| Metadata | |
|---|---|
| ID | DOID:0050657 |
| Name | Cowden syndrome 1 |
| Definition | A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/31062505, https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1488/, https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome |
| Xrefs |
ICDO:9493/0 SNOMEDCT_US_2023_03_01:67944007 SNOMEDCT_US_2025_03_01:716862002 SNOMEDCT_US_2025_03_01:763867001 SNOMEDCT_US_2025_05_01:722859001 |
| SKOS |
exactMatch ICD10CM:Q85.81 exactMatch GARD:12800 exactMatch NCI:C179915 narrowMatch ORDO:137608 narrowMatch ICDO:9493/0 narrowMatch UMLS_CUI:C1866398 narrowMatch ORDO:65285 narrowMatch UMLS_CUI:C4706610 narrowMatch UMLS_CUI:C0391826 narrowMatch NCI:C179930 narrowMatch GARD:6901 narrowMatch NCI:C8419 |
| Alternateids |
DOID:0080191 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Bannayan-Riley-Ruvalcaba syndrome [NARROW] Bannayan-Zonana syndrome [NARROW] BRRS [NARROW] dysplastic cerebellar gangliocytoma [NARROW] dysplastic gangliocytoma of cerebellum [NARROW] Lhermitte-Duclos disease [NARROW] PHTS [EXACT] Proteus-like syndrome [NARROW] PTEN hamartoma tumor syndrome [EXACT] Riley-Smith syndrome [NARROW] Ruvalcaba-Myhre-Smith syndrome [NARROW] segmental overgrowth, lipomatosis, arteriovenous malformation, and epidermal nevus syndrome [NARROW] SOLAMEN syndrome [NARROW] |
| Parent Relationships |
is_a autosomal dominant disease is_a Cowden syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |