Disease #01239 (CTRCT5 (cataract, type 5, multiple types (CTRCT-5, lamellar, Marner type)), OMIM:116800)

Official abbreviation CTRCT5
Name cataract, type 5, multiple types (CTRCT-5, lamellar, Marner type)
OMIM ID 116800
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene HSF4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00060065 FamI PubMed: Bu 2002, Journal: Bu 2002 5-generation family, 31 affecteds (13F, 18M), unaffected heterozygous carrier parents F;M no China - - - - - CTRCT5 lameller cataract (Marner type) HSF4 HSF4 1 31 Johan den Dunnen
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