Disease #00583

Official abbreviation -
Name telangiectasia, cutaneous, and cancer syndrome, familial
OMIM ID 614564
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ATR
Associated tissues -
Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00249444 - - 5-generation family, 24 affecteds - - United States Caucasian - 0 - - telangiectasia, cutaneous, and cancer syndrome, familial telangiectases, thinning lateral part eyebrows, patchy alopecia (prominent telangiectases skin), thin dental enamel, dental caries (primary and secondary dentition), oropharyngeal cancer (third decade of life or later) ATR ATR 1 24 -
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