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:
Abnormal erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal hematocrit (HP:0031850)

..Starting node
..Reduced hematocrit (HP:0031851)

Term ID:

31851

Name:

Reduced hematocrit

Synonym:

Low hematocrit; Reduced Hct

Definition:

A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.

Comments:

Reference:

HP:0031851

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased hematocrit (HP:0001899)

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:0031851	HP:0031851	Reduced hematocrit	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0031851	HP:0031851	Reduced hematocrit	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	42

Genes (2) :HSCB KLF1

Diseases (2) :OMIM:619523 OMIM:613673

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