Phenotypes for disease #05278 (HFE (hemochromatosis (HFE)))

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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/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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39 entries on 1 page. Showing entries 1 - 39.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000082793	-	-	-	Familial, autosomal recessive	59y	-	-	-	Mayka Sanchez	00019844
0000082794	see paper; ...	-	-	Familial, autosomal recessive	26y	-	-	-	Johan den Dunnen	00104898
0000082795	hemochromatosis, treated with phlebotomy	-	-	Familial, autosomal recessive	69y	-	-	-	Johan den Dunnen	00104899
0000082796	mild hyperferritinemia, metabolic syndrome, body mass index 31, hypercholesterolemia, type 2 diabetes mellitus, hepatic steatosis; iron overload phenotype, MRI mild liver iron overload (50 μmol Fe/g); phlebotomy initiated at 450 ml of blood per month for 3 months, then every 3 months thereafter with an annual check-up (1.35 g of Fe removed) ;no laboratory values to assess response;measures to control weight, cholesterol, and glucose were prescribed	-	-	Familial, autosomal recessive	52y	-	-	-	Johan den Dunnen	00104903
0000082797	classic hemochromatosis; MRI revealed iron overload phenotype, severe liver iron overload (230 μmol Fe/g); received phlebotomy for 2y (6.07g of Fe removed), no follow-up MR	-	-	Familial, autosomal recessive	44y	-	-	-	Johan den Dunnen	00104904
0000082798	classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 μmol Fe/g), not in spleen or pancreas; phlebotomy for 2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis	-	-	Familial, autosomal recessive	59y	-	-	-	Johan den Dunnen	00104905
0000082799	-	-	-	Familial, autosomal recessive	-	-	-	-	Mayka Sanchez	00019846
0000082800	severe iron deposits in the hepatocytes and bile ducts, generally pigmented, none affected by diabetes mellitus, elevated serum CA19-9	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00019847
0000082804	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104907
0000082805	see paper; ...	-	-	Familial, autosomal recessive	03y	-	-	-	Johan den Dunnen	00104908
0000082806	see paper	-	-	Familial, autosomal recessive	16y	-	-	-	Johan den Dunnen	00104909
0000082807	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104910
0000082808	severe hereditary hemochromatosis	-	-	Familial, autosomal recessive	28y	-	-	-	Johan den Dunnen	00104911
0000082809	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104912
0000082810	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104913
0000082811	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104914
0000082812	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104915
0000082813	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104916
0000082814	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104917
0000082815	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104918
0000082816	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104919
0000082817	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104920
0000082818	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104921
0000082819	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104922
0000082820	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104923
0000082821	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104924
0000082822	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104925
0000082823	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104926
0000082824	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104927
0000082825	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104928
0000082826	-	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104929
0000082827	see paper; ...	-	-	Familial, autosomal recessive	10y	-	-	-	Johan den Dunnen	00104930
0000082828	see paper; ...	-	-	Familial, autosomal recessive	17y	-	-	-	Johan den Dunnen	00104931
0000082829	see paper; ...	-	-	Familial, autosomal recessive	39y	-	-	-	Johan den Dunnen	00104932
0000082830	see paper; ...	-	-	Familial, autosomal recessive	25y	-	-	-	Johan den Dunnen	00104933
0000082831	see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	Johan den Dunnen	00104934
0000082832	see paper; arthropathy, non-HFE related haemochromatosis, elevated transferrin saturation, arthropathy; phlebotomies very well tolerated, removed 19.5 g iron	-	-	Familial, autosomal dominant	28y	-	-	-	Johan den Dunnen	00104935
0000082833	see paper; ...	-	-	Familial, autosomal recessive	29y	-	-	-	Johan den Dunnen	00104936
0000082834	see paper; ...	-	-	Unknown	-	-	-	-	Johan den Dunnen	00104937

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Global Variome shared LOVD

KCNC3 (potassium voltage-gated channel, Shaw-relate...)