Neutropenia, Severe Congenital, 7, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Name: Neutropenia, Severe Congenital, 7, Autosomal Recessive ⁵⁷ ⁵ ³⁸

Scn7 ⁵⁷ ⁷³

Neutropenia, Severe Congenital 7, Autosomal Recessive ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy or early childhood
some patients may show a response to gm-csf treatment

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Infectious diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Respiratory diseases Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617014

OMIM Phenotypic Series ⁵⁷ PS202700

MeSH ⁴³ D009503

MedGen ⁴⁰ C4310764 CN237114

SNOMED-CT via HPO ⁶⁹ 165517008

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Summaries for Neutropenia, Severe Congenital, 7, Autosomal Recessive

OMIM®: ⁵⁷ Severe congenital neutropenia-7 is an autosomal recessive immunodeficiency characterized by onset of recurrent infections in infancy or early childhood. Patients have peripheral neutropenia, although bone marrow biopsy shows normal granulocyte maturation. The neutropenia is not responsive to treatment with G-CSF, but may be responsive to GM-CSF (summary by Triot et al., 2014 and Klimiankou et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700). (617014) (Updated 08-Dec-2022)

MalaCards based summary: Neutropenia, Severe Congenital, 7, Autosomal Recessive, also known as scn7, is related to severe congenital neutropenia 7. An important gene associated with Neutropenia, Severe Congenital, 7, Autosomal Recessive is CSF3R (Colony Stimulating Factor 3 Receptor). Affiliated tissues include bone marrow, neutrophil and bone, and related phenotypes are neutropenia and recurrent infections

UniProtKB/Swiss-Prot: ⁷³ A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

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Related Diseases for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial	Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia, Severe Congenital, 9, Autosomal Dominant
Severe Congenital Neutropenia	Severe Congenital Neutropenia 1
Severe Congenital Neutropenia 7	Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 2	Severe Congenital Neutropenia 5
Severe Congenital Neutropenia 3	Severe Congenital Neutropenia 6
Severe Congenital Neutropenia 8	Severe Congenital Neutropenia 4
Elane-Related Neutropenia	Acquired Neutropenia
Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Neutropenia, Severe Congenital, 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe congenital neutropenia 7	11.0

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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	neutropenia ³⁰			HP:0001875
2	recurrent infections ³⁰			HP:0002719

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Immunology:
neutropenia
recurrent infections
bone marrow shows normal myeloid maturation
poor response to g-csf

Clinical features from OMIM®:

617014 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Search Clinical Trials, NIH Clinical Center for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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Genetic Tests for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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Anatomical Context for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

MalaCards : Bone Marrow, Neutrophil, Bone, Myeloid

ODiseA: Blood And Bone Marrow

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Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

(show all 19)

#	Title	Authors	PMID	Year
1	GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations. ⁵⁷ ⁵	Klimiankou M...Welte K	26324699	2015
2	Inherited biallelic CSF3R mutations in severe congenital neutropenia. ⁵⁷ ⁵	Triot A...Klein C	24753537	2014
3	Inherited transmission of the CSF3R T618I mutational hotspot in familial chronic neutrophilic leukemia. ⁵	Duployez N...Preudhomme C	31697825	2019
4	Phospho serine and threonine analysis of normal and mutated granulocyte colony stimulating factor receptors. ⁵	Dwivedi P...Greis KD	30967555	2019
5	Targeted next-generation sequencing identifies clinically relevant mutations in patients with chronic neutrophilic leukemia at diagnosis and blast crisis. ⁵	Langabeer SE...Conneally E	28762112	2018
6	Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia. ⁵	Ouyang Y...Zhang SJ	28209919	2017
7	[The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia]. ⁵	Cui YJ...Xiao ZJ	28219221	2017
8	Chronic neutrophilic leukemia in a child with a CSF3R T618I germ line mutation. ⁵	Druhan LJ...Avalos BR	27581359	2016
9	A CSF3R T618I Mutation in a Patient with Chronic Neutrophilic Leukemia and Severe Bleeding Complications. ⁵	Mitsumori T...Kirito K	26875968	2016
10	Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier case. ⁵	Knoechel B...Aster JC	27148573	2015
11	[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia]. ⁵	Senin A...Alvarez-Larran A	24854193	2015
12	Atypical chronic myeloid leukemia with concomitant CSF3R T618I and SETBP1 mutations unresponsive to the JAK inhibitor ruxolitinib. ⁵	Ammatuna E...Touw IP	25491280	2015
13	T618I-Mutated Colony Stimulating Factor 3 Receptor in Chronic Neutrophilic Leukemia and Chronic Myelomonocytic Leukemia Patients who Underwent Allogeneic Stem Cell Transplantation. ⁵	Lee SE...Kim M	25932451	2015
14	The CSF3R T618I mutation as a disease-specific marker of atypical CML post allo-SCT. ⁵	Langabeer SE...Conneally E	24614839	2014
15	Ligand independence of the T618I mutation in the colony-stimulating factor 3 receptor (CSF3R) protein results from loss of O-linked glycosylation and increased receptor dimerization. ⁵	Maxson JE...Tyner JW	24403076	2014
16	The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. ⁵	Fleischman AG...Tyner JW	24081659	2013
17	CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. ⁵	Pardanani A...Tefferi A	23604229	2013
18	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
19	Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review. ⁶²	Zhou J...Wang H	34778134	2021

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Genes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1232.98	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	16199547 24753537 26324699 (more) 23604229 24081659 24403076 24614839 24854193 25491280 25932451 26875968 27148573 27581359 28209919 28219221 28762112 30967555 31697825

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Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

⁵ (show top 50) (show all 323)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CSF3R	NM_000760.4(CSF3R):c.948_963del (p.His317fs)	DEL	Pathogenic	242629	rs606231475	GRCh37: 1:36937873-36937888 GRCh38: 1:36472272-36472287
2	CSF3R	NM_000760.4(CSF3R):c.1245del (p.Thr416fs)	DEL	Pathogenic	242630	rs606231474	GRCh37: 1:36937074-36937074 GRCh38: 1:36471473-36471473
3	CSF3R	NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	SNV	Pathogenic	161982	rs606231473	GRCh37: 1:36937914-36937914 GRCh38: 1:36472313-36472313
4	CSF3R	NM_000760.4(CSF3R):c.843+2T>C	SNV	Pathogenic	1033125	rs1650834071	GRCh37: 1:36938116-36938116 GRCh38: 1:36472515-36472515
5	CSF3R	NM_000760.4(CSF3R):c.189G>A (p.Trp63Ter)	SNV	Pathogenic	1322165		GRCh37: 1:36941150-36941150 GRCh38: 1:36475549-36475549
6	CSF3R	NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer)	INDEL	Pathogenic	1372222		GRCh37: 1:36939059-36939067 GRCh38: 1:36473458-36473466
7	CSF3R	NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter)	SNV	Pathogenic	1416044		GRCh37: 1:36941261-36941261 GRCh38: 1:36475660-36475660
8	CSF3R	NM_000760.4(CSF3R):c.218dup (p.Arg74fs)	DUP	Pathogenic	1410136		GRCh37: 1:36941120-36941121 GRCh38: 1:36475519-36475520
9	CSF3R	NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)	SNV	Pathogenic	1431609		GRCh37: 1:36934808-36934808 GRCh38: 1:36469207-36469207
10	CSF3R	NM_000760.4(CSF3R):c.1072-1G>C	SNV	Pathogenic	1453348		GRCh37: 1:36937248-36937248 GRCh38: 1:36471647-36471647
11	CSF3R	NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)	DEL	Pathogenic	649220	rs1570588220	GRCh37: 1:36937873-36937901 GRCh38: 1:36472272-36472300
12	CSF3R	NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	SNV	Pathogenic	812885	rs756667927	GRCh37: 1:36940999-36940999 GRCh38: 1:36475398-36475398
13	CSF3R	NM_000760.4(CSF3R):c.1404del (p.Ser469fs)	DEL	Pathogenic	971335	rs747437399	GRCh37: 1:36935323-36935323 GRCh38: 1:36469722-36469722
14	CSF3R	NM_000760.4(CSF3R):c.1216dup (p.Val406fs)	DUP	Pathogenic	542855	rs890101650	GRCh37: 1:36937102-36937103 GRCh38: 1:36471501-36471502
15	CSF3R	NM_000760.4(CSF3R):c.799del (p.Glu267fs)	DEL	Pathogenic	542856	rs759302795	GRCh37: 1:36938162-36938162 GRCh38: 1:36472561-36472561
16	CSF3R	NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)	DEL	Pathogenic	655386	rs757401069	GRCh37: 1:36941118-36941136 GRCh38: 1:36475517-36475535
17	CSF3R	NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter)	SNV	Pathogenic	1070139		GRCh37: 1:36945066-36945066 GRCh38: 1:36479465-36479465
18	CSF3R	NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter)	SNV	Pathogenic	1073345		GRCh37: 1:36935339-36935339 GRCh38: 1:36469738-36469738
19	CSF3R	NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	SNV	Pathogenic	570920	rs138156467	GRCh37: 1:36933759-36933759 GRCh38: 1:36468158-36468158
20	CSF3R	NM_000760.4(CSF3R):c.998-1G>A	SNV	Likely Pathogenic	1509271		GRCh37: 1:36937741-36937741 GRCh38: 1:36472140-36472140
21	CSF3R	NM_000760.4(CSF3R):c.998-2A>T	SNV	Likely Pathogenic	242835	rs879253750	GRCh37: 1:36937742-36937742 GRCh38: 1:36472141-36472141
22	CSF3R	NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)	SNV	Likely Pathogenic	208339	rs796065343	GRCh37: 1:36933434-36933434 GRCh38: 1:36467833-36467833
23	CSF3R	NM_000760.4(CSF3R):c.106G>A (p.Val36Ile)	SNV	Uncertain Significance	952539	rs369635490	GRCh37: 1:36941233-36941233 GRCh38: 1:36475632-36475632
24	CSF3R	NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val)	SNV	Uncertain Significance	962850	rs1183274433	GRCh37: 1:36932088-36932088 GRCh38: 1:36466487-36466487
25	CSF3R	NM_000760.4(CSF3R):c.973C>G (p.Leu325Val)	SNV	Uncertain Significance	966698	rs559114400	GRCh37: 1:36937863-36937863 GRCh38: 1:36472262-36472262
26	CSF3R	NM_000760.4(CSF3R):c.664A>G (p.Met222Val)	SNV	Uncertain Significance	1000996	rs1650909656	GRCh37: 1:36939045-36939045 GRCh38: 1:36473444-36473444
27	CSF3R	NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg)	SNV	Uncertain Significance	1015863	rs200059719	GRCh37: 1:36945037-36945037 GRCh38: 1:36479436-36479436
28	CSF3R	NM_000760.4(CSF3R):c.923G>A (p.Arg308His)	SNV	Uncertain Significance	1018997	rs148747030	GRCh37: 1:36937913-36937913 GRCh38: 1:36472312-36472312
29	CSF3R	NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser)	SNV	Uncertain Significance	1034533	rs201991840	GRCh37: 1:36937925-36937925 GRCh38: 1:36472324-36472324
30	CSF3R	NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val)	SNV	Uncertain Significance	1043993	rs766343562	GRCh37: 1:36932302-36932302 GRCh38: 1:36466701-36466701
31	CSF3R	NM_000760.4(CSF3R):c.843+3G>A	SNV	Uncertain Significance	1059715		GRCh37: 1:36938115-36938115 GRCh38: 1:36472514-36472514
32	CSF3R	NM_000760.4(CSF3R):c.1286-3C>T	SNV	Uncertain Significance	542861	rs778391319	GRCh37: 1:36935444-36935444 GRCh38: 1:36469843-36469843
33	CSF3R	NM_000760.4(CSF3R):c.272A>G (p.His91Arg)	SNV	Uncertain Significance	434843	rs148307285	GRCh37: 1:36941067-36941067 GRCh38: 1:36475466-36475466
34	CSF3R	NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp)	SNV	Uncertain Significance	665158	rs370491074	GRCh37: 1:36932339-36932339 GRCh38: 1:36466738-36466738
35	CSF3R	NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln)	SNV	Uncertain Significance	434841	rs369185176	GRCh37: 1:36937710-36937710 GRCh38: 1:36472109-36472109
36	CSF3R	NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu)	SNV	Uncertain Significance	1056474		GRCh37: 1:36935402-36935402 GRCh38: 1:36469801-36469801
37	CSF3R	NM_000760.4(CSF3R):c.1795C>A (p.His599Asn)	SNV	Uncertain Significance	1337437		GRCh37: 1:36933492-36933492 GRCh38: 1:36467891-36467891
38	CSF3R	NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)	SNV	Uncertain Significance	566149	rs142999683	GRCh37: 1:36940984-36940984 GRCh38: 1:36475383-36475383
39	CSF3R	NM_000760.4(CSF3R):c.353G>A (p.Arg118His)	SNV	Uncertain Significance	476297	rs923298829	GRCh37: 1:36940986-36940986 GRCh38: 1:36475385-36475385
40	CSF3R	NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val)	SNV	Uncertain Significance	542858	rs375571657	GRCh37: 1:36933787-36933787 GRCh38: 1:36468186-36468186
41	CSF3R	NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp)	SNV	Uncertain Significance	542859	rs752325760	GRCh37: 1:36937711-36937711 GRCh38: 1:36472110-36472110
42	CSF3R	NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile)	SNV	Uncertain Significance	842556	rs1382959301	GRCh37: 1:36932232-36932232 GRCh38: 1:36466631-36466631
43	CSF3R	NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)	SNV	Uncertain Significance	844038	rs183614500	GRCh37: 1:36932397-36932397 GRCh38: 1:36466796-36466796
44	CSF3R	NM_000760.4(CSF3R):c.1407C>T (p.Ser469=)	SNV	Uncertain Significance	859944	rs1306508815	GRCh37: 1:36935320-36935320 GRCh38: 1:36469719-36469719
45	CSF3R	NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu)	SNV	Uncertain Significance	567052	rs34362628	GRCh37: 1:36941238-36941238 GRCh38: 1:36475637-36475637
46	CSF3R	NM_000760.4(CSF3R):c.686C>A (p.Pro229His)	SNV	Uncertain Significance	570209	rs764202764	GRCh37: 1:36938275-36938275 GRCh38: 1:36472674-36472674
47	CSF3R	NC_000001.10:g.(?_36931677)_(36937267_?)dup	DUP	Uncertain Significance	583443		GRCh37: 1:36931677-36937267 GRCh38: 1:36466076-36471666
48	CSF3R	NM_000760.4(CSF3R):c.1474+3G>A	SNV	Uncertain Significance	1057370		GRCh37: 1:36935250-36935250 GRCh38: 1:36469649-36469649
49	CSF3R	NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs)	DEL	Uncertain Significance	844629	rs1557587773	GRCh37: 1:36933501-36933502 GRCh38: 1:36467900-36467901
50	CSF3R	NM_000760.4(CSF3R):c.648A>C (p.Gln216His)	SNV	Uncertain Significance	1487049		GRCh37: 1:36939061-36939061 GRCh38: 1:36473460-36473460

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CSF3R	p.Arg308Cys	VAR_077011	rs606231473

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Expression for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 7, Autosomal Recessive.

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Pathways for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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GO Terms for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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Sources for Neutropenia, Severe Congenital, 7, Autosomal Recessive

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SCN7 MCID: NTR044 MIFTS: 27	Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7) Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Neutropenia, Severe Congenital, 7, Autosomal Recessive (SCN7)

Aliases & Classifications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

MalaCards integrated aliases for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Related Diseases for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Diseases in the Neutropenia family:

Diseases related to Neutropenia, Severe Congenital, 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Human phenotypes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Genetic Tests for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Anatomical Context for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Organs/tissues related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Publications for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Articles related to Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Genes for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Genes related to Neutropenia, Severe Congenital, 7, Autosomal Recessive (1 elite genes):

Variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 7, Autosomal Recessive:

Expression for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Pathways for Neutropenia, Severe Congenital, 7, Autosomal Recessive

GO Terms for Neutropenia, Severe Congenital, 7, Autosomal Recessive

Sources for Neutropenia, Severe Congenital, 7, Autosomal Recessive