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: hypochromic anemia
Accession: DOID:11759
browse the term
Definition: An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. (DO)
Synonyms: exact_synonym: chloroses; chlorosis; hypochromic anemias
xref: ICD10CM:D50 ; MESH:D000747 ; MONDO:0001357 ; NCI:C34380
For additional species annotation, visit the
Alliance of Genome Resources .
G
Slc11a2
solute carrier family 11 member 2
ISO IAGP
DNA:missense mutation:cds:p.G185R (human) DNA:deletion, missense mutation:cds:428_430delGTG, p.G212V (human)
RGD
PMID:9241278 PMID:16439678 PMID:9448300
RGD:9743973 , RGD:1580430 , RGD:729808
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Irx5
iroquois homeobox 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581230
NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
G
Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11110675
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tfrc
transferrin receptor
ISO
mRNA,protein:decreased expression: erythrocyte:
RGD
PMID:18552213
RGD:11062089
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Tnf
tumor necrosis factor
ISO
associated with Arthritis, Rheumatoid
RGD
PMID:18205195
RGD:10450526
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Slc11a2
solute carrier family 11 member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Microcytic anemia with liver iron overload
CTD ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 PMID:16439678 PMID:25741868 PMID:28492532 PMID:35457224 More...
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Steap3
STEAP3 metalloreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519
G
Slc11a2
solute carrier family 11 member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Steap3
STEAP3 metalloreductase
ISO
ClinVar Annotator: match by term: Hypochromic microcytic anemia with iron overload 2
OMIM ClinVar
PMID:22031863
NCBI chr13:31,351,954...31,397,344
Ensembl chr13:31,351,954...31,396,519
G
App
amyloid beta precursor protein
IEP
mRNA:decreased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
G
Atp7a
ATPase copper transporting alpha
severity
ISO IEP
mRNA:increased expression:duodenum (mouse) mRNA:increased expression:small intestine mucosa (rat) DNA:deletion:cds:p.A799_L800del (mouse)
RGD
PMID:23776592 PMID:15637178 PMID:23776592
RGD:11252172 , RGD:2315589 , RGD:11252172
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
G
C1qa
complement C1q A chain
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534
G
Crp
C-reactive protein
IEP
protein:increased expression:plasma
RGD
PMID:19730160
RGD:5131463
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Cst3
cystatin C
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Fn1
fibronectin 1
IEP
mRNA:increased expression:hippocampus:
RGD
PMID:18723004
RGD:2301196
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
G
Gpx1
glutathione peroxidase 1
treatment
IEP ISO
associated with Renal Insufficiency, Chronic
RGD
PMID:7861256 PMID:24691014
RGD:11352760 , RGD:11352819
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:plasma:
RGD
PMID:25097522
RGD:11059505
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
G
Hamp
hepcidin antimicrobial peptide
ISO IEP
mRNA:decreased expression:liver
RGD
PMID:17218383 PMID:22457245
RGD:11041606 , RGD:11041634
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hfe
homeostatic iron regulator
ISO
associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)
RGD
PMID:29194702
RGD:14701052
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hp
haptoglobin
ISO
protein:decreased expression:serum
RGD
PMID:647925
RGD:11041798
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Il6
interleukin 6
IEP
associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)
RGD
PMID:18808386
RGD:11062011
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Ireb2
iron responsive element binding protein 2
IEP
mRNA:increased expression:duodenal mucosa (rat) protein:altered activity:intestinal villus of duodenum (rat)
RGD
PMID:18549630 PMID:10095770
RGD:12904038 , RGD:12910699
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
G
Itga2
integrin subunit alpha 2
ISO
DNA:SNP: :807C>T (human)
RGD
PMID:12225391
RGD:11530068
NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
G
Kat5
lysine acetyltransferase 5
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:18723004
RGD:2301196
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
G
Pon1
paraoxonase 1
treatment
ISO
protein:decreased activity:serum (human)
RGD
PMID:16684543 PMID:26926576
RGD:11552586 , RGD:11553834
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Slc11a2
solute carrier family 11 member 2
IEP ISO
protein:increased expression:nasal cavity olfactory epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17116712 PMID:17116743
RGD:2311409
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Slc4a1
solute carrier family 4 member 1 (Diego blood group)
IEP
protein:decreased expression:erythrocyte, membrane (rat)
RGD
PMID:1317772
RGD:10450513
NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17057260
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
G
Tf
transferrin
susceptibility
ISO
DNA:missense mutation:exon:p.G277S ClinVar Annotator: match by term: Iron deficiency anemia
ClinVar RGD
PMID:11703331 PMID:12752114 PMID:16398662 PMID:25741868 PMID:28492532 PMID:11703331 More...
RGD:1601513
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tfrc
transferrin receptor
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism mRNA:increased expression:placenta:
CTD RGD
PMID:16733738 PMID:17162259 PMID:17163184 PMID:15104997 PMID:17877204 PMID:26303393 More...
RGD:11062096 , RGD:11062105 , RGD:11062104
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Tmprss6
transmembrane serine protease 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18408718 PMID:22169218
NCBI chr 7:109,991,008...110,021,626
Ensembl chr 7:109,985,931...110,021,624
G
Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:rs1800629 (human)
RGD
PMID:18716131
RGD:10450563
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Alas2
5'-aminolevulinate synthase 2
onset
ISO
DNA:mutations:exons:p.K299Q,A172T(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:missense mutations:cds:p.R452H, R452C, K156E(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
OMIM CTD ClinVar RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 PMID:35093382 PMID:7560104 PMID:11110715 PMID:21252495 More...
RGD:11035241 , RGD:11035243 , RGD:11035244
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
G
Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
G
Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all