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 upper limb bone morphology (HP:0040070)

Grandparent Node:
Osteolysis (HP:0002797)

Parent Node:
Abnormality of the metacarpal bones (HP:0001163)

Parent Node:
Osteolysis involving bones of the upper limbs (HP:0045039)

..Starting node
..Metacarpal osteolysis (HP:0001504)

Term ID:

1504

Name:

Metacarpal osteolysis

Synonym:

Metacarpals osteolysis

Definition:

Comments:

Reference:

HP:0001504

Genes and Diseases:

Child Nodes:

........

Osteolytic defects of the 1st metacarpal (HP:0010030)

Sister Nodes:

Carpal osteolysis (HP:0001495)

Lytic defects of ulnar metaphysis (HP:0004043)

Osteolytic defects of the hand bones (HP:0009699)

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:0001504	HP:0001504	Metacarpal osteolysis	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0001504	HP:0001504	Metacarpal osteolysis	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001504	HP:0001504	Metacarpal osteolysis	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.	64
HP:0001504	HP:0010030	Osteolytic defects of the 1st metacarpal	1	CL E G H

Genes (2) :MAFB MMP2

Diseases (3) :ORPHA:2774 OMIM:166300 OMIM:259600

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