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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:metal metabolism disorder
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Accession:DOID:896 term browser browse the term
Definition:Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Metal Metabolism, Inborn Error;   Metal Metabolism, Inborn Errors;   inborn metal metabolism disorder
 primary_id: MESH:D008664;   RDO:0001122
For additional species annotation, visit the Alliance of Genome Resources.



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metal metabolism disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO hypomagnesemia with secondary hypocalcemia, OMIM:602014 RGD PMID:12032568 RGD:1599669 NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
JBrowse link
acrodermatitis enteropathica term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a4 solute carrier family 39 member 4 ISO DNA:deletions, snp, missense mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary acrodermatitis enteropathica
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201100
ClinVar
CTD
OMIM
RGD
PMID:11035780 PMID:11254458 PMID:12032886 PMID:12068297 PMID:12787121 More... RGD:1599005 NCBI chr 7:108,333,380...108,337,553
Ensembl chr 7:108,333,381...108,337,553
JBrowse link
adult hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Adult hypophosphatasia OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:8406453 PMID:8954059 PMID:9452105 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
Albright's hereditary osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA
DNA:deletions:exon:multiple
DNA:splice-site mutation
ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
OMIM
ClinVar
RGD
PMID:8072545 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11095461 More... RGD:11568049, RGD:11568047 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Pthlh parathyroid hormone-like hormone ISS OMIM:103580 MouseDO NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
JBrowse link
atransferrinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide treatment ISO RGD PMID:20956801 RGD:11041615 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Tf transferrin ISO ClinVar Annotator: match by term: Atransferrinemia
ClinVar Annotator: match by term: Familial hypotransferrinemia
ClinVar Annotator: match by term: Transferrin variant chi
ClinVar Annotator: match by OMIM:209300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4625559 PMID:5711079 PMID:5927288 PMID:6585826 PMID:8317485 More... NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
autosomal dominant hypocalcemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked IEP RGD PMID:15721149 RGD:1599092 NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)
RGD PMID:7874174 PMID:20501971 PMID:15347804 PMID:8813042 RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
autosomal dominant hypocalcemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by OMIM:601198
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar
OMIM
PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8698326 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
autosomal dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 ISO DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human)
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant
DNA:missense mutation:cds:526C>T,p.R176W (human)
ClinVar Annotator: match by OMIM:193100
ClinVar
OMIM
RGD
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 More... RGD:1598933, RGD:10044239 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
autosomal recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO
ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
OMIM:241520 | OMIM:613312
ClinVar
MouseDO
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
childhood hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Childhood hypophosphatasia OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:8675582 PMID:10094560 PMID:10332035 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552 JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Familial Hypophosphatemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf23 fibroblast growth factor 23 TAS RGD PMID:12419819 RGD:1303356 NCBI chr 4:159,914,393...159,922,073
Ensembl chr 4:159,914,272...159,923,821
JBrowse link
Familial Hypophosphatemic Rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD
ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 More... NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT ClinVar PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 More... NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
familial periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO DNA:missense mutation:192T>A (human)
ClinVar Annotator: match by term: Familial periodic paralysis
ClinVar
RGD
PMID:17324964 PMID:19201608 PMID:22581653 PMID:12045162 RGD:1580802 NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445
JBrowse link
hemochromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1d1 aldo-keto reductase family 1, member D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18624455 NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
JBrowse link
G Alad aminolevulinate dehydratase treatment IDA RGD PMID:3679087 RGD:12904688 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 severity ISO DNA:mutation:cds:c.15599C>T,p.520L(human) RGD PMID:16446107 RGD:11035246 NCBI chr  X:19,463,146...19,486,526
Ensembl chr  X:19,463,171...19,486,519
JBrowse link
G B2m beta-2 microglobulin ISS OMIM:231100 MouseDO NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19252486 PMID:19252488 NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17258727 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO juvenile hereditary hemochromatosis, HFE2B, OMIM:602390
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
RGD
PMID:9536098 PMID:12469120 PMID:12915468 PMID:14630809 PMID:14670915 More... RGD:1599358 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hereditary hemochromatosis
ClinVar Annotator: match by term: HFE POLYMORPHISM
DNA:missense mutation: :p.C282Y (rs1800562) (human)
CTD Direct Evidence: marker/mechanism
associated with Immunologic Deficiency Syndromes;DNA:missense mutation: :p.C282Y (human)
DNA:missense mutation:cds:p.S65C (human)
ClinVar Annotator: match by OMIM:235200
ClinVar
CTD
RGD
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:7207252, RGD:14746965, RGD:10755540, RGD:8694411, RGD:8694372 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO juvenile hemochromatosis, type 2A, OMIM:602390
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16868025 PMID:17255318 PMID:19252486 PMID:21411349 PMID:14647275 RGD:1599478 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Hmox1 heme oxygenase 1 ISS OMIM:231100 MouseDO NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11439223 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD
ClinVar
PMID:16457665 PMID:21411349 NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link
G Tfr2 transferrin receptor 2 ISO hemochromatosis, type 3, HFE3, OMIM:604250
ClinVar Annotator: match by term: Hereditary hemochromatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar
CTD
RGD
PMID:9536098 PMID:11313241 PMID:12130528 PMID:12150153 PMID:14633868 More... RGD:1599386 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:promoter:-238G>A (rs361525) (human)
DNA:SNP:promoter:-308G>A (human)
CTD
RGD
PMID:16793930 PMID:11389006 PMID:16793930 RGD:12904656, RGD:12904050 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
hemochromatosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp2 bone morphogenetic protein 2 ISO OMIM NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:9536098 PMID:12469120 PMID:12915468 PMID:17576681 PMID:19214511 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 1 OMIM
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 PMID:15138164 More... NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 1 ClinVar NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 1
ClinVar Annotator: match by term: Hemochromatosis, type 1, modifier of
ClinVar PMID:12150153 PMID:16424658 PMID:22890139 PMID:23600741 PMID:24055163 More... NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
hemochromatosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Juvenile hemochromatosis
ClinVar Annotator: match by term: Hemochromatosis, type 2a, modifier of
ClinVar PMID:12915468 PMID:19214511 PMID:28492532 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Hemochromatosis type 2 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by OMIM:602390
ClinVar Annotator: match by term: Hemochromatosis type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
hemochromatosis type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd34a ankyrin repeat domain 34A ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
JBrowse link
G Hjv hemojuvelin BMP co-receptor ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar
OMIM
PMID:12482411 PMID:12891378 PMID:14647275 PMID:14982867 PMID:14982873 More... NCBI chr 2:184,065,970...184,069,851
Ensembl chr 2:184,065,970...184,069,850
JBrowse link
G Polr3gl RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,111,570...184,129,200
Ensembl chr 2:184,112,510...184,129,114
JBrowse link
G Txnip thioredoxin interacting protein ISO ClinVar Annotator: match by term: Hemochromatosis type 2A ClinVar PMID:28492532 NCBI chr 2:184,093,079...184,096,882
Ensembl chr 2:184,092,991...184,096,886
JBrowse link
hemochromatosis type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO ClinVar Annotator: match by term: Hemochromatosis type 2B
ClinVar Annotator: match by OMIM:613313
OMIM
ClinVar
PMID:12469120 PMID:12915468 PMID:15082576 PMID:15198949 PMID:19214511 More... NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
hemochromatosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hemochromatosis type 3
ClinVar Annotator: match by term: Hereditary hemochromatosis type 3
ClinVar Annotator: match by OMIM:604250
OMIM
ClinVar
PMID:9536098 PMID:10802645 PMID:11313241 PMID:12130528 PMID:12150153 More... NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
hemochromatosis type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc40a1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 4
ClinVar Annotator: match by OMIM:606069
OMIM
ClinVar
PMID:9536098 PMID:11431687 PMID:11518736 PMID:12730114 PMID:12857562 More... NCBI chr 9:48,033,526...48,053,876
Ensembl chr 9:48,033,526...48,051,481
JBrowse link
hemochromatosis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5 ClinVar PMID:14615048 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Hemochromatosis type 5
ClinVar Annotator: match by OMIM:615517
OMIM
ClinVar
PMID:11389486 PMID:14615048 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
G Tfr2 transferrin receptor 2 ISO ClinVar Annotator: match by term: Hereditary hemochromatosis type 5 ClinVar PMID:28492532 NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
JBrowse link
hereditary hypophosphatemic rickets with hypercalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO protein:decreased expression:plasma (mouse) RGD PMID:19570882 RGD:7242924 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO
ISS
OMIM:241530
DNA:deletions, snps:multiple (human)
MouseDO
RGD
PMID:19570882 PMID:16358215 RGD:7242924, RGD:7242925 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria
ClinVar Annotator: match by OMIM:241530
OMIM
ClinVar
PMID:2983203 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 More... NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
JBrowse link
hyperkalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep95 centrosomal protein 95 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,732,111...91,760,095
Ensembl chr10:91,732,111...91,760,092
JBrowse link
G Ddx5 DEAD-box helicase 5 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
JBrowse link
G Ern1 endoplasmic reticulum to nucleus signaling 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
JBrowse link
G Icam2 intercellular adhesion molecule 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
JBrowse link
G Lrrc37a leucine rich repeat containing 37A ISO ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1 ClinVar PMID:28492532 NCBI chr10:88,395,837...88,433,519
Ensembl chr10:88,396,663...88,433,323
JBrowse link
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
JBrowse link
G Prr29 proline rich 29 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,305,820...91,320,661
Ensembl chr10:91,305,723...91,310,439
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis
ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE
ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis
ClinVar Annotator: match by term: Periodic hyperkalemic paralysis
ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1
ClinVar Annotator: match by term: GAMSTORP DISEASE
DNA: missense mutation: exon 13 : p.T704M
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:170500
OMIM
ClinVar
CTD
RGD
PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659668 PMID:1659948 More... RGD:13208536 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
G Smurf2 SMAD specific E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
JBrowse link
G Tex2 testis expressed 2 ISO ClinVar Annotator: match by term: GAMSTORP DISEASE ClinVar PMID:28492532 NCBI chr10:91,436,629...91,546,240
Ensembl chr10:91,436,694...91,546,270
JBrowse link
hypermanganesemia with dystonia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO OMIM NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
hypermanganesemia with dystonia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Hypermanganesemia with dystonia 2 ClinVar
OMIM
PMID:25741868 PMID:28541650 PMID:29685658 NCBI chr15:45,376,806...45,423,549
Ensembl chr15:45,376,917...45,423,524
JBrowse link
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
CTD
ClinVar
PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 More... NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
JBrowse link
hypokalemic periodic paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO DNA, protein:missense mutations:cds:p.R528H,R1239H (human)
ClinVar Annotator: match by term: HypoPP
ClinVar Annotator: match by term: Hypokalemic periodic paralysis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1982519 PMID:9199552 PMID:9536098 PMID:10590402 PMID:11260227 More... RGD:1300372 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO RGD PMID:11207363 RGD:1600040 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: HypoPP
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11912116 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
Hypokalemic Periodic Paralysis, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1
ClinVar Annotator: match by OMIM:170400
OMIM
ClinVar
PMID:1982519 PMID:3037387 PMID:7650604 PMID:7847370 PMID:7897626 More... NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1
CTD
ClinVar
PMID:1310898 PMID:1659668 PMID:1659948 PMID:1918277 PMID:2173143 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
Hypokalemic Periodic Paralysis, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2
DNA: missense mutation : exon : p.R663H
DNA : missense mutation : exon : p.R672S
OMIM
ClinVar
RGD
PMID:1918277 PMID:7695243 PMID:9266738 PMID:10599760 PMID:10851391 More... RGD:13208531, RGD:13208529 NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated susceptibility ISO ClinVar Annotator: match by term: Hypophosphatasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... RGD:1599076 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G P2rx7 purinergic receptor P2X 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27466191 NCBI chr12:33,889,709...33,934,168
Ensembl chr12:33,879,745...33,934,619
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:241520
OMIM
ClinVar
PMID:9536098 PMID:17033621 PMID:17033625 PMID:17576681 PMID:21050253 More... NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
JBrowse link
Hypophosphatemic Rickets, Autosomal Recessive, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2
ClinVar Annotator: match by OMIM:613312
DNA:missense mutation:cds:p.Y901S (human)
ClinVar
OMIM
RGD
PMID:8960499 PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 More... RGD:6906930, RGD:6906931 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
infantile hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Infantile hypophosphatasia
ClinVar Annotator: match by OMIM:241500
OMIM
ClinVar
PMID:1409720 PMID:3174660 PMID:7833929 PMID:8406453 PMID:8675582 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Infantile hypophosphatasia ClinVar NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar Annotator: match by OMIM:602014
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2
ClinVar Annotator: match by OMIM:127000
OMIM
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:28492532 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link
Menkes disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha severity ISO ClinVar Annotator: match by term: Menkes kinky-hair syndrome
DNA:duplication:exon:
ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive
ClinVar Annotator: match by term: Menkes disease, mild
CTD Direct Evidence: marker/mechanism
DNA:deletion:exons, introns:p.G876delX2 (human)
DNA:mutations:multiple (human)
DNA:deletion:cds:p.A799_L800del (mouse)
DNA:snp:intron:c.4268+3A>T (human)
ClinVar Annotator: match by OMIM:309400
ClinVar
CTD
OMIM
RGD
PMID:7842019 PMID:7977350 PMID:8812725 PMID:8981948 PMID:9246006 More... RGD:734621, RGD:12879459, RGD:11340200, RGD:11252186, RGD:11252183, RGD:11252182 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Lox lysyl oxidase ISO
ISS
OMIM:309400 MouseDO
RGD
PMID:8638917 RGD:1581895 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
molybdenum cofactor deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
JBrowse link
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Molybdenum cofactor deficiency
CTD
ClinVar
NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency ClinVar PMID:10053004 PMID:28492532 NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
JBrowse link
molybdenum cofactor deficiency type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
G Mocs1 molybdenum cofactor synthesis 1 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A
ClinVar Annotator: match by term: Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
ClinVar Annotator: match by OMIM:252150
DNA:deletion:exon:722delT, 1523delAG (human)
DNA:missense mutations, splice site mutation, frameshift mutation: :multiple
ClinVar
OMIM
RGD
PMID:7660932 PMID:9536098 PMID:9634514 PMID:9731530 PMID:9921896 More... RGD:1558665, RGD:1600439, RGD:1624402 NCBI chr 9:11,547,533...11,573,935
Ensembl chr 9:11,547,531...11,567,790
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A ClinVar PMID:11746050 NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
JBrowse link
molybdenum cofactor deficiency type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B ClinVar NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Mocs2 molybdenum cofactor synthesis 2 ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group B
ClinVar Annotator: match by OMIM:252160
OMIM
ClinVar
PMID:1427786 PMID:9459218 PMID:10053003 PMID:10053004 PMID:11746050 More... NCBI chr 2:46,504,574...46,516,327
Ensembl chr 2:46,504,588...46,516,324
JBrowse link
molybdenum cofactor deficiency type C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C ClinVar
OMIM
PMID:9536098 PMID:11095995 PMID:12684523 PMID:12754701 PMID:16199547 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
JBrowse link
Normokalemic Periodic Paralysis, Potassium-Sensitive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive ClinVar PMID:15596759 PMID:18046642 PMID:19052238 PMID:19065518 PMID:19201608 More... NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by OMIM:304150
OMIM
ClinVar
RGD
PMID:7842019 PMID:8149649 PMID:8981948 PMID:9246006 PMID:9880610 More... RGD:11340205, RGD:11252184 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
Odontohypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Low alkaline phosphatase
ClinVar Annotator: match by term: Odontohypophosphatasia
ClinVar PMID:1409720 PMID:8675582 PMID:10094560 PMID:10332035 PMID:10679946 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
Perinatal Lethal Hypophosphatasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Hypophosphatasia, perinatal lethal ClinVar PMID:3174660 PMID:9781036 PMID:10679946 PMID:11745997 PMID:16199547 More... NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
JBrowse link
primary hypomagnesemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Primary hypomagnesemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar PMID:28041643 PMID:32581362 NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
JBrowse link
pseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO DNA:deletions:exon
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoparathyroidism
CTD
ClinVar
RGD
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8557265 More... RGD:11568042, RGD:11568048, RGD:11568047 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
pseudohypoparathyroidism type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
DNA:deletion, hypomethylation
DNA:mutations:exon, intron:multiple
DNA:hypomethylation:exon, promoter
CTD
ClinVar
OMIM
RGD
PMID:1505964 PMID:9876352 PMID:11029463 PMID:11784876 PMID:12024004 More... RGD:11568050, RGD:11568048, RGD:11568044, RGD:11568043 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Stx16 syntaxin 16 ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B ClinVar
OMIM
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532 NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
JBrowse link
Pseudohypoparathyroidism Type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C
ClinVar Annotator: match by term: PHP IC
ClinVar
OMIM
PMID:12970262 PMID:21488135 PMID:21525160 PMID:24033266 PMID:24651309 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
pseudopseudohypoparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:9506752 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by OMIM:154020
ClinVar
OMIM
RGD
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link
renal hypomagnesemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO OMIM NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Hypomagnesemia 4, renal
ClinVar Annotator: match by term: HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
OMIM
ClinVar
PMID:16788380 PMID:17671655 PMID:18349392 PMID:21673069 PMID:22992668 More... NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:25741868 PMID:27530400 More... NCBI chr 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia 6, renal
ClinVar Annotator: match by OMIM:613882
OMIM
ClinVar
PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
Thyrotoxic Periodic Paralysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1s calcium voltage-gated channel subunit alpha1 S susceptibility ISO ClinVar Annotator: match by term: Thyrotoxic periodic paralysis
ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15001631 PMID:28492532 NCBI chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO protein:increased expression:peripheral blood cell (human) RGD PMID:1752149 RGD:8655904 NCBI chr20:3,314,984...3,318,037 JBrowse link
Wilson disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Wilson disease ClinVar PMID:10441329 PMID:16283883 PMID:25741868 PMID:28492532 PMID:30655162 NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 7:24,313,810...25,479,307
Ensembl chr 7:24,312,843...25,477,693
JBrowse link
G Anxa5 annexin A5 IEP
ISO
protein:increased expression:liver:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21751376 PMID:21751376 RGD:10053726 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:10686180 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Asmt acetylserotonin O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr12:16,304,719...16,309,568
Ensembl chr12:16,304,719...16,309,568
JBrowse link
G Atp7a ATPase copper transporting alpha IEP mRNA:increased expression:hippocampus (rat) RGD PMID:27331785 RGD:11340212 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Atp7b ATPase copper transporting beta treatment IAGP
ISO
IDA
DNA:deletion:exon
ClinVar Annotator: match by term: Wilson disease
compared to LEA/Hok
DNA:mutations:multiple:
ClinVar Annotator: match by term: Wilson's disease
ClinVar Annotator: match by OMIM:277900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:893844 PMID:2224048 PMID:2333878 PMID:2409472 PMID:2610069 More... RGD:2292672, RGD:25823141, RGD:25823154, RGD:35316074, RGD:631728, RGD:25671604, RGD:1554300, RGD:21410182, RGD:734622 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Atp7bhts ATPase copper transporting beta; hepatitis IAGP compared to LEA/Hok RGD PMID:7951327 PMID:1561010 PMID:24358170 PMID:30733544 PMID:17303181 RGD:631728, RGD:25823154, RGD:35316074, RGD:25823141, RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:24,859,871...24,879,449
Ensembl chr 2:24,859,873...24,879,742
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO Wilson disease, COMMD1 type OMIA PMID:1380748 PMID:3343179 PMID:6639527 PMID:6710813 PMID:6869968 More... NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
JBrowse link
G Cp ceruloplasmin treatment ISO
IEP
CTD Direct Evidence: marker/mechanism
protein:decreased expression:serum
CTD
RGD
PMID:7849148 PMID:22243965 PMID:23519153 PMID:15511628 PMID:18556333 RGD:1554300, RGD:14401715 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:3348368 RGD:2307322 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase IDA RGD PMID:17303181 RGD:2292672 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lox lysyl oxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr18:45,964,311...46,041,477
Ensembl chr18:45,967,343...46,041,477
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023247 NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Ppp3cb protein phosphatase 3 catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr15:3,759,950...3,804,976
Ensembl chr15:3,760,030...3,804,981
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16831968 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 severity IDA RGD PMID:17259995 RGD:1601345 NCBI chr 1:159,892,946...159,896,789
Ensembl chr 1:159,892,859...159,896,794
JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23519153 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26241054 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25002079 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Hepatolenticular degeneration ClinVar PMID:24033266 PMID:25741868 PMID:28191890 PMID:28777933 PMID:29300972 More... NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
JBrowse link
X-linked dominant hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO mRNA:increased expression:long bone RGD PMID:22573557 RGD:7207229 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO mRNA:increased expression:long bone, osteoblast, osteocyte (mouse) RGD PMID:24710520 RGD:11560488 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant
DNA:mutation:exon:p.K496X(mouse)
DNA:deletions:3'UTR,promoter,exons:
DNA:mutations:cds,splice junction:
DNA:deletion,mutations:exon,splice junction:
ClinVar Annotator: match by OMIM:307800
OMIM
ClinVar
RGD
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 More... RGD:7207229, RGD:11556248, RGD:11556247, RGD:11556246 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
X-linked recessive hypophosphatemic rickets term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar
OMIM
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 More... NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        inherited metabolic disorder 2633
          metal metabolism disorder 120
            Familial Hypophosphatemia + 13
            Hyperzincemia and Hypercalprotectinemia 0
            Hyperzincemia with Functional Zinc Depletion 0
            Idiopathic Copper Toxicosis 0
            Menkes disease + 3
            Wilson disease + 46
            Zinc, Elevated Plasma 0
            acrodermatitis enteropathica 1
            atransferrinemia 2
            autosomal dominant hypocalcemia + 8
            familial periodic paralysis + 16
            hemochromatosis + 21
            hypermanganesemia with dystonia + 2
            hypophosphatasia + 3
            molybdenum cofactor deficiency + 5
            occipital horn syndrome 1
            primary hypomagnesemia + 7
            pseudohypoparathyroidism + 3
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          inherited metabolic disorder 2633
            metal metabolism disorder 120
              Familial Hypophosphatemia + 13
              Hyperzincemia and Hypercalprotectinemia 0
              Hyperzincemia with Functional Zinc Depletion 0
              Idiopathic Copper Toxicosis 0
              Menkes disease + 3
              Wilson disease + 46
              Zinc, Elevated Plasma 0
              acrodermatitis enteropathica 1
              atransferrinemia 2
              autosomal dominant hypocalcemia + 8
              familial periodic paralysis + 16
              hemochromatosis + 21
              hypermanganesemia with dystonia + 2
              hypophosphatasia + 3
              molybdenum cofactor deficiency + 5
              occipital horn syndrome 1
              primary hypomagnesemia + 7
              pseudohypoparathyroidism + 3
paths to the root