Online Mendelian Inheritance in Man - CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/619074 http://purl.bioontology.org/ontology/OMIM/619074
Preferred Name	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
Synonyms	CPPRDD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CPPRDD
prefLabel	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
Gene Symbol	CPPRDD D11S833E LRRC32 GARP
notation	619074
Scope Statement	Based on report of a sister and brother and an unrelated boy (last curated October 2020) [MISCELLANEOUS] Caused by mutation in the leucine-rich repeat-containing protein-32 gene (LRRC32, 137207.0001) [MOLECULAR BASIS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
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/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU072189 http://purl.bioontology.org/ontology/OMIM/MTHU004435 http://purl.bioontology.org/ontology/OMIM/MTHU003988 http://purl.bioontology.org/ontology/OMIM/MTHU036341 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU072188 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU001601 http://purl.bioontology.org/ontology/OMIM/MTHU072191 http://purl.bioontology.org/ontology/OMIM/MTHU034796 http://purl.bioontology.org/ontology/OMIM/MTHU008076 http://purl.bioontology.org/ontology/OMIM/MTHU007910 http://purl.bioontology.org/ontology/OMIM/MTHU072190 http://purl.bioontology.org/ontology/OMIM/MTHU022865 http://purl.bioontology.org/ontology/OMIM/MTHU012538 http://purl.bioontology.org/ontology/OMIM/MTHU002187 http://purl.bioontology.org/ontology/OMIM/MTHU068553 http://purl.bioontology.org/ontology/OMIM/MTHU002301 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU032859 http://purl.bioontology.org/ontology/OMIM/MTHU004395 http://purl.bioontology.org/ontology/OMIM/MTHU033395 http://purl.bioontology.org/ontology/OMIM/MTHU004137 http://purl.bioontology.org/ontology/OMIM/MTHU010555 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	11q13.5
tui	T047
cui	C5436739

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