Disease #00011

Official abbreviation USH-3B
Name Usher syndrome, type 3B (USH-3B)
OMIM ID 614504
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HARS
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B inguinal hernia bilateral, 3 hypomelanitic maculae. ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00132811 - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - USH-3B - CFTR CFTR 2 1 Johan den Dunnen
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