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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Neutropenia (D009503)
..Starting node ..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
Child Nodes:
Sister Nodes:
..Cyclic neutropenia (C536227)
..Febrile Neutropenia (D064147) 1
..Lazy Leukocyte Syndrome (C562721)
..Lichtenstein syndrome (C535894)
..Neutropenia, Lethal Congenital, with Eosinophilia (C564943)
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Neutropenia, severe chronic (C535815)
..Neutropenia, Severe Congenital, Autosomal Dominant 1 (C565969)
..Neutropenia, Severe Congenital, Autosomal Dominant 2 (C567748)
..Neutropenia, Severe Congenital, Autosomal Recessive 3 (C537592)
..Neutropenia, Severe Congenital, Autosomal Recessive 4 (C567260)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Onychotrichodysplasia and neutropenia (C537752)
..Poikiloderma with Neutropenia (C565820)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8022

Name:

Neutropenia, Nonimmune Chronic Idiopathic, Adult

Definition:

Alternative IDs:

OMIM:607847

ParentIDs:

MESH:D009503|MESH:D030342

TreeNumbers:

C15.378.553.546.184.564/C564320 |C16.320/C564320

Synonyms:

NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS |NI-CINA |Nonimmune Chronic Idiopathic Neutropenia of Adults

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C564320
MeSH: C564320
OMIM: 607847;

Genes: GFI1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004808	Acute myeloid leukemia	HP:0040283
3	HP:0001875	Neutropenia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_005263.3(GFI1):c.1208A>G (p.Lys403Arg)	2672	GFI1	Pathogenic	28936382	RCV000009279;	N	MedGen:C1842930,OMIM:607847,ORPHA:2688	1	92941647	92941647	NM_005263.3:c.1208A>G	NP_005254.2:p.Lys403Arg	NC_000001.10:g.92941647T>C	OMIM Allelic Variant:600871.0002	C1842930 607847 Neutropenia, nonimmune chronic idiopathic, of adults