Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

• Unknown
• Familial
• Familial, autosomal dominant
• Familial, autosomal recessive
• Familial, X-linked
• Familial, X-linked dominant
• Familial, X-linked dominant, male sparing
• Familial, X-linked recessive
• Paternal, Y-linked
• Maternal, mitochondrial
• Isolated (sporadic)
• Di-genic
• Complex
• - = Not applicable

Age/Examination: age at which the individual was examined.

• 35y = 35 years
• 04y08m = 4 years and 8 months
• 00y00m01d12h = 1 day and 12 hours
• 18y? = around 18 years
• 30y-40y = between 30 and 40 years
• >54y = older than 54
• ? = unknown

Age/Diagnosis: age diagnosis was confirmed

Age/Onset: Age first symptoms disease appeared in individual:

• 35y = 35 years
• 04y08m = 4 years and 8 months
• 00y00m01d12h = 1 day and 12 hours
• 18y? = around 18 years
• 30y-40y = between 30 and 40 years
• >54y = older than 54
• ? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

Cancer/Sub_type: cancer(s) identified in individual
All options:

• CDC = collecting duct carcinoma (CDC)
• CL = cutaneous leiomyoma (CL)
• GIST = gastrointestinal stromal tumor (GIST)
• HLRCC = hereditary leiomyomatosis and renal cell cancer (HLRCC)
• LCT = leydig cell tumor (LCT)
• MCUL = multiple cutaneous leiomyoma (MCUL)
• MMAD = masive macronodular adrenocortical disease (MMAD)
• OMS = ovarian mucinous cystadenoma (OMS)
• ONC = oncocytoma (ONC)
• PMA = pituitary macroadenoma (PMA)
• PTC = papillary thyroid carcinoma (PTC)
• RCC = renal cell carcinoma (RCC)
• STS = soft tissue sarcoma (STS)
• UL = uterine leiomyoma (UL)
• ULMS = uterine leiomyosarcoma (ULMS)