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

• 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/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/Weight: weight at birth (in kg, with SD)

Stature: individual has abnormal stature
All options:

• yes (<3rd centile)
• stature, short (HPO_0004322)
• stature, short, asymmetric (HPO_0008929)
• stature, short, disproportionate (HPO_0003498)
• stature, short, proportionate (HPO_0003508)
• stature, short, mesomelic (HPO_0008845)
• stature, short, mild (HPO_0003502)
• stature, short, moderately (HPO_0008848)
• stature, short, severe (HPO_0003510)
• stature, tall (HPO_0000098)
• stature, tall, proportionate (HPO_0011407)
• stature, tall, disproportionate (HPO_0001519)
• - = no
• ? = unknown
• n/a = not analysed

Protein: result from protein staining

Birth/Length: length at birth (in cm and with SD)

ChorioRetina: abnormality chorioretina (please specify)
All options:

• abnormal = chrioretinal abnormality (HP:0000532)
• atrophy = chorioretinal atrophy (HP:0000533)
• atrophy peripapillary = peripapillary chorioretinal atrophy (HP:0000533)
• atrophy paravenous = pigmented paravenous chorioretinal atrophy (HP:0007903)
• atrophy progressive = progressive bifocal chorioretinal atrophy (HP:0007810)
• chorioretinopathy = chorioretinopathy (+, HP:0001145)
• chorioretinopathy no = no chorioretinopathy (-)
• chorioretinitis = chorioretinitis (HP:0012424)
• chorioretinopathy = chorioretinopathy (HP:0001145)
• coloboma = chrioretinal coloboma (HP:0000567)
• dysplasia = chrioretinal dysplasia (HP:0007731)
• dystrophy = chrioretinal dystrophy (HP:0001135)
• dystrophy congenital = congenital chrioretinal dystrophy (HP:0007920)
• lacunae = chrioretinal lacunae (HP:0007858)
• pigmentation abnormal = chrioretinal hyper/hypo-pigmentation (HP:0007661)
• hyperpigmentation = chrioretinal hyperpigmentation (HP:0040031)
• hypopigmentation = chrioretinal hypopigmentation (HP:0040030)
• scars = chrioretinal scars (HP:0007777)
• ? = unknown
• n/a = not analysed

Eyelashes: individual has abnormality of the eyelashes (please specify)
All options:

• abnormal = abnormal eylashes (HP:0000499)
• abnormal lower = abnormal lower eylashes (HP:0040052)
• abnormal upper = abnormal upper eylashes (HP:0040051)
• absent = absent eyelashes (HP:0000561)
• eyelashes, absent/sparse (HP:0200102)
• eyelashes, loss (HP:0011457)
• eyelashes, absent, inner (HP:0007708)
• eyelashes, absent, lower (HP:0007646)
• eyelashes, absent, upper (HP:0040056)
• eyelashes, curly (HP:0007665)
• eyelashes, curly, short (HP:0007691)
• eyelashes, double row (distichiasis, HP:0009743)
• eyelashes, three rows (HP:0008009)
• eyelashes, multiple rows (HP:0008496)
• eyelashes, long (trichomegaly, HP:0000527)
• eyelashes, long, irregular rows (HP:0007740)
• eyelashes, long, lower (HP:0040053)
• eyelashes, long, upper (HP:0007840)
• eyelashes, normal
• eyelashes, prominent (HP:0011231)
• eyelashes, short (HP:0010764)
• eyelashes, short, lower (HP:0040055)
• eyelashes, short, upper (HP:0040054)
• eyelashes, sparse (HP:0000653)
• eyelashes, sparse, lower (HP:0007766)
• eyelashes, sparse, upper (HP:0040050)
• eyelashes, trichiasis (inward groth, HP:0001128
• eyelashes, white (HP:0002227)
• ? = unknown
• n/a = not analysed

Hair/Alopecia: individual has alopecia
All options:

• alopecia (HPO_0001596)
• alopecia, patchy (HPO_0002232)
• alopecia, patchy, atrophic (HPO_0004529)
• alopecia, progressive (HPO_0002287)
• alopecia areata (HPO_0002229)
• alopecia occipital, posterior, congenital (HPO_0007534)
• alopecia scalp (HPO_0002293)
• alopecia scalp, scarring (HPO_0004552)
• alopecia totalis (HPO_0007418)
• alopecia totalis, congenital (HPO_0005597)
• alopecia universalis (HPO_0002289)
• - = no alopecia
• ? = unknown
• n/a = not analysed

Intellectual_dis: individual has intellectual disability (intellectual disability (mental retardation), HP:0001249,mental retardation); please specify
All options:

• yes = intellectual disability (HP:0001249, IQ below 70)
• borderline = intellectual disability, borderline (HP:0006889, IQ 70-79)
• mild = intellectual disability, mild (HP:0001256, IQ 50-69)
• moderate = intellectual disability, moderate (HP:0002342, IQ 35-49)
• profound = intellectual disability, profound (HP:0002187, IQ below 20)
• severe = intellectual disability, severe (HP:0010864, IQ 20-34)
• progressive = intellectual disability, progressive (HP:0006887)
• no = no intellectual disability (IQ above 79, -)
• ? = unknown
• n/a = not analysed

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
|	Text	Arg|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
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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