Phenotypes for disease #05693 (brain calcification (calcification, brain))

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Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

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

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

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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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10 entries on 1 page. Showing entries 1 - 10.

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Phenotype ID	Diagnosis/Initial	Diagnosis/Definite	Phenotype details	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Owner	Individual ID
0000222985	brain calcification	-	normal birth and early milestones; onset childhood, cerebellar ataxia, cognitive decline; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria, nystagmus); Parkinsonism rigidity, bradykinesia.; dystonia generalized; seizures, ophthalmoplegia, PEG inserted in advance stage; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter	Familial, autosomal recessive	24y	-	-	-	Johan den Dunnen	00289372
0000222986	brain calcification	-	normal birth and early milestones; onset late 20s, cognitive decline, depression; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; PEG inserted in advance stage; memory decline with severe impaired recall; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter	Familial, autosomal recessive	41y	-	-	-	Johan den Dunnen	00289373
0000222987	brain calcification	-	normal birth and early milestones; onset late 30s, difficulty walking; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia); Parkinsonism hypophonia, hypomimia, bradykinesia; dystonia limb dystonia and orofacial dyskinesias; became anarthric in advanced stage; unable to comment on cognition due to anarthria; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter	Familial, autosomal recessive	39y	-	-	-	Johan den Dunnen	00289374
0000222988	brain calcification	-	normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter	Familial, autosomal recessive	40y	-	-	-	Johan den Dunnen	00289375
0000222989	brain calcification	-	normal birth and early milestones; onset teenage, depression, dysarthria; pyramidal syndrome (increased tone, brisk reflexes, upgoing plantars); cerebellar syndrome (upper and lower limb ataxia, dysarthria); Parkinsonism rigidity, bradykinesia; no dystonia; severe cognitive decline; MRI brain basal ganglia, thalamus, cerebellum, deep gray matter	Familial, autosomal recessive	49y	-	-	-	Johan den Dunnen	00289376
0000222990	brain calcification	-	normal birth and early milestones; onset childhood, autism spectrum disorder; no pyramidal syndrome; cerebellar syndrome (upper and lower limb mild ataxia, nystagmus; no Parkinsonism ; no dystonia; autism spectrum disorder; decline in academic performance; MRI brain basal ganglia, and frontal cortex	Familial, autosomal recessive	15y	-	-	-	Johan den Dunnen	00289377
0000222991	brain calcification	-	normal birth and early milestones; onset early childhood, seizures; no pyramidal syndrome; no cerebellar syndrome; no Parkinsonism ; no dystonia; normal cognitive function; MRI brain basal ganglia, dentate nucleus and cerebellar hemispheres	Familial, autosomal recessive	7y	-	-	-	Johan den Dunnen	00289378
0000346420	brain calcification	IBGC10	see paper; ..., calcification bilateral globus pallidus/thalamus/cerebellum; no cognitive impairment; no ataxia; no dysarthria; no headache; no seizures; no stroke-like episodes; ECG normal; echocardiography mild pulmonary hypertension; abdominal ultrasonography normal; total calcification score 20; mitochondrial disorder unlikely	Familial, autosomal recessive	44y	-	-	-	Johan den Dunnen	00457970
0000346421	brain calcification	IBGC10	see paper; ..., calcification caudate nucleus/periventricular white matter/cerebral cortex; cognitive impairment; ataxia; dysarthria; no seizures; no headache; no stroke-like episodes; ECG normal; echocardiography normal; abdominal ultrasonography normal; total calcification score 52; possible mitochondrial disorder	Familial, autosomal recessive	40y	-	-	-	Johan den Dunnen	00457971
0000346422	brain calcification	IBGC10	see paper; ..., brain calcification; cognitive impairment; ataxia; dysarthria; no seizures; no headache; no stroke-like episodes; EEG normal; EMG normal; total calcification score 57; mitochondrial disorder unlikely	Familial, autosomal recessive	39y	-	-	-	Johan den Dunnen	00457972

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