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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/617595
http://purl.bioontology.org/ontology/OMIM/617595
Preferred Name

BIRK-LANDAU-PEREZ SYNDROME
Synonyms
BILAPES
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BILAPES
prefLabel
BIRK-LANDAU-PEREZ SYNDROME
Gene Symbol
BILAPES
C4orf1
HUEL
SLC30A9
notation
617595
Scope Statement
Not all patients develop renal insufficiency [MISCELLANEOUS]
Onset in first years of life after normal development [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
One consanguineous Saudi Arabian Bedouin family and 1 unrelated patient (Patient A) have been reported (last curated April 2022) [MISCELLANEOUS]
Caused by mutation in the solute carrier family 30 (zinc transporter), member 9 gene (SLC30A9, 604604.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000629
http://purl.bioontology.org/ontology/OMIM/MTHU039441
http://purl.bioontology.org/ontology/OMIM/MTHU036336
http://purl.bioontology.org/ontology/OMIM/MTHU000061
http://purl.bioontology.org/ontology/OMIM/MTHU036547
http://purl.bioontology.org/ontology/OMIM/MTHU004213
http://purl.bioontology.org/ontology/OMIM/MTHU050617
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU000628
http://purl.bioontology.org/ontology/OMIM/MTHU008212
http://purl.bioontology.org/ontology/OMIM/MTHU003009
http://purl.bioontology.org/ontology/OMIM/MTHU001903
http://purl.bioontology.org/ontology/OMIM/MTHU059362
http://purl.bioontology.org/ontology/OMIM/MTHU070468
http://purl.bioontology.org/ontology/OMIM/MTHU049055
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU004166
http://purl.bioontology.org/ontology/OMIM/MTHU055024
http://purl.bioontology.org/ontology/OMIM/MTHU001319
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU036949
http://purl.bioontology.org/ontology/OMIM/MTHU036844
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU000264
http://purl.bioontology.org/ontology/OMIM/MTHU059363
http://purl.bioontology.org/ontology/OMIM/MTHU001613
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU037031
http://purl.bioontology.org/ontology/OMIM/MTHU033186
http://purl.bioontology.org/ontology/OMIM/MTHU046398
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU059361
http://purl.bioontology.org/ontology/OMIM/MTHU059360
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
4p13
tui
T047
cui
C4539828
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