Phenotypes for disease #00221 (PKU (phenylketonuria (PKU)), OMIM:261600)

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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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2507 entries on 26 pages. Showing entries 1 - 100.

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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
0000001882	classic PKU	-	-	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00003036
0000022000	mild PKU; pre-treatment Phe level 608 uM	-	-	Unknown	-	-	-	-	-	Naser Ajami	00025488
0000143301	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181048
0000143302	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181050
0000143325	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Belen Perez	00181072
0000235161	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309846
0000235162	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309847
0000235163	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309848
0000235164	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309849
0000235166	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309851
0000235169	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309854
0000235170	see paper; ...	phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00309855
0000294438	see paper; ...	mild PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401668
0000294439	see paper; ...	classic PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401669
0000294440	see paper; ...	mild PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401670
0000294441	see paper; ...	classic PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401671
0000294442	see paper; ...	classic PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401672
0000294443	see paper; ...	mild PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401673
0000294444	see paper; ...	classic PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401674
0000294445	see paper; ...	mild PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401675
0000294446	see paper; ...	mild PKU	PKU	Familial, autosomal recessive	-	-	-	-	-	Johan den Dunnen	00401676
0000298478	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	00y01m	00y01m	-	-	-	Liliana Fernández	00405979
0000298479	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	00y01m	00y01m	-	-	-	Liliana Fernández	00405980
0000298480	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	00y01m	00y01m	-	-	-	Liliana Fernández	00405981
0000298582	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406084
0000298583	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406085
0000298584	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406086
0000298585	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406087
0000298586	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406088
0000298587	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406089
0000298588	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406090
0000298589	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406091
0000298590	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406092
0000298591	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406093
0000298592	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406094
0000298593	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406095
0000298594	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406096
0000298595	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406097
0000298596	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406098
0000298597	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406099
0000298598	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406100
0000298599	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406101
0000298600	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406102
0000298601	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406103
0000298602	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406104
0000298603	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406105
0000298604	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406106
0000298605	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406107
0000298606	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406108
0000298607	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406109
0000298608	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406110
0000298609	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406111
0000298610	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406112
0000298611	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406113
0000298612	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406114
0000298613	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406115
0000298614	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406116
0000298615	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406117
0000298616	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406118
0000298617	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406119
0000298618	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406120
0000298619	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406121
0000298620	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406122
0000298621	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406123
0000298622	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406124
0000298623	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406125
0000298624	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406126
0000298625	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406127
0000298626	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406128
0000298627	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406129
0000298628	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406130
0000298629	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406131
0000298630	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406132
0000298631	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406133
0000298632	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406134
0000298633	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406135
0000298634	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406136
0000298635	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406137
0000298636	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406138
0000298637	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406139
0000298638	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406140
0000298639	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406141
0000298640	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406142
0000298641	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406143
0000298642	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406144
0000298643	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406145
0000298644	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406146
0000298645	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406147
0000298646	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406148
0000298647	clinical diagnosis	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406149
0000298648	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406150
0000298649	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406151
0000298650	clinical diagnosis	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406152
0000298651	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406153
0000298652	newborn screening	mild phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406154
0000298653	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406155
0000298654	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406156
0000298655	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406157
0000298656	newborn screening	classic phenylketonuria	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406158
0000298657	newborn screening	mild hyperphenylalaninemia	PKU	Familial, autosomal recessive	-	-	-	-	-	Liliana Fernández	00406159

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Global Variome shared LOVD

PAXIP1 (PAX interacting (with transcription-activa...))