Phenotypes for disease #00535 (IRIDA (anemia, iron deficiency, iron-refractory (IRIDA)), OMIM:206200)

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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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47 entries on 1 page. Showing entries 1 - 47.

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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
0000020234	IRIDA	-	-	Familial, autosomal recessive	15y	-	-	-	-	Bernard Grandchamp	00024132
0000020235	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Bernard Grandchamp	00024133
0000020236	IRIDA	-	-	Familial, autosomal recessive	3y	-	-	-	-	Bernard Grandchamp	00024134
0000020237	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024135
0000020238	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024136
0000020239	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024137
0000020240	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024138
0000020241	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024139
0000020242	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024140
0000020243	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024141
0000020244	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024142
0000020245	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024143
0000020246	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024144
0000020247	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024145
0000020248	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024146
0000020249	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024147
0000020250	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024148
0000020251	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024149
0000020252	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024150
0000020253	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024151
0000020254	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024152
0000020255	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024153
0000020256	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024154
0000020257	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024155
0000020258	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024156
0000020259	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024157
0000020260	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024158
0000020261	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024159
0000020262	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024160
0000020263	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024161
0000020264	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024162
0000020265	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024163
0000020266	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024164
0000020267	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024165
0000020268	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024166
0000020269	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024167
0000020270	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024168
0000020271	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024169
0000020272	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024170
0000020273	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024171
0000020274	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024172
0000020275	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024173
0000020276	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024174
0000020277	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024175
0000020278	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024176
0000020279	IRIDA	-	-	Familial, autosomal recessive	-	-	-	-	-	Mayka Sanchez	00024177
0000020280	normal bone marrow biopsy, intramuscular injection of iron has only provided a partial increase in hemoglobin; Age/Diagnosis 2y	-	-	Isolated (sporadic)	13y	-	-	-	-	Mayka Sanchez	00024178

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