Phenotypes for disease #01916 (methemoglobinemia (cytochrome-b5 reductase deficiency), OMIM:250800)

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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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90 entries on 1 page. Showing entries 1 - 90.

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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
0000067654	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00088191
0000067656	-	-	-	Familial, autosomal recessive	-	00y03m	-	-	-	Joaquin Brintrup	00088193
0000069514	methemoglobinemia type I	-	-	Familial, autosomal recessive	42y	-	-	-	-	Joaquin Brintrup	00090172
0000069515	methemoglobinemia type I	-	-	Familial, autosomal recessive	13y	-	-	-	-	Joaquin Brintrup	00090173
0000069516	methemoglobinemia type I	-	-	Familial, autosomal recessive	35y	-	-	-	-	Joaquin Brintrup	00090174
0000069517	methemoglobinemia type ?	-	-	Familial, autosomal recessive	1m	-	-	-	-	Joaquin Brintrup	00090175
0000069518	methemoglobinemia type I	-	-	Familial, autosomal recessive	31y	-	-	-	-	Joaquin Brintrup	00090176
0000069519	methemoglobinemia type II	-	-	Familial, autosomal recessive	1y	-	-	-	-	Joaquin Brintrup	00090177
0000069520	methemoglobinemia type I	-	-	Familial, autosomal recessive	2m	-	-	-	-	Joaquin Brintrup	00090178
0000069521	methemoglobinemia type I; see paper ..., all carriers have reduced MetHb reductase activity	-	-	Familial, autosomal recessive	12y	-	-	-	-	Joaquin Brintrup	00090179
0000069522	methemoglobinemia type II	-	-	Familial, autosomal recessive	3m	-	-	-	-	Joaquin Brintrup	00090180
0000069523	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090185
0000069524	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090186
0000069525	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090187
0000069526	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090188
0000069527	methemoglobinemia type I; MetHb reductase 0.4/0.8 (IU/g Hb), see paper ....	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090189
0000069528	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090190
0000069529	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090191
0000069530	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090192
0000069531	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090193
0000069532	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090194
0000069533	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090195
0000069534	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090196
0000069535	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090197
0000069536	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090198
0000069537	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090199
0000069538	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090200
0000069539	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090201
0000069540	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090202
0000069541	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090203
0000069542	methemoglobinemia type I; MetHb reductase 0.2 IU/g Hb; see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090204
0000069543	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090205
0000069544	methemoglobinemia type II; NADH-Cytb5 reductase activity reduced to 0.02; see paper ....	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090206
0000069545	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090207
0000069546	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090208
0000069547	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090209
0000069549	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090211
0000069550	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090212
0000069551	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090213
0000069552	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090214
0000069553	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090215
0000069554	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090216
0000069555	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090217
0000069556	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090218
0000069557	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090219
0000069558	methemoglobinemia type II; see paper; ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090220
0000069559	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090221
0000069560	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090222
0000069561	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090223
0000069562	methemoglobinemia type I; MetHb reductase 0.1 (IU/g Hb); see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090224
0000069563	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090225
0000069564	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090226
0000069565	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090227
0000069566	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090228
0000069567	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090229
0000069568	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090230
0000069569	methemoglobinemia type II	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090231
0000069570	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090232
0000069571	methemoglobinemia type I; MetHb reductase 0.1/0.1 (IU/g Hb); see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090233
0000069572	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090234
0000069573	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090235
0000069574	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090236
0000069575	methemoglobinemia type I; MetHb reductase 0.1/0 (IU/g Hb); see paper ....	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090237
0000069576	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090238
0000069577	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090239
0000069578	methemoglobinemia type I	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090240
0000069579	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090241
0000069580	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090242
0000069581	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090243
0000069582	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090244
0000069583	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090245
0000069584	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090246
0000069585	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090247
0000069586	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090248
0000069587	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090249
0000069588	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090250
0000069589	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090251
0000069590	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090252
0000069591	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090253
0000069592	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090254
0000069593	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090255
0000069594	methemoglobinemia type I; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090256
0000069595	methemoglobinemia type II; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090257
0000069596	methemoglobinemia type II; see paper; …	-	-	Familial, autosomal recessive	-	-	-	-	-	Joaquin Brintrup	00090258
0000069597	methemoglobinemia type I; MetHb reductase 0.2 IU/g Hb; see paper ....	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00090259
0000069600	methemoglobinemia type I, cyanosis lips/oral mucosa/nail beds, not mentally retarded, see paper ...	-	-	Familial, autosomal recessive	40y	-	-	-	-	Johan den Dunnen	00090262
0000069601	methemoglobinemia type III, 24y/26y both moderate cyanosis, without mental or neurological abnormalities, see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00090263
0000069603	methemoglobinemia type I, see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00090265
0000069604	methemoglobinemia type I, see paper ...	-	-	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00090266
0000268961	HP:0001252; HP:0002151; HP:0001631; HP:0006892; HP:0002280; HP:0001263; HP:0025336; HP:0032989; HP:0001627; HP:0001629	-	Methemoglobinemia (OMIM 250800)	Familial, autosomal recessive	-	-	-	-	-	Wenjuan Qiu	00373737

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