Phenotypes for disease #00748 (TTD (trichothiodystrophy (TTD)))

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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
	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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19 entries on 1 page. Showing entries 1 - 19.

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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
0000036281	brittle hair, ichtyosis	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00049514
0000143716	-	-	TTD-3	Familial, autosomal recessive	-	-	-	-	-	Rafał Płoski	00181520
0000199295	see paper; ..., severe trichothiodystrophy, intrauterine growth restriction, progressive microcephaly, profound intellectual disability, genital anomalies (absent or rudimentary testes with microphallus), severe linear growth failure (normal growth hormone production): all 3 obligate carriers short stature	trichothiodystrophy	TTD-5	Familial, X-linked	-	-	-	-	-	Johan den Dunnen	00260763
0000199296	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260764
0000199297	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260765
0000199298	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260766
0000199299	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260767
0000199300	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260768
0000199301	see paper; …, mental retardation, decreased fertility	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260769
0000199302	see paper; …, mental retardation, decreased fertility, severe nervous-system impairment	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260770
0000199303	see paper; …, moderate severity	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	8y	-	-	-	Johan den Dunnen	00260771
0000199304	see paper; …, severe	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	4y	-	-	-	Johan den Dunnen	00260772
0000199305	see paper; …, moderate severity	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	3y	-	-	-	Johan den Dunnen	00260773
0000199306	see paper; …, severe	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	6y	-	-	-	Johan den Dunnen	00260774
0000199307	see paper; …, moderate severity	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	3y	-	-	-	Johan den Dunnen	00260775
0000199308	see paper; …, moderate severity	nonphotosensitive trichothiodystrophy	TTD-4	Familial, autosomal recessive	-	3y	-	-	-	Johan den Dunnen	00260776
0000199309	see paper; ...,	Pollitt syndrome	TTD-4	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260777
0000199310	see paper; ..., hair fractures (trichoschisis), hair alternating light/dark banding pattern (tiger tail), no sun-sensitive skin, ichthyosis, follicular keratosis, delayed physical development, recurrent infections respiratory tract, acromandibular dysplasia	trichothiodystrophy	TTD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260778
0000199311	see paper; ..., abnormal structure hair shaft (tiger-tail) banding pattern, born encased in tight, shiny membrane (collodion baby), ichthyosis	trichothiodystrophy	TTD	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00260779

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Global Variome shared LOVD

PRKG2 (protein kinase, cGMP-dependent, type II)