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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal erythrocyte morphology (HP:0001877)

..Starting node
..Increased red cell osmotic resistance (HP:0005546)

Term ID:

5546

Name:

Increased red cell osmotic resistance

Synonym:

Definition:

Comments:

Reference:

HP:0005546

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal erythrocyte enzyme level (HP:0030272)

Abnormal hematocrit (HP:0031850)

Abnormal hemoglobin (HP:0011902)

Abnormal mean corpuscular volume (HP:0025065)

Abnormal number of erythroid precursors (HP:0012131)

Abnormal reticulocyte morphology (HP:0004312)

Anemia (HP:0001903)

Anisocytosis (HP:0011273)

Blood group antigen abnormality (HP:0010970)

Dysplastic erythropoesis (HP:0012134)

Increased hemoglobin oxygen affinity (HP:0004825)

Increased red cell osmotic fragility (HP:0005502)

Poikilocytosis (HP:0004447)

Polycythemia (HP:0001901)

Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)

Rouleaux formation (HP:0031898)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005546	HP:0005546	Increased red cell osmotic resistance	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional	580
HP:0005546	HP:0005546	Increased red cell osmotic resistance	0	SLC4A4 CL E G H	8671	11030	OMIM:604278	Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation	.	89

Genes (2) :HBB SLC4A4

Diseases (2) :ORPHA:2133 OMIM:604278

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