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 (OMIM abbreviation)
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
Birth_Details: birth details individual: gestational age (weeks), premature birth (HP:0001622, <37w); birth weight (in g/SD); birth length (in cm/SD); OFC at birth (in cm/SD)
MotorSkills: development motor skills; age head control (in months), age sitting (without support, in months), age walking (without support, in months); head:7m, sit:10m, walk:24m, delayed gross motor development (HP:0002194), delayed fine motor development (HP:0010862)
Vision/Abnormality: does the individual have vision abnormalities (specify)
All options:
- normal = no abnormal vision (-HP:0000504)
- abnormal = abnormal vision (HP:0000504)
- acuity reduced = reduced visual acuity (HP:0007663)
- adjusting luminance changes = difficulty adjusting changes in luminance (HP:0030512)
- age = poor visual behavior for age (HP:0025152)
- amaurosis fugax = amaurosis fugax (HP:0100576)
- binocular vision = abnormal binocular vision (HP:0011514)
- blurred vision = blurred vision (HP:0000622)
- bradyopsia = bradyopsia (HP:0030511)
- color vision = abnormal color vision (HP:0000551)
- field defect = visual field defect (HP:0001123)
- hemeralopia = hemeralopia (HP:0012047)
- impairment = visual impairment (HP:0000505)
- loss = visual loss (HP:0000572)
- loss nonprogressive = nonprogressive visual loss (HP:0200068)
- loss progressive = progressive visual loss (HP:0000529)
- loss progressive slow = slow decrease in visual acuity (HP:0007924)
- metamorphopsia = metamorphopsia (HP:0012508)
- nyctalopia = nyctalopia (HP:0000662)
- photophobia = photophobia (HP:0000613)
- photopsia = photopsia (HP:0030786)
- vitreous floaters = vitreous floaters (HP:0100832)
- ? = unknown
- nr = not reported
Vision/Other: does the individual have other visual problems (specify)?
Hearing/Loss: individual has hearing loss (hearing defect, hearing impairment), please specify
All options:
- abnormal = hearing abnormality (HP:0000364)
- hearing loss = hearing loss (defect, impairment) (HP:0000365, +)
- aminoglycoside-induced = aminoglycoside-induced hearing loss (HP:0011975)
- conductive = hearing loss, conductive (HP:0000405)
- conductive bilateral = bilateral conductive hearing loss (HP:0008513)
- conductive congenital = congenital conductive hearing loss (HP:0008591)
- conductive mild = mild conductive hearing loss (HP:0008598)
- conductive progressive = progressive conductive hearing loss (HP:0008607)
- high frequency = high frequency hearing loss (progressive) (HP:0005101)
- high frequency sensorineural = high frequency sensorineural hearing loss (HP:0001757)
- low-frequency = low-frequency hearing loss (HP:0008542)
- low-frequency sensorineural = low-frequency sensorineural hearing loss (HP:0008573)
- mixed = hearing loss, mixed (HP:0000410)
- otitis media = otitis media (HP:0000388)
- otitis media acute = acute otitis media (HP:0000371)
- otitis media chronic = chronic otitis media (HP:0000389)
- otitis media recurrent = recurrent otitis media (HP:0000403)
- neurosensory mild = mild neurosensory hearing loss (HP:0008587)
- progressive = hearing loss, progressive (HP:0001730)
- sensorineural = hearing loss, sensorineural (HP:0000407)
- sensorineural bilateral = hearing loss, sensorineural, bilateral (HP:0008619)
- sensorineural congenital = hearing loss, congenital sensorineural (HP:0008527)
- sensorineural childhood onset = childhood onset sensorineural hearing loss (HP:0011474)
- sensorineural infantile = infantile sensorineural hearing loss (HP:0008610)
- sensorineural late = late sensorineural hearing loss (HP:0008615)
- sensorineural moderate = moderate sensorineural hearing loss (HP:0008504)
- sensorineural profound = profound sensorineural hearing loss (HP:0011476)
- sensorineural severe = severe sensorineural hearing loss (HP:0008625)
- sensorineural postlingual = postlingual sensorineural hearing loss (HP:0008596)
- sensorineural prelingual = prelingual sensorineural hearing loss (HP:0000399)
- sensorineural progressive = hearing loss, progressive sensorineural (HP:0000408)
- normal = normal hearing
- ? = unknown
- nr = not reported
Eye/Optic_Disc: optic disc abnormalities (please specify)
All options:
- optic disc = normal optic disc appearance
- OD optic disc = normal optic disc appearance
- OS optic disc = normal optic disc appearance
- aplasia ON = optic nerve aplasia (HP:0012521)
- hypoplasia ON = optic nerve hypoplasia (HP:0000609)
- hypoplasia OD = optic disc hypoplasia (HP:0007766)
- septo-optic dysplasia = septo-optic dysplasia (HP:0100842)
- increased ratio = increased cup-to-disc ratio (HP:0012796)
- OD increased cup-to-disc ratio (HP:0012796)
- OD increased cup-to-disc ratio (HP:0012796) 0-0.4
- OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7
- OD increased cup-to-disc ratio (HP:0012796) 0.8-1
- OS increased cup-to-disc ratio (HP:0012796)
- OS increased cup-to-disc ratio (HP:0012796) 0-0.4
- OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7
- OS increased cup-to-disc ratio (HP:0012796) 0.8-1
- drusen = optic disc drusen (HP:0012426)
- papilledema = papilledema (HP:0001085)
- pseudopapilledema = pseudopapilledema (HP:0000538)
- diffuse = diffuse optic disc pallor (HP:0012512)
- peripapillary = peripapillary atrophy
- temporal = temporal optic disc pallor (HP:0012511)
- temporal grey = temporal grey pigmentary crescent
- OD normal = normal optic disc appearance
- OD centrocecal = centrocecal optic disc
- OD diffuse = diffuse optic disc pallor (HP:0012512)
- OD peripapillary = peripapillary atrophy
- OD temporal = temporal optic disc pallor (HP:0012511)
- OD temporal grey = temporal grey pigmentary crescent
- OS normal = normal optic disc appearance
- OS centrocecal = centrocecal optic disc
- OS diffuse = diffuse optic disc pallor (HP:0012512)
- OS peripapillary = peripapillary atrophy
- OS temporal = temporal optic disc pallor (HP:0012511)
- OS temporal grey = temporal grey pigmentary crescent
- ? = unknown
Protein: result from protein staining
Eye/OCT: optical coherence tomography (OCT) measurement thickness mean retinal nerve fiber layer (RNFL) and/or mean ganglion cell layer (GCL) of oculus dexter ganglion cell layer and/or oculus sinister retinal nerve fiber layer measured using specified device
All options:
- OD RNFL ? = OD mean RNFL: not known
- OD RNFL normal = OD mean RNFL: normal
- OD RNFL temporal = OD mean RNFL: thinning only in the temporal quadrant
- OD RNFL superior = OD mean RNFL: thinning only in the superior quadrant
- OD RNFL inferior = OD mean RNFL: thinning only in the inferior quadrant
- OD RNFL nasal = OD mean RNFL: thinning only in the nasal quadrant
- OD RNFL two or more = OD mean RNFL: thinning in 2 or more quadrants
- OD GCL ? = OD mean GCL: not known
- OD GCL normal = OD mean GCL: normal
- OD GCL thinner = OD mean GCL: mean average GCL thickness thinner
- OS RNFL ? = OS mean RNFL: not known
- OS RNFL normal = OS mean RNFL: normal
- OS RNFL temporal = OS mean RNFL: thinning only in the temporal quadrant
- OS RNFL superior = OS mean RNFL: thinning only in the superior quadrant
- OS RNFL inferior = OS mean RNFL: thinning only in the inferior quadrant
- OS RNFL nasal = OS mean RNFL: thinning only in the nasal quadrant
- OS RNFL two or more = OS mean RNFL: thinning in 2 or more quadrants
- OS GCL ? = OS mean GCL: not known
- OS GCL normal = OS mean GCL: normal
- OS GCL thinner = OS mean GCL: mean average GCL thickness thinner
- cirrus = device cirrus
- stratus = device stratus
- Heidelberg = device Heidelberg
- other = device other
Habits: habits of the individual (please specify)
All options:
- alcohol: none
- alcohol: occasionally
- alcohol: 1-7 drinks/week
- alcohol: 8-14 drinks/week
- alcohol: 15-21 drinks/week
- alcohol: >21 drinks/week
- tobacco: none
- tobacco: occasionally
- tobacco: 1-5 packs/year
- tobacco: 6-10 packs/year
- tobacco: 11-15 packs/year
- tobacco: 16-20 packs/year
- tobacco: >20 packs/year
- ? = unknown
- nr = not reported
Histology: observations from histological analysis
Brain/Imaging: imaging brain performed (please specifcy), MRI (magnetic resonance imaging), MR-spec (magnetic resonance spectroscopy)
All options:
- MRI = brain MRI performed
- CT = CT scan performed
- normal = no abnormalities MRI brain
- basal ganglia abnormality (HP:0002134)
- basal ganglia calcification (HP:0002135)
- brainstem abnormality (HP:0002363)
- cerebellar atrophy (HP:0001272)
- cerebellar vermis atrophy (HP:0006855)
- cerebral atrophy (HP:0002059)
- cerebral atrophy, diffuse (HP:0002506)
- cerebral dysmyelination (HP:0007266)
- colpocephaly (HP:0030048)
- corpus callosum abnormality (HP:001273)
- corpus callosum hypoplasia (HP:0002079)
- corpus callosum agenesis (HP:0001274)
- corpus callosum agenesis partial (HP:0001388)
- Dandy-Walker malformation (HP:0001305)
- cortical atrophy (HP:0002120)
- cortical lesions, posterior
- grey matter abnormality
- leukodystrophy (HP:0002415)
- optic atrophy (HP:0000648)
- optic nerve abnormality (HP:0000587)
- optic nerve chiasmal lesions
- peripheral neuropathy, demyelinating (HP:0007108)
- peripheral neuropathy, demyelinating, mild (HP:0007108)
- peripheral neuropathy, demyelinating, severe (HP:0007108)
- peripheral neuropathy, demyelinating (HP:0007108)
- stroke-like lesions
- white matter abnormalities (HP:002500)
- MRspec = brain magnetic resonance spectroscopy performed
- MRspec lactate peak
- no = no brain imaging performed
- ? = unknown
- nr = not reported
Vision/Acuity: abnormal visual acuity (specify)
All options:
- OD normal = oculus dexter normal visual acuity (-HP:0030532)
- OD abnormal = oculus dexter abnormal best corrected visual acuity test (HP:0030534)
- OD 0.1 LogMAR = oculus dexter best corrected visual acuity 0.1 LogMAR (HP:0030554)
- OD 0.2 LogMAR = oculus dexter best corrected visual acuity 0.2 LogMAR (HP:0030555)
- OD 0.3 LogMAR = oculus dexter best corrected visual acuity 0.3 LogMAR (HP:0030556)
- OD 0.4 LogMAR = oculus dexter best corrected visual acuity 0.4 LogMAR (HP:0030557)
- OD 0.5 LogMAR = oculus dexter best corrected visual acuity 0.5 LogMAR (HP:0030558)
- OD 0.6 LogMAR = oculus dexter best corrected visual acuity 0.6 LogMAR (HP:0030559)
- OD 0.7 LogMAR = oculus dexter best corrected visual acuity 0.7 LogMAR (HP:0030560)
- OD 0.8 LogMAR = oculus dexter best corrected visual acuity 0.8 LogMAR (HP:0030561)
- OD 0.9 LogMAR = oculus dexter best corrected visual acuity 0.9 LogMAR (HP:0030562)
- OD 1.0 LogMAR = oculus dexter best corrected visual acuity 1.0 LogMAR (HP:0030563)
- OD 1.1 LogMAR = oculus dexter best corrected visual acuity 1.1 LogMAR (HP:0030564)
- OD 1.2 LogMAR = oculus dexter best corrected visual acuity 1.2 LogMAR (HP:0030565)
- OD 1.3 LogMAR = oculus dexter best corrected visual acuity 1.3 LogMAR (HP:0030566)
- OD 2.0 LogMAR = oculus dexter best corrected visual acuity 2.0 LogMAR (HP:0030567)
- OD 3.0 LogMAR = oculus dexter best corrected visual acuity 3.0 LogMAR (HP:0030568)
- OD light perception w/o projection = oculus dexter visual acuity light perception without projection (HP:0030552)
- OD no light perception = oculus dexter visual acuity no light perception (HP:0030553)
- OD ? = oculus dexter unknown
- OS normal = oculus sinister normal visual acuity (-HP:0030532)
- OS abnormal = oculus sinister abnormal best corrected visual acuity test (HP:0030534)
- OS 0.1 LogMAR = oculus sinister best corrected visual acuity 0.1 LogMAR (HP:0030554)
- OS 0.2 LogMAR = oculus sinister best corrected visual acuity 0.2 LogMAR (HP:0030555)
- OS 0.3 LogMAR = oculus sinister best corrected visual acuity 0.3 LogMAR (HP:0030556)
- OS 0.4 LogMAR = oculus sinister best corrected visual acuity 0.4 LogMAR (HP:0030557)
- OS 0.5 LogMAR = oculus sinister best corrected visual acuity 0.5 LogMAR (HP:0030558)
- OS 0.6 LogMAR = oculus sinister best corrected visual acuity 0.6 LogMAR (HP:0030559)
- OS 0.7 LogMAR = oculus sinister best corrected visual acuity 0.7 LogMAR (HP:0030560)
- OS 0.8 LogMAR = oculus sinister best corrected visual acuity 0.8 LogMAR (HP:0030561)
- OS 0.9 LogMAR = oculus sinister best corrected visual acuity 0.9 LogMAR (HP:0030562)
- OS 1.0 LogMAR = oculus sinister best corrected visual acuity 1.0 LogMAR (HP:0030563)
- OS 1.1 LogMAR = oculus sinister best corrected visual acuity 1.1 LogMAR (HP:0030564)
- OS 1.2 LogMAR = oculus sinister best corrected visual acuity 1.2 LogMAR (HP:0030565)
- OS 1.3 LogMAR = oculus sinister best corrected visual acuity 1.3 LogMAR (HP:0030566)
- OS 2.0 LogMAR = oculus sinister best corrected visual acuity 2.0 LogMAR (HP:0030567)
- OS 3.0 LogMAR = oculus sinister best corrected visual acuity 3.0 LogMAR (HP:0030568)
- OS light perception w/o projection = oculus sinister visual acuity light perception without projection (HP:0030552)
- OS no light perception = oculus sinister visual acuity no light perception (HP:0030553)
- OS ? = oculus sinister unknown
- OD excellent = oculus dexter excellent visual acuity (Log MAR below 0.1)
- OD moderate = oculus dexter moderately impaired visual acuity (Log MAR: 0.2-0.1)
- OD severe = oculus dexter severely impaired visual acuity (Log MAR: 0.9-0.3)
- OD profound = oculus dexter profound visual acuity loss (Log MAR above 0.9)
- OS excellent = oculus sinister excellent visual acuity (Log MAR below 0.1)
- OS moderate = oculus sinister moderately impaired visual acuity (Log MAR: 0.2-0.1)
- OS severe = oculus sinister severely impaired visual acuity (Log MAR: 0.9-0.3)
- OS profound = oculus sinister profound visual acuity loss (Log MAR above 0.9)
Vision/Colour: colour vision tested using e.g. Ishihara color vision test, desaturated 15 Hue test or Farnsworth 100 Hue test
All options:
- abnormal = abnormal colour vision (HP:0000551)
- normal = normal colour vision
- deuteranopia = deuteranopia (HP:0011521)
- dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
- protanopia = protanopia (red/green) (HP:0011522)
- tritanopia = tritanopia (blue/yellow) (HP:0000552)
- OD normal = normal colour vision
- OD deuteranopia = deuteranopia (HP:0011521)
- OD dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
- OD protanopia = protanopia (red/green) (HP:0011522)
- OD tritanopia = tritanopia (blue/yellow) (HP:0000552)
- OS normal = normal colour vision
- OS deuteranopia = deuteranopia (HP:0011521)
- OS dyschromatopsia = generalised non specific dyschromatopsia (HP:0007641)
- OS protanopia = protanopia (red/green) (HP:0011522)
- OS tritanopia = tritanopia (blue/yellow) (HP:0000552)
- OD ? = OD unknown
- OS ? = OD unknown
- ? = unknown
Vision/Field: visual field defect
All options:
- normal = normal visual field
- arcuate = arcuate scotoma (HP:0030530)
- central = central scotoma (HP:0000603)
- centrocecal = centrocecal scotoma (HP:0000576)
- paracentral = paracentral scotoma (HP:0030528)
- pericentral = pericentral scotoma (HP:0007761)
- ring = ring scotoma (HP:0030529)
- scintillating = scintillating scotoma (HP:0010822)
- ? = unknown visual field defect
- OD Goldmann = Goldmann type visual field oculus dexter
- OD Humphrey = Humphrey/Octopus type automated perimetry oculus dexter
- OD above 0 = oculus dexter mean deviation above 0
- OD 0 to -4 = oculus dexter mean deviation 0 to -4
- OD -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
- OD -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
- OD below -20 = oculus dexter mean deviation below -20
- OD normal = normal oculus dexter
- OD centrocecal = centrocecal scotoma (HP:0000576) oculus dexter
- OD central = central scotoma (HP:0000603) oculus dexter
- OD paracentral = paracentral scotoma (HP:0030528) oculus dexter
- OD superotemporal = defect superotemporal visual field oculus dexter
- OD undefined = undefined central defect oculus dexter
- OS Goldmann = Goldmann type visual field oculus sinister
- OS Humphrey = Humphrey/Octopus type automated perimetry oculus sinister
- OS above 0 = oculus dexter mean deviation above 0
- OS 0 to -4 = oculus dexter mean deviation 0 to -4
- OS -4.01 to -12 = oculus dexter mean deviation -4.01 to -12
- OS -12.01 to -20 = oculus dexter mean deviation -12.01 to -20
- OS below -20 = oculus dexter mean deviation below -20
- OS normal = normal oculus sinister
- OS centrocecal = centrocecal scotoma (HP:0000576) oculus sinister
- OS central = central scotoma (HP:0000603) oculus sinister
- OS paracentral = paracentral scotoma (HP:0030528) oculus sinister
- OS superotemporal = defect superotemporal visual field oculus sinister
- OS undefined = undefined central defect oculus sinister
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| Operator |
Column type |
Example |
Matches |
| |
Text |
Arg |
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| space |
Text |
Arg Ser |
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| | |
Text |
Arg|Ser |
all entries containing 'Arg' or 'Ser' |
| ! |
Text |
!fs |
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| ^ |
Text |
^p.(Arg |
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| $ |
Text |
Ser)$ |
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| ="" |
Text |
="" |
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| ="" |
Text |
="p.0" |
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Text |
!="" |
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| !="" |
Text |
!="p.0" |
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| combination |
Text |
*|Ter !fs |
all entries containing '*' or 'Ter' but not containing 'fs' |
|
Date |
2020 |
all entries matching the year 2020 |
| | |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
| ! |
Date |
!2020-03 |
all entries not matching March, 2020 |
| < |
Date |
<2020 |
all entries before the year 2020 |
| <= |
Date |
<=2020-06 |
all entries in or before June, 2020 |
| > |
Date |
>2020-06 |
all entries after June, 2020 |
| >= |
Date |
>=2020-06-15 |
all entries on or after June 15th, 2020 |
| combination |
Date |
2019|2020 <2020-03 |
all entries in 2019 or 2020, and before March, 2020 |
|
Numeric |
23 |
all entries exactly matching 23 |
| | |
Numeric |
23|24 |
all entries exactly matching 23 or 24 |
| ! |
Numeric |
!23 |
all entries not exactly matching 23 |
| < |
Numeric |
<23 |
all entries lower than 23 |
| <= |
Numeric |
<=23 |
all entries lower than, or equal to, 23 |
| > |
Numeric |
>23 |
all entries higher than 23 |
| >= |
Numeric |
>=23 |
all entries higher than, or equal to, 23 |
| combination |
Numeric |
>=20 <30 !23 |
all entries with values from 20 to 29, but not equal to 23 |
Some more advanced examples:
| Example |
Matches |
| Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
| Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
| Asian|African !Caucasian |
all entries containing 'Asian' or 'African', but not containing 'Caucasian' |
| "South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
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