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 bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormality of multiple cell lineages in the bone marrow (HP:0012145)

..Starting node
..Megaloblastic bone marrow (HP:0001980)

Term ID:

1980

Name:

Megaloblastic bone marrow

Synonym:

Definition:

Abnormal increased number of megaloblasts in the bone marrow.

Comments:

Reference:

HP:0001980

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bone marrow hypercellularity (HP:0031020)

Bone marrow hypocellularity (HP:0005528)

Myelofibrosis (HP:0011974)

Pancytopenia (HP:0001876)

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:0001980	HP:0001980	Megaloblastic bone marrow	0	MMADHC CL E G H	27249	25221	ORPHA:79283	Methylmalonic acidemia with homocystinuria, type cblD	HP:0040281 - Very frequent	50
HP:0001980	HP:0001980	Megaloblastic bone marrow	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040281 - Very frequent	88
HP:0001980	HP:0001980	Megaloblastic bone marrow	0	TCN2 CL E G H	6948	11653	ORPHA:859	Transcobalamin deficiency	HP:0040281 - Very frequent	57
HP:0001980	HP:0001980	Megaloblastic bone marrow	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57

Genes (3) :MMADHC MTRR TCN2

Diseases (4) :ORPHA:79283 ORPHA:2169 ORPHA:859 OMIM:275350

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