Online Mendelian Inheritance in Man - PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/221900 http://purl.bioontology.org/ontology/OMIM/221900
Preferred Name	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
Synonyms	PHPVAR RNANC NCRNA RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL PERSISTENT FETAL VASCULATURE RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PHPVAR RNANC NCRNA RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL PERSISTENT FETAL VASCULATURE RETINAL NONATTACHMENT AND FALCIFORM DETACHMENT See more See less
prefLabel	PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
Gene Symbol	ATOH7 PHPVAR NCRNA
Scope Statement	Caused by mutation in the homolog of the drosophila atonal 7 gene (ATOH7, 609875.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007399 http://purl.bioontology.org/ontology/OMIM/MTHU002325 http://purl.bioontology.org/ontology/OMIM/MTHU073525 http://purl.bioontology.org/ontology/OMIM/MTHU009657 http://purl.bioontology.org/ontology/OMIM/MTHU036341 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU073512 http://purl.bioontology.org/ontology/OMIM/MTHU036526 http://purl.bioontology.org/ontology/OMIM/MTHU073515 http://purl.bioontology.org/ontology/OMIM/MTHU073517 http://purl.bioontology.org/ontology/OMIM/MTHU073519 http://purl.bioontology.org/ontology/OMIM/MTHU012746 http://purl.bioontology.org/ontology/OMIM/MTHU073523 http://purl.bioontology.org/ontology/OMIM/MTHU073521 http://purl.bioontology.org/ontology/OMIM/MTHU073524 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU004893 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU045568 http://purl.bioontology.org/ontology/OMIM/MTHU073518 http://purl.bioontology.org/ontology/OMIM/MTHU073513 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU073514 http://purl.bioontology.org/ontology/OMIM/MTHU037383 http://purl.bioontology.org/ontology/OMIM/MTHU073516 http://purl.bioontology.org/ontology/OMIM/MTHU020466 http://purl.bioontology.org/ontology/OMIM/MTHU073522 http://purl.bioontology.org/ontology/OMIM/MTHU073526 http://purl.bioontology.org/ontology/OMIM/MTHU073520 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047 T019
Gene Locus	10q21.3-q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	221900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T019
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1969783 C1857299 C0266568 C1867315
Moved from	611311 264200 180070
OMIM Entry Type	3
OMIM MimType Value	pound

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