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:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040282 - Frequent	135
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0012501	HP:0012501	Abnormal brainstem white matter morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0012501	HP:0011931	Abnormal cerebellar peduncle morphology	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0012501	HP:0011932	Abnormal superior cerebellar peduncle morphology	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0012501	HP:0030286	Atrophic superior cerebellar peduncle	3	CL E G H
HP:0012501	HP:0030285	Splayed superior cerebellar peduncle	3	CL E G H
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0012501	HP:0002404	Thickened superior cerebellar peduncle	3	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0012501	HP:0002404	Thickened superior cerebellar peduncle	3	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0012501	HP:0002404	Thickened superior cerebellar peduncle	3	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0012501	HP:0002404	Thickened superior cerebellar peduncle	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0012501	HP:0011933	Elongated superior cerebellar peduncle	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166