Phenotypes for disease #03511 (DKCA3 (dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3)), OMIM:613990)

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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

Protein: result from protein staining

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Operator	Column type	Example	Matches
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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

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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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18 entries on 1 page. Showing entries 1 - 18.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000078675	mucocutaneous features, bone marrow failure, dyskeratosis congenita	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00100474
0000078676	mucocutaneous features, bone marrow failure, dyskeratosis congenita	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00100475
0000078678	autosomal-dominant dyskeratosis congenita, Hoyeraal Hreidarsson syndrome, and Revesz syndrome	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100477
0000078679	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100478
0000078683	autosomal-dominant dyskeratosis congenita and aplastic anemia	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100482
0000078684	autosomal-dominant dyskeratosis congenita, Hoyeraal Hreidarsson syndrome, and Revesz syndrome	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100483
0000078685	autosomal-dominant dyskeratosis congenita and Hoyeraal Hreidarsson syndrome	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100484
0000078686	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100485
0000078687	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100486
0000078689	autosomal-dominant dyskeratosis congenita and aplastic anemia	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100488
0000078690	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100489
0000078691	dyskeratosis congenita	-	-	Unknown	-	-	-	-	-	Johan den Dunnen	00100490
0000078694	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100493
0000078695	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100494
0000078696	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100495
0000078697	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100496
0000078698	autosomal-dominant dyskeratosis congenita	-	-	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00100497
0000216381	severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; no seizures; MRI-brain focal thinning of corpus callosum, thin pituitary stalk, global brain atrophy; normal skin; no cataract; normal heart; tracheostomy; feeding difficulties, nasogastric tube; normal urinary tract; recurrent fever/frequent viral infections; normal limbs; bushy eyebrows, low anterior hairline; mild hepatomegaly	neurodevelopmental delay	-	Familial, autosomal recessive	8m	-	-	-	-	Johan den Dunnen	00281803

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