RHD

Summary

RHD (Rh blood group D antigen, HGNC:10009) is a protein-coding gene on chromosome 1p36.11, encoding Blood group Rh(D) polypeptide (Q02161). May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6007 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Rh deficiency syndrome (Supportive, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 61 total
• Phenotypes (HPO): 28
• Druggable target: yes
• MANE Select transcript: NM_016124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10009
Approved symbol	RHD
Name	Rh blood group D antigen
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D, SLC42A5
Ensembl gene	ENSG00000187010
Ensembl biotype	protein_coding
OMIM	111680
Entrez	6007

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000328664, ENST00000342055, ENST00000357542, ENST00000417538, ENST00000423253, ENST00000423810, ENST00000454452, ENST00000564398, ENST00000568195, ENST00000622561, ENST00000648012

RefSeq mRNA: 8 — MANE Select: NM_016124 NM_001127691, NM_001282867, NM_001282868, NM_001282869, NM_001282870, NM_001282871, NM_001282872, NM_016124

CCDS: CCDS262, CCDS53285, CCDS60027, CCDS60028, CCDS60029, CCDS60030, CCDS60031

Canonical transcript exons

ENST00000328664 — 10 exons

Exon	Start	End
ENSE00001333242	25306596	25306729
ENSE00001653457	25328898	25330445
ENSE00001686760	25321889	25321962
ENSE00003511155	25284573	25284759
ENSE00003524278	25290641	25290791
ENSE00003585230	25272509	25272695
ENSE00003644044	25301520	25301686
ENSE00003669934	25300946	25301093
ENSE00003680748	25317000	25317079
ENSE00003682971	25303322	25303459

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 89.16.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6300 / max 227.0801, expressed in 77 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1494	0.2134	47
1491	0.1257	50
1493	0.1100	33
1495	0.0913	26
201411	0.0483	14
1492	0.0413	16

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	89.16	silver quality
trabecular bone tissue	UBERON:0002483	80.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.14	gold quality
monocyte	CL:0000576	79.65	gold quality
mononuclear cell	CL:0000842	79.38	gold quality
leukocyte	CL:0000738	79.14	gold quality
granulocyte	CL:0000094	78.76	gold quality
bone marrow	UBERON:0002371	73.71	gold quality
blood	UBERON:0000178	72.36	gold quality
minor salivary gland	UBERON:0001830	71.88	gold quality
lower esophagus mucosa	UBERON:0035834	71.09	gold quality
right uterine tube	UBERON:0001302	69.95	gold quality
bone marrow cell	CL:0002092	68.86	gold quality
stromal cell of endometrium	CL:0002255	68.71	gold quality
right ovary	UBERON:0002118	68.71	gold quality
endocervix	UBERON:0000458	68.13	gold quality
left ovary	UBERON:0002119	67.75	gold quality
mouth mucosa	UBERON:0003729	67.75	gold quality
spleen	UBERON:0002106	67.69	gold quality
right coronary artery	UBERON:0001625	67.20	gold quality
saliva-secreting gland	UBERON:0001044	66.98	gold quality
ectocervix	UBERON:0012249	66.08	gold quality
right lobe of liver	UBERON:0001114	65.63	gold quality
right lung	UBERON:0002167	65.58	gold quality
right atrium auricular region	UBERON:0006631	65.55	gold quality
body of uterus	UBERON:0009853	65.10	gold quality
cerebellar cortex	UBERON:0002129	64.93	gold quality
cerebellar hemisphere	UBERON:0002245	64.92	gold quality
popliteal artery	UBERON:0002250	64.46	gold quality
tibial artery	UBERON:0007610	64.46	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-10042	yes	43.52
E-MTAB-9388	yes	8.53
E-ANND-3	yes	5.23
E-HCAD-10	yes	3.23
E-MTAB-9067	no	3.07
E-MTAB-9801	no	3.02

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CEBPB, EGR1, ESR2, GATA5, JUN, MEF2A, MEF2B, NFATC3, NFKB, NR2F1, NR5A1, OTX2, PBX1, RUNX1

miRNA regulators (miRDB)

82 targeting RHD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4465	99.71	72.56	2096

Literature-anchored findings (GeneRIF, showing 40)

• Molecular basis of D antigenic epitopes (PMID:10590042)
• Epitope mapping of four monoclonal antibodies specific for the human RhD antigen (PMID:11716963)
• RHCE represents the ancestral RH position, while RHD is the duplicated gene (PMID:11902138)
• characterization of 5 new RHD alleles, dubbed DAU-0 to DAU-4, that share a T379M substitution and occurr in a cDe haplotype. (PMID:12070041)
• Molecular analysis of Hor+, Mol+ variants revealed a hybrid gene structure RHCe-D(5)-Ce, in which exon 5 of RHCE (RHCe allele) was replaced by exon 5 of RHD (the so-called RHCeVA allele resulting in several AA alterations in the external loop 4 CeVA. (PMID:12084172)
• Cell-surface expression of RhD blood group polypeptide is posttranscriptionally regulated by the RhAG glycoprotein. (PMID:12130520)
• RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility (PMID:12439825)
• evaluation of posttransplant sensitization in blood this group-negative renal transplantation recipients (PMID:12493401)
• strong selection might be working to maintain the RHCE/RHD antigen variation in the two-locus system (PMID:12857961)
• Fetal RHD was detected in all 23 mothers with RhD pos child. (PMID:15112469)
• CD5+ CLL cells are the most effective cell type in processing and presenting purified Rh protein to autoreactive T helper cells. (PMID:15284121)
• Five new RHD alleles were characterized carrying 399G > T, 680T > C, 833G > A, 851C > T, and 1015G > A, respectively. (PMID:15318849)
• Review. The genetic, structural, and immunologic features of RHD are reviewed. (PMID:15373666)
• 6 new alleles are described: A1226T, T667G,G697C,T1136C,G998A,and C674T. (PMID:16181204)
• 2 new weak D types (31 & 32)were found, C17T & A1121T, coding for amino acid exchanges in predicted intracellular RhD polypeptide stretches, with antigen densities of approximately 130 & 50 D sites per red blood cell, respectively. (PMID:16181207)
• The transcripts with exon 9, exons 8 and 9, exons 7 and 9, and exons 7-9 spliced out compared normal RhD mRNA. (PMID:16510313)
• By describing the RHD(F223V) (602C>G) and RHD(T201R, F223V) (602C>G and 667T>G) alleles formal proof is given for the origin of the non-Eurasian cluster. (PMID:16584437)
• A novel pattern of RhD exon amplification was detected, characterized, and named (DVI type 4). This novel structure is the most frequent cause of DVI in Spain. (PMID:16584438)
• Review. 3-D models of the subunit and oligomeric architecture are proposed, using hydrophobic cluster analysis. (PMID:16584906)
• RHD 1227A allele is an important genetic marker of Rh DEL phenotype; RHD 1227A is recessive to normal RHD allele and dominant to RHd allele; RHD 1227A allele is an ancestral, but not a spontaneously mutated allele. (PMID:17029203)
• the mRNA splicing mechanism of RHD gene was very complex, and nine novel alternative splicing isoforms were identified (PMID:17035176)
• In this [Portuguese] population, 1.3% of the serologic RhD-negative women have an RHD-positive allele. (PMID:17497744)
• DCS-1, DCS-2, and DFV carry amino acid substitutions at the extracellular vestibule, visualized by 3-dimensional modeling. (PMID:17900276)
• The investigators analyzed the admixture genetic components of the Rh blood group in two socioeconomic groups in Venezuela. (PMID:18027815)
• RHD genes in population of Fujian Province are polymorphic. (PMID:18426681)
• Anti-Rh(D) may have application for islet cell proliferation in diabetes mellitus treatment for Rh(D)-positive subjects. (PMID:18544617)
• relatively high perioperative transfusion needs of D- orthotopic liver transplantation recipients can be safely met with D+ components with very low risk of inducing anti-D with the newer, mycophenolate mofetil-centered immune suppression regimen (PMID:19055536)
• 74 blood donor samples carrying weak D and DEL phenotypes with the potential of causing secondary immunizations in recipients were reclassified as D+. (PMID:19170995)
• variant sequences in Intron 7 of Rh blood group D antigen nucleotides AG-GT at both sides of the segment may be related to this molecular even as AG-GT may cut intron 7 with its normal splicing site (GT-AG) into two “new introns” (PMID:19364677)
• The proximal RHD/RHCE promoter regions contain cis-regulatory binding motifs and an internal sequence-dependent region that together regulate transcription suggesting that this region may be relevant in the weak expression of RhD (PMID:19374729)
• More precise determination of D antigen helps to reveal the Rhesus factor (PMID:19388479)
• Molecular bases of unexpressed RHD alleles in Chinese D- persons. (PMID:19392776)
• combined haplotype of 1227G>A and IVS7 923C>T alleles was apparent in >95% DEL Chinese individuals. RHD1227A mutation significantly increased aberrant mRNA splicing, producing a hybrid RHD mRNA lacking exon (PMID:20188798)
• four RhD protein varients possessed amino acid substititions at postions 114 and 122 (PMID:20233350)
• These results indicate that RhD phenotype might influence not only the effect of toxoplasmosis but also the effect of aging on specific personality traits. (PMID:20608477)
• 4 novel RHD alleles were identified: RHD(S256P), RHD(L390L), RHD(F410V), and RHD(IVS4-2a>g). (PMID:20723165)
• This QF-PCR method accurately determines RHD zygosity and will help predict the risk that a fetus will inherit RHD. (PMID:21072752)
• next-generation sequencing offers a new development for high-throughput and clonal sequencing for molecular RHD genotyping. (PMID:21133932)
• Distribution of weak D types in the Croatian population. (PMID:21269342)
• The use of cell-free fetal DNA in prenatal noninvasive early detection of fetal RhD status and gender by real-time PCR is highly sensitive and accurate as early as the 11th week of gestation for RhD status and the 7th week of gestation for fetal sex. (PMID:21488716)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	rhd	ENSDARG00000002194
mus_musculus	Rhd	ENSMUSG00000028825
rattus_norvegicus	Rhd	ENSRNOG00000017130
drosophila_melanogaster	Rh50	FBGN0028699
caenorhabditis_elegans		WBGENE00004358
caenorhabditis_elegans		WBGENE00004359

Paralogs (4): RHAG (ENSG00000112077), RHBG (ENSG00000132677), RHCG (ENSG00000140519), RHCE (ENSG00000188672)

Protein

Protein identifiers

Blood group Rh(D) polypeptide — Q02161 (reviewed: Q02161)

Alternative names: RHXIII, Rh polypeptide 2, Rhesus D antigen

All UniProt accessions (6): A0A1B1R0Y1, A0A3B3IU43, E7EVW1, Q02161, H3BT10, Q5XLT3

UniProt curated annotations — full annotation on UniProt →

Function. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.

Subcellular location. Cell membrane.

Tissue specificity. Restricted to tissues or cell lines expressing erythroid characters.

Post-translational modifications. Palmitoylated.

Disease relevance. Hemolytic disease of fetus and newborn, RH-induced (HDFNRH) [MIM:619462] A disease that occurs in pregnancies in which mothers who lack the D antigen (RhD) of the Rh blood group have been exposed to the RhD-positive red cells of the fetus. The resulting maternal autoantibodies cross the placenta and destroy fetal red cells. The disease is caused by variants affecting the gene represented in this entry.

Polymorphism. RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a variant in position 110. Homozygous deletion of the RHD gene results in Rh-negative (dd) individuals. Some polymorhisms lead to weak RHD expression. This phenotype called weak D, formerly known as D(u), is observed in about 0.2% to 1% of Caucasians. Moderately decreased RHD expression results in a phenotype called DHMi.

Similarity. Belongs to the ammonium transporter (TC 2.A.49) family. Rh subfamily.

Isoforms (6)

UniProt ID	Names	Canonical?
Q02161-1	1, Long	yes
Q02161-2	2, Short 1
Q02161-3	3, Short 2
Q02161-4	4
Q02161-5	5
Q02161-6	6

RefSeq proteins (8): NP_001121163, NP_001269796, NP_001269797, NP_001269798, NP_001269799, NP_001269800, NP_001269801, NP_057208* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002229	RhesusRHD	Family
IPR024041	NH4_transpt_AmtB-like_dom	Domain
IPR029020	Ammonium/urea_transptr	Homologous_superfamily

Pfam: PF00909

UniProt features (58 total): sequence variant 30, transmembrane region 11, sequence conflict 8, splice variant 7, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q02161-F1	84.91	0.47

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9037628	Rhesus blood group biosynthesis

MSigDB gene sets: 192 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE45365_NK_CELL_VS_CD8A_DC_DN, E2F_Q4, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOLDRATH_ANTIGEN_RESPONSE, GNF2_ANK1, E2F_Q3, GATA3_01, MORI_SMALL_PRE_BII_LYMPHOCYTE_DN, GNF2_SPTA1, GNF2_PCAF, GOBP_TRANSMEMBRANE_TRANSPORT, GATA_Q6, GNF2_MAP2K3, REACTOME_METABOLISM_OF_CARBOHYDRATES_AND_CARBOHYDRATE_DERIVATIVES

GO Biological Process (2): ammonium transmembrane transport (GO:0072488), ammonium homeostasis (GO:0097272)

GO Molecular Function (2): ammonium channel activity (GO:0008519), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Blood group systems biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transmembrane transport	1
nitrogen compound transport	1
inorganic ion homeostasis	1
channel activity	1
ammonium transmembrane transport	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

1 interactions, top by confidence:

BioGRID (9): RHD (Two-hybrid), RHD (Two-hybrid), RHD (Two-hybrid), RHD (Two-hybrid), RHD (Two-hybrid), RHD (Two-hybrid), RHD (Two-hybrid), RHD (Affinity Capture-MS), RHD (Affinity Capture-Western)

ESM2 similar proteins: O88298, P18577, P58873, Q02094, Q02161, Q0IIV2, Q18PF6, Q19KI0, Q20CR3, Q28426, Q28427, Q28446, Q28481, Q28812, Q28813, Q28814, Q28849, Q2T9S6, Q3BBX8, Q3BCQ4, Q3BCQ5, Q3BCQ7, Q4VUI0, Q4VUZ1, Q5NVA3, Q5U4V1, Q68FT6, Q69D47, Q6DCG4, Q6WRY0, Q7T070, Q7TNK7, Q7TNN9, Q8BUX5, Q8CBB2, Q8CF94, Q8JI14, Q8WMW0, Q8WMW2, Q8WNQ5

Diamond homologs: O88298, P18577, Q02094, Q02161, Q0IIV2, Q18PF5, Q18PF6, Q19KH7, Q19KI0, Q20CR3, Q28426, Q28427, Q28446, Q28481, Q28812, Q28813, Q28814, Q28849, Q2T9S6, Q3BBX7, Q3BBX8, Q3BCQ4, Q3BCQ5, Q3BCQ7, Q4VUI0, Q4VUZ1, Q5NVA3, Q5U4V1, Q68FT6, Q69D47, Q69D48, Q6DCG4, Q6WRY0, Q6XL41, Q7T070, Q7T3R4, Q7TNK7, Q7TNN9, Q8BUX5, Q8CF94

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

61 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	10
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1928 predictions. Top by Δscore:

Variant	Effect	Δscore
1:25300944:A:AG	acceptor_gain	1.0000
1:25300945:G:GG	acceptor_gain	1.0000
1:25300945:GACA:G	acceptor_gain	1.0000
1:25301089:GCTGG:G	donor_gain	1.0000
1:25301093:GGT:G	donor_loss	1.0000
1:25301094:GTAAG:G	donor_loss	1.0000
1:25301514:CCCCA:C	acceptor_loss	1.0000
1:25301516:CCA:C	acceptor_loss	1.0000
1:25301517:CAGG:C	acceptor_loss	1.0000
1:25301518:A:AG	acceptor_gain	1.0000
1:25301518:A:T	acceptor_loss	1.0000
1:25301519:G:GC	acceptor_loss	1.0000
1:25301519:G:GG	acceptor_gain	1.0000
1:25301519:GGC:G	acceptor_gain	1.0000
1:25301683:CAAGG:C	donor_loss	1.0000
1:25301685:AGGT:A	donor_loss	1.0000
1:25301687:GTGA:G	donor_loss	1.0000
1:25301688:T:A	donor_loss	1.0000
1:25303317:TGCAG:T	acceptor_loss	1.0000
1:25303318:GCAG:G	acceptor_loss	1.0000
1:25303319:CAG:C	acceptor_loss	1.0000
1:25303320:A:G	acceptor_loss	1.0000
1:25303321:G:GC	acceptor_loss	1.0000
1:25303321:GACTT:G	acceptor_gain	1.0000
1:25284543:C:A	acceptor_gain	0.9900
1:25284552:C:CA	acceptor_gain	0.9900
1:25284572:G:GA	acceptor_gain	0.9900
1:25284736:G:T	donor_gain	0.9900
1:25290639:A:AG	acceptor_gain	0.9900
1:25290640:G:GG	acceptor_gain	0.9900

AlphaMissense

2711 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:25301627:A:C	S248R	0.953
1:25301629:C:A	S248R	0.953
1:25301629:C:G	S248R	0.953
1:25300994:T:C	F179L	0.930
1:25300996:T:A	F179L	0.930
1:25300996:T:G	F179L	0.930
1:25300982:T:C	F175L	0.920
1:25300984:C:A	F175L	0.920
1:25300984:C:G	F175L	0.920
1:25284647:A:C	S75R	0.902
1:25284649:C:A	S75R	0.902
1:25284649:C:G	S75R	0.902
1:25284692:T:A	W90R	0.897
1:25284692:T:C	W90R	0.897
1:25284659:T:C	F79L	0.894
1:25284661:C:A	F79L	0.894
1:25284661:C:G	F79L	0.894
1:25301534:T:A	W217R	0.890
1:25301534:T:C	W217R	0.890
1:25328919:T:C	F417L	0.885
1:25328921:T:A	F417L	0.885
1:25328921:T:G	F417L	0.885
1:25284614:T:C	F64L	0.878
1:25284616:C:A	F64L	0.878
1:25284616:C:G	F64L	0.878
1:25328898:T:C	F410L	0.875
1:25328900:T:A	F410L	0.875
1:25328900:T:G	F410L	0.875
1:25321954:T:C	F407L	0.874
1:25321956:C:A	F407L	0.874

dbSNP variants (sampled 300 via entrez): RS1000107327 (1:25294833 G>C), RS1000138074 (1:25320263 A>G), RS1000178233 (1:25300020 G>A), RS1000854848 (1:25273836 G>C), RS1000885917 (1:25272839 C>T), RS1001712617 (1:25291321 T>A,C), RS1001807263 (1:25314201 G>A), RS1001890617 (1:25307988 T>C), RS1002152448 (1:25309365 C>T), RS1002186066 (1:25290213 G>C), RS1002223763 (1:25273176 C>T), RS1002456051 (1:25286257 G>C), RS1003105544 (1:25324505 G>A), RS1003561665 (1:25302844 CA>C,CAA), RS1003725543 (1:25281735 G>A)

Disease associations

OMIM: gene MIM:111680 | disease phenotypes: MIM:619462

GenCC curated gene-disease

Disease	Classification	Inheritance
Rh deficiency syndrome	Supportive	Autosomal recessive

Mondo (2): hemolytic disease of fetus and newborn, RH-induced (MONDO:0859172), Rh deficiency syndrome (MONDO:0019107)

Orphanet (0):

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000952	Jaundice
HP:0001343	Kernicterus
HP:0001433	Hepatosplenomegaly
HP:0001511	Intrauterine growth retardation
HP:0001561	Polyhydramnios
HP:0001562	Oligohydramnios
HP:0001649	Tachycardia
HP:0001744	Splenomegaly
HP:0001789	Hydrops fetalis
HP:0001791	Fetal ascites
HP:0001878	Hemolytic anemia
HP:0001923	Reticulocytosis
HP:0001972	Macrocytic anemia
HP:0002240	Hepatomegaly
HP:0002789	Tachypnea
HP:0002904	Hyperbilirubinemia
HP:0004444	Spherocytosis
HP:0004446	Stomatocytosis
HP:0005268	Miscarriage
HP:0005502	Increased red cell osmotic fragility
HP:0011273	Anisocytosis
HP:0012418	Hypoxemia
HP:0020181	Reduced haptoglobin level
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0025671	Fetal pericardial effusion
HP:0025676	Fetal pleural effusion
HP:0032231	Hypochromia
HP:0032366	Positive direct antiglobulin test

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST90002391_54	Mean corpuscular hemoglobin concentration	5.000000e-45
GCST90002392_155	Mean corpuscular volume	6.000000e-68
GCST90002396_117	Mean reticulocyte volume	5.000000e-107
GCST90002397_616	Mean spheric corpuscular volume	7.000000e-94
GCST90002400_16	Plateletcrit	1.000000e-84
GCST90002401_7	Platelet distribution width	1.000000e-32
GCST90002402_531	Platelet count	6.000000e-27

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit
EFO:0007984	platelet component distribution width
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562717	Rh Deficiency Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712996 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
Amphotericin B	increases expression	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.