Disease #05419

Official abbreviation RHYNS
Name syndrome, retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia (RHYNS)
OMIM ID 602152
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene TMEM67
Associated tissues eyes;ears;liver;bones (skeleton)
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00155014 FamPatII1 PubMed: Di Rocco 1997, PubMed: Brancati 2018, Journal: Brancati 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - RHYNS see paper; ... - TMEM67 2 1 Francesco Brancati
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