OMIM/MTHU014887
http://purl.bioontology.org/ontology/OMIM/MTHU032811
http://purl.bioontology.org/ontology/OMIM/MTHU000560
http://purl.bioontology.org/ontology/OMIM/MTHU071911
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU038541
http://purl.bioontology.org/ontology/OMIM/MTHU002478
http://purl.bioontology.org/ontology/OMIM/MTHU000389
http://purl.bioontology.org/ontology/OMIM/MTHU021640
http://purl.bioontology.org/ontology/OMIM/MTHU071913
http://purl.bioontology.org/ontology/OMIM/MTHU047775
http://purl.bioontology.org/ontology/OMIM/MTHU071912
http://purl.bioontology.org/ontology/OMIM/MTHU004166
http://purl.bioontology.org/ontology/OMIM/MTHU000577
http://purl.bioontology.org/ontology/OMIM/MTHU007070
http://purl.bioontology.org/ontology/OMIM/MTHU001611
http://purl.bioontology.org/ontology/OMIM/MTHU012450
http://purl.bioontology.org/ontology/OMIM/MTHU000324
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU003214
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU052238
http://purl.bioontology.org/ontology/OMIM/MTHU007266
http://purl.bioontology.org/ontology/OMIM/MTHU001330
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU007674
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU071910
http://purl.bioontology.org/ontology/OMIM/MTHU001853
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
20p12.1
tui
T047
cui
C5436458
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