Online Mendelian Inheritance in Man - GENITOPATELLAR SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/606170 http://purl.bioontology.org/ontology/OMIM/606170
Preferred Name	GENITOPATELLAR SYNDROME
Synonyms	GTPTS ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GTPTS ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM, AND MENTAL RETARDATION
prefLabel	GENITOPATELLAR SYNDROME
Gene Symbol	MORF GTPTS KAT6B MYST4
notation	606170
Scope Statement	Caused by mutation in the K(lysine) acetyltransferase 6B gene (KAT6B, 605880.0005) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004114 http://purl.bioontology.org/ontology/OMIM/MTHU003188 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU010006 http://purl.bioontology.org/ontology/OMIM/MTHU003751 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU004113 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU001852 http://purl.bioontology.org/ontology/OMIM/MTHU020314 http://purl.bioontology.org/ontology/OMIM/MTHU004127 http://purl.bioontology.org/ontology/OMIM/MTHU004121 http://purl.bioontology.org/ontology/OMIM/MTHU004564 http://purl.bioontology.org/ontology/OMIM/MTHU013226 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU004117 http://purl.bioontology.org/ontology/OMIM/MTHU004122 http://purl.bioontology.org/ontology/OMIM/MTHU036424 http://purl.bioontology.org/ontology/OMIM/MTHU004110 http://purl.bioontology.org/ontology/OMIM/MTHU004120 http://purl.bioontology.org/ontology/OMIM/MTHU036439 http://purl.bioontology.org/ontology/OMIM/MTHU001429 http://purl.bioontology.org/ontology/OMIM/MTHU001611 http://purl.bioontology.org/ontology/OMIM/MTHU006492 http://purl.bioontology.org/ontology/OMIM/MTHU004126 http://purl.bioontology.org/ontology/OMIM/MTHU007201 http://purl.bioontology.org/ontology/OMIM/MTHU036339 http://purl.bioontology.org/ontology/OMIM/MTHU004119 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU022327 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU000260 http://purl.bioontology.org/ontology/OMIM/MTHU001976 http://purl.bioontology.org/ontology/OMIM/MTHU022325 http://purl.bioontology.org/ontology/OMIM/MTHU004125 http://purl.bioontology.org/ontology/OMIM/MTHU003771 http://purl.bioontology.org/ontology/OMIM/MTHU022326 http://purl.bioontology.org/ontology/OMIM/MTHU037360 http://purl.bioontology.org/ontology/OMIM/MTHU004123 http://purl.bioontology.org/ontology/OMIM/MTHU004118 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	10q22
tui	T047
cui	C1853566

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