Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   Classical Phenylketonuria;   Folling Disease;   Folling's disease;   Hyperphenylalaninaemia;   Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism;   Hyperphenylalaninemia, non-pku;   Non Phenylketonuric Hyperphenylalaninemia;   Non-Phenylketonuric Hyperphenylalaninemias;   Oligophrenia Phenylpyruvica;   PAH Deficiency;   PKU;   Phenylalanine Hydroxylase Deficiency;   Phenylalanine Hydroxylase Deficiency Disease;   Phenylalanine Hydroxylase Deficiency Disease, Severe;   atypical PKU;   atypical phenylketonuria;   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: OMIM:261600
 xref: GARD:7383;   ICD9CM:270.1;   NCI:C81315;   ORDO:716
For additional species annotation, visit the Alliance of Genome Resources.


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 Cast calpastatin ISO mRNA, protein:decreased expression:brain RGD PMID:15863237 RGD:5509818 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase IEP protein:decreased activity:brain: RGD PMID:23232760 RGD:9068874 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP RGD PMID:24488205 RGD:10449120 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
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 PMID:25497597 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:28492532 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:forebrain (mouse) RGD PMID:16153867 RGD:13210766 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Hnf1a HNF1 homeobox A ISS OMIM:261600 MouseDO NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Nefh neurofilament heavy chain IEP protein:decreased expression:brain RGD PMID:7507064 RGD:9693700 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Phenylketonuria
DNA:missense mutation:exon:p.G46S (c.136G>A) (human)
ClinVar Annotator: match by OMIM:261600
ClinVar Annotator: match by term: Hyperphenylalaninemia, non-pku
DNA:missense mutation:cds:p.R408W (human)
ClinVar
OMIM
PMID:1146119 PMID:1301187 PMID:1301193 PMID:1301200 PMID:1301201 PMID:1301202 PMID:1301947 PMID:1307609 PMID:1312992 PMID:1349566 PMID:1349576 PMID:1355066 PMID:1358789 PMID:1360590 PMID:1363786 PMID:1363837 PMID:1363838 PMID:1555700 PMID:1601425 PMID:1609797 PMID:1639423 PMID:1671768 PMID:1671770 PMID:1671810 PMID:1671881 PMID:1672290 PMID:1672294 PMID:1679030 PMID:1682234 PMID:1682235 PMID:1682495 PMID:1769645 PMID:1915502 PMID:1968617 PMID:1971144 PMID:1971147 PMID:1975096 PMID:1975559 PMID:1978553 PMID:1981599 PMID:1997387 PMID:1998345 PMID:2006152 PMID:2014036 PMID:2014802 PMID:2018035 PMID:2035532 PMID:2044609 PMID:2063869 PMID:2071149 PMID:2173030 PMID:2309142 PMID:2323773 PMID:2564729 PMID:2574002 PMID:2574153 PMID:2606484 PMID:2816939 PMID:2840952 PMID:2884570 PMID:3008810 PMID:3093157 PMID:3615198 PMID:7545869 PMID:7556322 PMID:7581408 PMID:7668259 PMID:7707686 PMID:7726156 PMID:7741023 PMID:7766951 PMID:7766957 PMID:7807961 PMID:7833927 PMID:7833954 PMID:7844887 PMID:7860062 PMID:7913581 PMID:7914195 PMID:7915167 PMID:7981714 PMID:8019568 PMID:8051931 PMID:8068076 PMID:8069318 PMID:8088845 PMID:8095248 PMID:8097261 PMID:8097262 PMID:8097423 PMID:8098245 PMID:8116675 PMID:8222245 PMID:8268925 PMID:8304187 PMID:8320703 PMID:8364546 PMID:8364593 PMID:8370573 PMID:8401510 PMID:8406445 PMID:8445621 PMID:8487271 PMID:8528673 PMID:8533759 PMID:8535444 PMID:8535445 PMID:8556304 PMID:8592329 PMID:8632937 PMID:8659548 PMID:8682503 PMID:8739972 PMID:8807319 PMID:8807331 PMID:8829656 PMID:8830172 PMID:8831077 PMID:8860005 PMID:8889583 PMID:8889590 PMID:8981952 PMID:8990013 PMID:8990021 PMID:9012412 PMID:9048935 PMID:9101291 PMID:9169088 PMID:9254847 PMID:9284280 PMID:9298832 PMID:9359039 PMID:9380432 PMID:9391881 PMID:9399840 PMID:9399896 PMID:9429153 PMID:9450182 PMID:9450897 PMID:9452061 PMID:9452062 PMID:9521426 PMID:9540801 PMID:9575658 PMID:9600453 PMID:9634518 PMID:9642259 PMID:9781015 PMID:9792411 PMID:9799096 PMID:9860305 PMID:9949232 PMID:9950317 PMID:10196714 PMID:10200057 PMID:10234516 PMID:10356314 PMID:10356315 PMID:10394930 PMID:10408782 PMID:10429004 PMID:10471838 PMID:10472529 PMID:10479481 PMID:10484807 PMID:10495930 PMID:10527663 PMID:10541324 PMID:10598814 PMID:10679941 PMID:10685924 PMID:10693064 PMID:10767174 PMID:10875932 PMID:10947211 PMID:10980574 PMID:11051201 PMID:11139255 PMID:11142755 PMID:11161825 PMID:11161839 PMID:11180595 PMID:11214902 PMID:11243094 PMID:11244681 PMID:11295882 PMID:11326337 PMID:11328945 PMID:11385716 PMID:11461190 PMID:11461196 PMID:11486900 PMID:11524738 PMID:11581453 PMID:11588399 PMID:11678552 PMID:11696894 PMID:11708866 PMID:11914042 PMID:11935335 PMID:11999982 PMID:12126628 PMID:12173030 PMID:12210276 PMID:12409276 PMID:12501224 PMID:12542580 PMID:12554741 PMID:12640344 PMID:12644360 PMID:12649065 PMID:12655544 PMID:12655546 PMID:12655547 PMID:12655548 PMID:12655550 PMID:12655551 PMID:12655552 PMID:12655553 PMID:12655554 PMID:12765842 PMID:12836060 PMID:12905706 PMID:12971421 PMID:14654665 PMID:14681498 PMID:14722928 PMID:14726806 PMID:14741196 PMID:15159646 PMID:15171997 PMID:15319459 PMID:15459954 PMID:15464430 PMID:15503242 PMID:15557004 PMID:15589814 PMID:15633889 PMID:15793771 PMID:15943553 PMID:16051511 PMID:16143554 PMID:16165389 PMID:16167124 PMID:16176881 PMID:16198137 PMID:16199547 PMID:16253218 PMID:16256386 PMID:16290003 PMID:16402341 PMID:16504182 PMID:16545551 PMID:16601866 PMID:16755493 PMID:16765994 PMID:16770791 PMID:16875683 PMID:16879198 PMID:16931086 PMID:17096675 PMID:17221866 PMID:17408607 PMID:17502162 PMID:17513426 PMID:17557229 PMID:17627389 PMID:17630668 PMID:17846916 PMID:17924342 PMID:17935162 PMID:18247293 PMID:18294361 PMID:18299955 PMID:18321666 PMID:18346471 PMID:18394115 PMID:18447256 PMID:18493213 PMID:18538294 PMID:18590700 PMID:18592473 PMID:18798839 PMID:18937047 PMID:18937293 PMID:18956252 PMID:18985011 PMID:19015950 PMID:19036622 PMID:19062537 PMID:19099685 PMID:19147918 PMID:19292873 PMID:19394257 PMID:19444284 PMID:19609714 PMID:19786003 PMID:19913839 PMID:19915519 PMID:19948162 PMID:20017307 PMID:20063067 PMID:20082265 PMID:20123475 PMID:20140859 PMID:20179079 PMID:20187763 PMID:20188615 PMID:20301677 PMID:20457534 PMID:20920871 PMID:20937381 PMID:21147011 PMID:21154324 PMID:21228398 PMID:21307867 PMID:21445337 PMID:21462123 PMID:21527427 PMID:21811977 PMID:21820508 PMID:21871829 PMID:21890392 PMID:21953985 PMID:22106832 PMID:22112818 PMID:22300847 PMID:22330942 PMID:22333022 PMID:22388642 PMID:22513348 PMID:22526846 PMID:22698810 PMID:22763404 PMID:22841515 PMID:22921945 PMID:22975760 PMID:22995991 PMID:23062575 PMID:23074961 PMID:23220018 PMID:23225039 PMID:23271928 PMID:23357515 PMID:23430547 PMID:23430859 PMID:23430918 PMID:23500595 PMID:23514811 PMID:23559577 PMID:23690520 PMID:23716935 PMID:23764561 PMID:23792259 PMID:23842451 PMID:23856132 PMID:23932990 PMID:23942198 PMID:24033266 PMID:24048906 PMID:24078561 PMID:24130151 PMID:24190797 PMID:24296287 PMID:24301756 PMID:24304607 PMID:24350308 PMID:24368688 PMID:24401910 PMID:24510552 PMID:24510568 PMID:24661517 PMID:24667082 PMID:24705691 PMID:24765287 PMID:24789341 PMID:24882081 PMID:24939588 PMID:24941924 PMID:25003100 PMID:25007885 PMID:25085675 PMID:25087612 PMID:25155776 PMID:25323746 PMID:25333069 PMID:25453233 PMID:25456745 PMID:25525159 PMID:25550961 PMID:25551302 PMID:25563416 PMID:25596310 PMID:25741868 PMID:25750018 PMID:25757997 PMID:25863075 PMID:25882749 PMID:25894915 PMID:25920592 PMID:25952249 PMID:26206375 PMID:26210745 PMID:26322415 PMID:26351554 PMID:26413448 PMID:26467025 PMID:26481238 PMID:26503515 PMID:26542770 PMID:26589311 PMID:26600521 PMID:26655635 PMID:26666653 PMID:26701937 PMID:26803807 PMID:26982749 PMID:26990548 PMID:27121329 PMID:27175306 PMID:27243974 PMID:27264808 PMID:27308838 PMID:27413125 PMID:27469133 PMID:27578510 PMID:27620137 PMID:27623981 PMID:27682710 PMID:28174686 PMID:28400091 PMID:28492532 PMID:28653649 PMID:28676969 PMID:28754886 PMID:28771436 PMID:28851938 PMID:28915855 PMID:28982351 PMID:29144512 PMID:29176022 PMID:29288420 PMID:29316886 PMID:29317692 PMID:29390883 PMID:29413232 PMID:29473999 PMID:29499199 PMID:29653233 PMID:29654578 PMID:29684050 PMID:29749107 PMID:29997390 PMID:30037505 PMID:30050108 PMID:30067850 PMID:30159852 PMID:30311390 PMID:30367646 PMID:30389586 PMID:30459323 PMID:30612563 PMID:30648773 PMID:30747360 PMID:30838026 PMID:30887117 PMID:30904546 PMID:30963030 PMID:31102715 PMID:31178897 PMID:31332730 PMID:31355225 PMID:31445982 PMID:31623983 PMID:31737040 PMID:32860008, PMID:1361103, PMID:8829656, PMID:17443661, PMID:2884570 RGD:1601521, RGD:13207451, RGD:1601523, RGD:1358249 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pcbd1 pterin-4 alpha-carbinolamine dehydratase 1 ISO ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia ClinVar NCBI chr20:30,689,690...30,696,465
Ensembl chr20:30,690,810...30,696,476
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO DNA:point mutation:exon:R25Q, R16C RGD PMID:8178819 RGD:1601576 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
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
CTD
ClinVar
PMID:25526675, PMID:2116088 RGD:1601577 NCBI chr14:70,164,682...70,178,284
Ensembl chr14:70,164,650...70,178,284
JBrowse link
BH4-deficient hyperphenylalaninemia A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A ClinVar PMID:7981714 PMID:8088845 PMID:8268925 PMID:8533759 PMID:8830172 PMID:8981952 PMID:9012412 PMID:9298832 PMID:9399896 PMID:9429153 PMID:9634518 PMID:10234516 PMID:10394930 PMID:10598814 PMID:10693064 PMID:10980574 PMID:11385716 PMID:11708866 PMID:12655553 PMID:14722928 PMID:15464430 PMID:16051511 PMID:16198137 PMID:17096675 PMID:17924342 PMID:17935162 PMID:18294361 PMID:18299955 PMID:21147011 PMID:21307867 PMID:21953985 PMID:22698810 PMID:23357515 PMID:23500595 PMID:23792259 PMID:23842451 PMID:23932990 PMID:24350308 PMID:24368688 PMID:25087612 PMID:25333069 PMID:25741868 PMID:26467025 PMID:26542770 PMID:26600521 PMID:26666653 PMID:27121329 PMID:27243974 PMID:27620137 PMID:28492532 PMID:29288420 PMID:30037505 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pts 6-pyruvoyl-tetrahydropterin synthase ISO ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A
ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency
ClinVar Annotator: match by OMIM:261640
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3297709 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:9159737 PMID:9222757 PMID:9450907 PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:18505119 PMID:19280650 PMID:19350512 PMID:20059486 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25087612 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: 6-pyruvoyl-tetrahydropterin synthase deficiency ClinVar PMID:7563095 PMID:20059486 NCBI chr 8:54,991,501...54,999,454
Ensembl chr 8:54,992,841...54,994,871
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 ClinVar Annotator: match by term: GTP cyclohydrolase I deficiency
ClinVar Annotator: match by term: Hyperphenylalaninemia, BH4-Deficient, B
ClinVar Annotator: match by OMIM:233910
OMIM
ClinVar
PMID:1530300 PMID:7730309 PMID:7869202 PMID:8852666 PMID:9328244 PMID:9536098 PMID:9667588 PMID:10984668 PMID:12391354 PMID:12707079 PMID:15303002 PMID:15389992 PMID:17044972 PMID:17576681 PMID:17898029 PMID:18044725 PMID:19332422 PMID:19491146 PMID:23430498 PMID:24033266 PMID:24993959 PMID:25125585 PMID:25398234 PMID:25416181 PMID:25497597 PMID:25741868 PMID:26230973 PMID:26467025 PMID:27185167 PMID:27217339 PMID:27246466 PMID:27313105 PMID:28492532 PMID:30314816 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
Hyperphenylalaninemia with Primapterinuria 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, BH4-deficient, D
ClinVar Annotator: match by term: Hyperphenylalaninemia, bh4-deficient, d
ClinVar Annotator: match by OMIM:264070
OMIM
ClinVar
PMID:8352282 PMID:8618906 PMID:9585615 PMID:24204001 PMID:24848070 PMID:25333069 PMID:25741868 PMID:27246466 PMID:28492532 NCBI chr20:30,689,690...30,696,465
Ensembl chr20:30,690,810...30,696,476
JBrowse link
Hyperphenylalaninemia, BH4-Deficient, 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 OMIM
ClinVar
PMID:2116088 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9341885 PMID:9536098 PMID:9744478 PMID:11153907 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26006720 PMID:28492532 NCBI chr14:70,164,682...70,178,284
Ensembl chr14:70,164,650...70,178,284
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 PMID:26830550 NCBI chr 8:54,954,261...54,961,271
Ensembl chr 8:54,954,226...54,961,265
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: Hyperphenylalaninemia, mild, non-bh4-deficient ClinVar
OMIM
PMID:9159748 PMID:25741868 PMID:28132689 PMID:28794131 PMID:28892570 PMID:30139987 PMID:32333439 NCBI chr20:26,893,139...26,913,041
Ensembl chr20:26,893,016...26,913,016
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 PMID:10527663 PMID:17924342 PMID:18590700 PMID:21871829 PMID:22526846 PMID:27469133 PMID:28492532 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
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 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Psph phosphoserine phosphatase IEP RGD PMID:7201630 RGD:2308873 NCBI chr12:30,514,128...30,526,551
Ensembl chr12:30,514,112...30,526,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          Metabolic Brain Diseases, Inborn 517
            phenylketonuria 14
              BH4-deficient hyperphenylalaninemia A 4
              BH4-deficient hyperphenylalaninemia B 1
              HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
              Hyperphenylalaninemia with Primapterinuria 1
              Hyperphenylalaninemia, BH4-Deficient, C 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 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                phenylketonuria 14
                  BH4-deficient hyperphenylalaninemia A 4
                  BH4-deficient hyperphenylalaninemia B 1
                  HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 1
                  Hyperphenylalaninemia with Primapterinuria 1
                  Hyperphenylalaninemia, BH4-Deficient, C 1
                  Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency 1
                  Hyperphenylalaninemia, Non-Pku Mild 1
                  Maternal Phenylketonuria 2
paths to the root