Phenotypes for disease #04050 (DDD4 (disease, Dowling-Degos, type 4 (DDD4)), OMIM:615696)

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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

How to query this table

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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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27 entries on 1 page. Showing entries 1 - 27.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000288743	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395545
0000288744	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395546
0000288745	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395547
0000288746	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395548
0000288747	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395549
0000288748	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395550
0000288749	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395551
0000288750	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395552
0000288751	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395553
0000288752	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395554
0000288753	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395555
0000288754	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395556
0000288755	-	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395557
0000288838	no hyperpigmentation face, neck; hyperpigmentation trunk, axillae, extremeties, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	50y	-	-	Johan den Dunnen	00395639
0000288839	hyperpigmentation	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395640
0000288840	hyperpigmentation	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395641
0000288841	no hyperpigmentation axillae, inframammary region, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	27y	-	-	Johan den Dunnen	00395642
0000288842	hyperpigmentation	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395643
0000288843	no hyperpigmentation face, neck, hands, feet, elbows, wrists; hyperpigmentation trunk, axillae, extremeties, inframammary region, inguinal folds, genitals	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	55y	-	-	Johan den Dunnen	00395644
0000288844	no hyperpigmentation face, neck, hands, feet, genitals; hyperpigmentation trunk, axillae, extremeties, inframammary region, elbows, wrists, inguinal folds	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	50y	-	-	Johan den Dunnen	00395645
0000288845	hyperpigmentation	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395646
0000288846	no hyperpigmentation axillae, axillae, inframammary region, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, hands, feet	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	41y	-	-	Johan den Dunnen	00395647
0000288847	no hyperpigmentation face, neck, axillae, hands, feet, elbows, wrists, genitals; hyperpigmentation trunk, extremeties, inframammary region, inguinal folds	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	55y	-	-	Johan den Dunnen	00395648
0000288848	hyperpigmentation	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395649
0000288849	no hyperpigmentation face, neck, axillae, inframammary region, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation trunk, extremeties	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	60y	-	-	Johan den Dunnen	00395650
0000288850	no hyperpigmentation trunk, trunk, axillae, hands, feet, elbows, wrists, inguinal folds, genitals; hyperpigmentation face, neck, extremeties, inframammary region	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	43y	-	-	Johan den Dunnen	00395651
0000288851	no hyperpigmentation face, neck, axillae, hands, feet, elbows, inguinal folds, genitals; hyperpigmentation trunk, extremeties, inframammary region, wrists	Dowling-Degos disease	DDD4	Familial, autosomal dominant	-	-	-	-	-	Johan den Dunnen	00395652

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How to query

Global Variome shared LOVD