Human Phenotype Ontology

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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

Grandparent Node:
Lymphopenia (HP:0001888)

Parent Node:
B lymphocytopenia (HP:0010976)

..Starting node
..Absent circulating B cells (HP:0030252)

Term ID:

30252

Name:

Absent circulating B cells

Synonym:

Absence of mature B cells

Definition:

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.

Comments:

Reference:

HP:0030252

Genes and Diseases:

Child Nodes:

........

Absence of memory B cells (HP:0030251)

Sister Nodes:

Severe B lymphocytopenia (HP:0005365)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030252	HP:0030252	Absent circulating B cells	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	109
HP:0030252	HP:0030252	Absent circulating B cells	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93	1
HP:0030252	HP:0030252	Absent circulating B cells	0	IGLL1 CL E G H	3543	5870	OMIM:613500	Agammaglobulinemia 2, autosomal recessive	3
HP:0030252	HP:0030252	Absent circulating B cells	0	SLC39A7 CL E G H	7922	4927	OMIM:619693	AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9
HP:0030252	HP:0030252	Absent circulating B cells	0	SPI1 CL E G H	6688	11241	OMIM:619707	AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10

Genes (5) :BTK FNIP1 IGLL1 SLC39A7 SPI1

Diseases (5) :OMIM:307200 OMIM:619705 OMIM:613500 OMIM:619693 OMIM:619707

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.