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 skeletal morphology (HP:0011842)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Neoplasm of the skeletal system (HP:0010622)

..Starting node
..Enchondroma (HP:0030038)

Term ID:

30038

Name:

Enchondroma

Synonym:

Definition:

A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.

Comments:

Reference:

HP:0030038

Genes and Diseases:

Child Nodes:

........

Multiple enchondromatosis (HP:0005701)

Sister Nodes:

Chondroblastoma (HP:0030432)

Chondrosarcoma (HP:0006765)

Chordoma (HP:0010762)

Exostoses (HP:0100777)

Giant cell tumor of bone (HP:0011847)

Osteoblastoma (HP:0011846)

Osteochondroma (HP:0030431)

Osteoma (HP:0100246)

Osteosarcoma (HP:0002669)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030038	HP:0030038	Enchondroma	0	ADAR CL E G H	103	51	ORPHA	0	654	225	146920
HP:0030038	HP:0030038	Enchondroma	0	ADAR CL E G H	103	51	ORPHA	0	471	225	146920
HP:0030038	HP:0030038	Enchondroma	0	IFIH1 CL E G H	64135	51	ORPHA	0	718	18873	606951
HP:0030038	HP:0030038	Enchondroma	0	IFIH1 CL E G H	64135	51	ORPHA	0	476	18873	606951
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2A CL E G H	10535	51	ORPHA	0	259	18518	606034
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2A CL E G H	10535	51	ORPHA	0	186	18518	606034
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2B CL E G H	79621	51	ORPHA	0	272	25671	610326
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2B CL E G H	79621	51	ORPHA	0	197	25671	610326
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2C CL E G H	84153	51	ORPHA	0	191	24116	610330
HP:0030038	HP:0030038	Enchondroma	0	RNASEH2C CL E G H	84153	51	ORPHA	0	147	24116	610330
HP:0030038	HP:0030038	Enchondroma	0	SAMHD1 CL E G H	25939	51	ORPHA	0	454	15925	606754
HP:0030038	HP:0030038	Enchondroma	0	SAMHD1 CL E G H	25939	51	ORPHA	0	329	15925	606754
HP:0030038	HP:0030038	Enchondroma	0	TREX1 CL E G H	11277	51	ORPHA	0	289	12269	606609
HP:0030038	HP:0030038	Enchondroma	0	TREX1 CL E G H	11277	51	ORPHA	0	198	12269	606609
HP:0030038	HP:0005701	Multiple enchondromatosis	1	ADAR CL E G H	103	51	ORPHA	0	654	225	146920
HP:0030038	HP:0005701	Multiple enchondromatosis	1	ADAR CL E G H	103	51	ORPHA	0	471	225	146920
HP:0030038	HP:0005701	Multiple enchondromatosis	1	IFIH1 CL E G H	64135	51	ORPHA	0	718	18873	606951
HP:0030038	HP:0005701	Multiple enchondromatosis	1	IFIH1 CL E G H	64135	51	ORPHA	0	476	18873	606951
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2A CL E G H	10535	51	ORPHA	0	259	18518	606034
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2A CL E G H	10535	51	ORPHA	0	186	18518	606034
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2B CL E G H	79621	51	ORPHA	0	272	25671	610326
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2B CL E G H	79621	51	ORPHA	0	197	25671	610326
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2C CL E G H	84153	51	ORPHA	0	191	24116	610330
HP:0030038	HP:0005701	Multiple enchondromatosis	1	RNASEH2C CL E G H	84153	51	ORPHA	0	147	24116	610330
HP:0030038	HP:0005701	Multiple enchondromatosis	1	SAMHD1 CL E G H	25939	51	ORPHA	0	454	15925	606754
HP:0030038	HP:0005701	Multiple enchondromatosis	1	SAMHD1 CL E G H	25939	51	ORPHA	0	329	15925	606754
HP:0030038	HP:0005701	Multiple enchondromatosis	1	TREX1 CL E G H	11277	51	ORPHA	0	289	12269	606609
HP:0030038	HP:0005701	Multiple enchondromatosis	1	TREX1 CL E G H	11277	51	ORPHA	0	198	12269	606609

Genes (15) :ADAR COL2A1 IDH1 IDH2 IFIH1 POLR1C POLR1D PTH1R PTPN11 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TCOF1 TREX1

Diseases (7) :51 85198 163634 296 861 2499 156250

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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