Human Phenotype Ontology

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:0001355	HP:0001355	Megalencephaly	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly		19
HP:0001355	HP:0001355	Megalencephaly	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0001355	HP:0001355	Megalencephaly	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	19
HP:0001355	HP:0001355	Megalencephaly	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040283 - Occasional	48
HP:0001355	HP:0001355	Megalencephaly	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0001355	HP:0001355	Megalencephaly	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	11
HP:0001355	HP:0001355	Megalencephaly	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	200
HP:0001355	HP:0001355	Megalencephaly	0	CRADD CL E G H	8738	2340	OMIM:614499	Mental retardation, autosomal recessive 34, with variant lissencephaly	.	6
HP:0001355	HP:0001355	Megalencephaly	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci		172
HP:0001355	HP:0001355	Megalencephaly	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci		172
HP:0001355	HP:0001355	Megalencephaly	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	22
HP:0001355	HP:0001355	Megalencephaly	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	3
HP:0001355	HP:0001355	Megalencephaly	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	17
HP:0001355	HP:0001355	Megalencephaly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0001355	HP:0001355	Megalencephaly	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0001355	HP:0001355	Megalencephaly	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0001355	HP:0001355	Megalencephaly	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	48
HP:0001355	HP:0001355	Megalencephaly	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	2
HP:0001355	HP:0001355	Megalencephaly	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	173
HP:0001355	HP:0001355	Megalencephaly	0	HEPACAM CL E G H	220296	26361	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	82
HP:0001355	HP:0001355	Megalencephaly	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0001355	HP:0001355	Megalencephaly	0	HEPACAM CL E G H	220296	26361	OMIM:613926	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation	.	82
HP:0001355	HP:0001355	Megalencephaly	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0001355	HP:0001355	Megalencephaly	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent	16
HP:0001355	HP:0001355	Megalencephaly	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0001355	HP:0001355	Megalencephaly	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0001355	HP:0001355	Megalencephaly	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0001355	HP:0001355	Megalencephaly	0	MLC1 CL E G H	23209	17082	OMIM:604004	Megalencephalic leukoencephalopathy with subcortical cysts 1	.	112
HP:0001355	HP:0001355	Megalencephaly	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0001355	HP:0001355	Megalencephaly	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly		68
HP:0001355	HP:0001355	Megalencephaly	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040281 - Very frequent	68
HP:0001355	HP:0001355	Megalencephaly	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0001355	HP:0001355	Megalencephaly	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	45
HP:0001355	HP:0001355	Megalencephaly	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci		4
HP:0001355	HP:0001355	Megalencephaly	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci		7
HP:0001355	HP:0001355	Megalencephaly	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0001355	HP:0001355	Megalencephaly	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly		162
HP:0001355	HP:0001355	Megalencephaly	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0001355	HP:0001355	Megalencephaly	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.	12
HP:0001355	HP:0001355	Megalencephaly	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent	12
HP:0001355	HP:0001355	Megalencephaly	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	665
HP:0001355	HP:0001355	Megalencephaly	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001355	HP:0001355	Megalencephaly	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0001355	HP:0001355	Megalencephaly	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	67
HP:0001355	HP:0001355	Megalencephaly	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0001355	HP:0001355	Megalencephaly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0001355	HP:0001355	Megalencephaly	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0001355	HP:0001355	Megalencephaly	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	99
HP:0001355	HP:0001355	Megalencephaly	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0001355	HP:0001355	Megalencephaly	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent	6
HP:0001355	HP:0001355	Megalencephaly	0	TBC1D7 CL E G H	51256	21066	OMIM:248000	Macrocephaly/megalencephaly syndrome, autosomal recessive	.	4
HP:0001355	HP:0001355	Megalencephaly	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	1
HP:0001355	HP:0001355	Megalencephaly	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	32
HP:0001355	HP:0001355	Megalencephaly	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0001355	HP:0001355	Megalencephaly	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0001355	HP:0001355	Megalencephaly	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0001355	HP:0001355	Megalencephaly	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0001355	HP:0001355	Megalencephaly	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional	34
HP:0001355	HP:0034329	Dysplastic megalencephaly	1	CL E G H
HP:0001355	HP:0034220	Temporal lobe megalencephaly	1	CL E G H
HP:0001355	HP:0007206	Hemimegalencephaly	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0001355	HP:0007206	Hemimegalencephaly	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2		19
HP:0001355	HP:0007206	Hemimegalencephaly	1	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci		172
HP:0001355	HP:0007206	Hemimegalencephaly	1	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	172
HP:0001355	HP:0007206	Hemimegalencephaly	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0001355	HP:0007206	Hemimegalencephaly	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0001355	HP:0007206	Hemimegalencephaly	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0001355	HP:0007206	Hemimegalencephaly	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0001355	HP:0007206	Hemimegalencephaly	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0001355	HP:0007206	Hemimegalencephaly	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0001355	HP:0007206	Hemimegalencephaly	1	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	4
HP:0001355	HP:0007206	Hemimegalencephaly	1	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	7
HP:0001355	HP:0007206	Hemimegalencephaly	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0001355	HP:0007206	Hemimegalencephaly	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0001355	HP:0007206	Hemimegalencephaly	1	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001355	HP:0007206	Hemimegalencephaly	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0001355	HP:0007206	Hemimegalencephaly	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0001355	HP:0007206	Hemimegalencephaly	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0001355	HP:0007206	Hemimegalencephaly	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0001355	HP:0007206	Hemimegalencephaly	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738