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 metaphysis morphology (HP:0000944)

Parent Node:
Metaphyseal enchondromatosis (HP:0005868)

..Starting node
..Metaphyseal chondromatosis of femur (HP:0030295)

Term ID:

30295

Name:

Metaphyseal chondromatosis of femur

Synonym:

Definition:

Comments:

Reference:

HP:0030295

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metaphyseal chondromatosis of humerus (HP:0030298)

Metaphyseal chondromatosis of radius (HP:0030296)

Metaphyseal chondromatosis of tibia (HP:0030294)

Metaphyseal chondromatosis of ulna (HP:0030297)

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:0030295	HP:0030295	Metaphyseal chondromatosis of femur	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	15

Genes (1) :IDH1

Diseases (1) :ORPHA:99646

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