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 cerebral morphology (HP:0002060)

Parent Node:
Megalencephaly (HP:0001355)

..Starting node
..Hemimegalencephaly (HP:0007206)

Term ID:

7206

Name:

Hemimegalencephaly

Synonym:

Definition:

Enlargement of all or parts of one cerebral hemisphere.

Comments:

Reference:

HP:0007206

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007206	HP:0007206	Hemimegalencephaly	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0007206	HP:0007206	Hemimegalencephaly	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0007206	HP:0007206	Hemimegalencephaly	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci		172
HP:0007206	HP:0007206	Hemimegalencephaly	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	172
HP:0007206	HP:0007206	Hemimegalencephaly	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0007206	HP:0007206	Hemimegalencephaly	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0007206	HP:0007206	Hemimegalencephaly	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0007206	HP:0007206	Hemimegalencephaly	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0007206	HP:0007206	Hemimegalencephaly	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0007206	HP:0007206	Hemimegalencephaly	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0007206	HP:0007206	Hemimegalencephaly	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	4
HP:0007206	HP:0007206	Hemimegalencephaly	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	7
HP:0007206	HP:0007206	Hemimegalencephaly	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0007206	HP:0007206	Hemimegalencephaly	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0007206	HP:0007206	Hemimegalencephaly	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0007206	HP:0007206	Hemimegalencephaly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0007206	HP:0007206	Hemimegalencephaly	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0007206	HP:0007206	Hemimegalencephaly	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0007206	HP:0007206	Hemimegalencephaly	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0007206	HP:0007206	Hemimegalencephaly	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (14) :AKT3 DEPDC5 HRAS IFNG KRAS MTOR NPRL2 NPRL3 NRAS PIK3CA PTEN SMO TSC1 TSC2

Diseases (11) :ORPHA:99802 OMIM:615937 OMIM:604364 ORPHA:98820 OMIM:163200 OMIM:613254 OMIM:607341 OMIM:616638 OMIM:158350 OMIM:601707 OMIM:191100

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

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