Disease #02335 (EBSB1 (epidermolysis bullosa simplex, autosomal recessive, type 1 (EBSB-1)), OMIM:601001)

Official abbreviation EBSB1
Name epidermolysis bullosa simplex, autosomal recessive, type 1 (EBSB-1)
OMIM ID 601001
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 2 genes KRT14, KRT5
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00408292 - - - F - Iran - - - - - EBSB1 Cutaneous: hemorrhagic blistering Oropharyngeal: hoarseness Respiratory: recurrent pulmonary infection PLEC PLEC 2 1 Nailah Harvey
00408293 - - - M yes Iran - - - - - EBSB1 Cutaneous: hemorrhagic blistering, nail dystrophy PLEC PLEC 1 1 Nailah Harvey
00408294 - - - M - Iran - - 0 - - EBSB1 Cutaneous: hemorrhagic blistering PLEC PLEC 1 1 Nailah Harvey
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