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

Tumor/MSI: tumor MSI (micro-sattelite instability); MSI-H (MSI-high), MSI-L (MSI-low), MSS ( microsatellite stable), ? (unknown), n/a (not analysed)

Cysts: individual has cysts, please specify
All options:

• normal = no cysts
• adenomatoid lung disease = cystic adenomatoid lung disease (HP:0010959)
• aneurysmal bone = aneurysmal bone cyst (HP:0012063)
• bone angiomatosis = cystic angiomatosis bone (HP:0002833 )
• arachnoid = arachnoid cysts (HP:0100702)
• basal ganglia = basal ganglia cysts (HP:0006799)
• bone = bone cysts (HP:0100696)
• bone unicameral = unicameral bone cyst (HP:0012064)
• branchial = branchial cyst (HP:0009796)
• bronchogenic = bronchogenic cyst (HP:0100730)
• cerebellar = cerebellar cysts (HP:0002350)
• cerebralic malformation = cerebral cystic malformation (HP:0010576)
• choledochal = choledochal cyst (HP:0100890)
• choroid plexus = choroid plexus cyst (HP:0002190)
• cortical = cortical cysts (HP:0000803)
• Dandy-Walker = Dandy-Walker cyst (HP:0001305)
• epidermal = epidermal (epidermoid) cysts (HP:0200040)
• eyelid = cysts eyelid (HP:0010604)
• fetal choroid plexus = fetal choroid plexus cysts (HP:0011426)
• fetal hygroma = fetal cystic hygroma (HP:0010878)
• gastric duplication = gastric duplication cyst (HP:0011139)
• intracranial dermoid = intracranial dermoid cyst (HP:0012097)
• intracranial epidermoid = intracranial epidermoid cyst (HP:0012096)
• intrahepatic bile duct = intrahepatic bile duct cysts (HP:0005209)
• iris = iris cyst (HP:0011523)
• laryngeal = laryngeal cyst (HP:0100640)
• liver = cystic liver disease (HP:0006706)
• hepatic = hepatic cysts (HP:0001407)
• lung = cystic lung disease (HP:0005948)
• lung lesion = cystic lung lesion (HP:0100632)
• macular degeneration = cystic macular degeneration (HP:0008028)
• orbital = orbital cysts (HP:0001144)
• ovarian = ovarian cysts (HP:0000138)
• pancreatic = pancreatic cysts (HP:0001737)
• periventricular = periventricular cysts (HP:0007109)
• pilonidal = pilonidal cyst (HP:0010769)
• pinnae = cystic lesions pinnae (HP:0010723)
• posterior fossa = posterior fossa cyst (HP:0007291)
• posterior fossa ventricle 4th = posterior fossa cyst 4th ventricle (HP:0000933)
• postnatalic hygroma = postnatal cystic hygroma (HP:0010879)
• renal = renal cysts (HP:0000107)
• retrocerebellar = retrocerebellar cyst (HP:0006951)
• skin = skin cysts (HP:0200040)
• spina bifida = spina bifida cystica (HP:0002475)
• spinal canal = epidural arachnoid cysts spinal canal (HP:0009745)
• subependymal = subependymal cysts (HP:0002416)
• thyroglossal = thyroglossal cyst (HP:0010518)
• urinary bladder = cystitis urinary bladder (HP:0100577)
• ? = unknown
• n/a = not applicable

Eye/Retina: abnormality retina
All options:

• CHRPE = congenital hypertrophy of retinal pigment epithelium (HP:0011528)
• CHRPE? = unclear congenital hypertrophy of retinal pigment epithelium (?HP:0011528)
• no = normal retina
• ? = unknown
• n/a = not analyse

Neoplasm: individual has a neoplasm (please specify)
All options:

• neoplasm = neoplasm (HP:0002664)
• chondroblastoma = chondroblastoma (HP:0030432)
• chondrosarcoma = chondrosarcoma (HP:0006765)
• desmoids = desmoids (HP:0100245)
• exostoses = exostoses (HP:0100777)
• hepatoblastoma = hepatoblastoma (HP:0002884)
• lipoma = lipoma (HP:0012032)
• osteoma = osteome (HP:0100246)
• osteosarcoma = osteosarcome (HP:0002669)
• no = no neoplasm
• ? = unknown