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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:phenylketonuria
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Accession:DOID:9281 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)
Synonyms:exact_synonym: BH4 deficiency;   Folling Disease;   Folling's disease;   Hyperphenylalaninaemia;   Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism;   Hyperphenylalaninemia, non-pku;   Non Phenylketonuric Hyperphenylalaninemia;   Oligophrenia Phenylpyruvica;   PAH deficiency;   PKU;   atypical PKU;   atypical phenylketonuria;   classical phenylketonuria;   non-phenylketonuric hyperphenylalaninemias;   phenylalanine hydroxylase deficiency;   phenylalanine hydroxylase deficiency disease;   phenylalanine hydroxylase deficiency disease, severe;   phenylalaninemia;   phenylketonuria I;   phenylketonuria II;   phenylketonuria type 2;   phenylketonurias;   tetrahydrobiopterin deficiency
 narrow_synonym: BH4-DEFICIENT HYPERPHENYLALANINEMIA;   HPA, NON-PKU MILD;   HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT;   HYPERPHENYLALANINEMIA, NON-PKU MILD;   maternal phenylketonuria
 primary_id: MESH:D010661
 alt_id: MIM:261600
 xref: GARD:7383;   ICD9CM:270.1;   NCI:C81315;   ORDO:716


show annotations for term's descendants           Sort by:
phenylketonuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:1301187 PMID:9634518 PMID:11434725 PMID:28492532 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Cast calpastatin ISO mRNA, protein:decreased expression:brain RGD PMID:15863237 RGD:5509818 NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659 		JBrowse link
G Cat catalase IEP protein:decreased activity:brain: RGD PMID:23232760 RGD:9068874 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:24488205 RGD:10449120 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric ClinVar PMID:15389992 PMID:19491146 PMID:24993959 PMID:25125585 PMID:25398234 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:forebrain (mouse) RGD PMID:16153867 RGD:13210766 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hnf1a HNF1 homeobox A ISS OMIM:261600 MouseDO NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Nefh neurofilament heavy chain IEP protein:decreased expression:brain RGD PMID:7507064 RGD:9693700 NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Pah phenylalanine hydroxylase ISO
ISS		 DNA:missense mutation:cds:p.R408W (human)
DNA:missense mutation:exon:p.G46S (c.136G>A) (human)
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
CTD Direct Evidence: marker/mechanism
OMIM:261600
ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 More... RGD:1601521, RGD:1601523, RGD:1358249, RGD:13207451 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292 		JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO DNA:point mutation:exon:R25Q, R16C
ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric		 ClinVar
RGD		 PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... RGD:1601576 NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO quinoid dihydropteridine reductase deficiency; DNA:insertion:exon:c.390insACT
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria type 2		 CTD
ClinVar
RGD		 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9744478 PMID:11153907 More... RGD:1601577 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Phenylketonuria ClinVar PMID:25741868 NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467 		JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796 		JBrowse link
G C8h11orf52 similar to human chromosome 11 open reading frame 52 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479 		JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514 		JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533 		JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330 		JBrowse link
G Mir34b microRNA 34b ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327 		JBrowse link
G Mir34c microRNA 34c ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802 		JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency ClinVar PMID:7833954 PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656 		JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819 		JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855 		JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit A beta ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO
ISS		 ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency
OMIM:261640
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:25741868 NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Sik2 salt-inducible kinase 2 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415 		JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7563095 PMID:19830588 PMID:20059486 PMID:25741868 PMID:28492532 More... NCBI chr 8:50,908,161...50,913,202
Ensembl chr 8:50,909,052...50,913,217 		JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:28492532 NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729 		JBrowse link
BH4-deficient hyperphenylalaninemia B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO
ISS		 ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
OMIM:233910
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 More... NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B ClinVar PMID:7493990 PMID:8707300 PMID:9450907 PMID:10319579 PMID:11388593 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
BH4-deficient hyperphenylalaninemia C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qdpr quinoid dihydropteridine reductase ISO ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency OMIM
ClinVar		 PMID:1283784 PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 More... NCBI chr14:65,670,251...65,683,853
Ensembl chr14:65,670,131...65,683,854 		JBrowse link
BH4-deficient hyperphenylalaninemia D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY | ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-deficient, D | ClinVar Annotator: match by term: Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency OMIM
ClinVar		 PMID:958615 PMID:8352282 PMID:8618906 PMID:9585615 PMID:9760199 More... NCBI chr20:29,037,545...29,044,322
Ensembl chr20:28,953,864...29,044,292
Ensembl chr20:28,953,864...29,044,292 		JBrowse link
Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency ClinVar PMID:7493990 PMID:8178819 PMID:10220141 PMID:22237589 PMID:25741868 More... NCBI chr 8:50,870,838...50,877,869
Ensembl chr 8:50,870,841...50,877,869 		JBrowse link
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc12 DnaJ heat shock protein family (Hsp40) member C12 ISO ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: Hyperphenylalaninemia, mild, non-bh4-deficient OMIM
ClinVar		 PMID:9159748 PMID:25741868 PMID:28132689 PMID:28492532 PMID:28794131 More... NCBI chr20:25,246,744...25,267,508
Ensembl chr20:25,223,144...25,267,521 		JBrowse link
Hyperphenylalaninemia, Non-Pku Mild term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD ClinVar PMID:1301200 PMID:8364546 PMID:9450897 PMID:9634518 PMID:10234516 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
Maternal Phenylketonuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pah phenylalanine hydroxylase ISO RGD PMID:14654659 RGD:1601526 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Psph phosphoserine phosphatase IEP RGD PMID:7201630 RGD:2308873 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        inherited metabolic disorder 6605
          Metabolic Brain Diseases, Inborn 1380
            phenylketonuria 42
              BH4-deficient hyperphenylalaninemia A 28
              BH4-deficient hyperphenylalaninemia B 2
              BH4-deficient hyperphenylalaninemia C 1
              BH4-deficient hyperphenylalaninemia D 1
              HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
              Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
              Hyperphenylalaninemia, Non-Pku Mild 1
              Maternal Phenylketonuria 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            Metabolic Brain Diseases 1512
              Metabolic Brain Diseases, Inborn 1380
                phenylketonuria 42
                  BH4-deficient hyperphenylalaninemia A 28
                  BH4-deficient hyperphenylalaninemia B 2
                  BH4-deficient hyperphenylalaninemia C 1
                  BH4-deficient hyperphenylalaninemia D 1
                  HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
                  Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
                  Hyperphenylalaninemia, Non-Pku Mild 1
                  Maternal Phenylketonuria 2
paths to the root