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:0002418	HP:0002418	Abnormal midbrain morphology	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27		28
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	200
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31		7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5		342
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15		90
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	22
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	3
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	17
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	48
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	2
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	173
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	45
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	665
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	67
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	99
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32		124
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	1
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	32
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13		4
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20		33
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040282 - Frequent	34
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0002418	HP:0033679	Abnormal red nucleus morphology	1	CL E G H
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8		62
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002418	HP:0034254	Face of the giant panda sign	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040281 - Very frequent	11
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	B9D1 CL E G H	27077	24123	OMIM:617120	Joubert syndrome 27	.	28
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0002418	HP:0034258	Aplasia/Hypoplasia of the midbrain	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25		5
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	HP:0040283 - Occasional	342
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP41 CL E G H	95681	12370	OMIM:614464	Joubert syndrome 15	.	90
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CPLANE1 CL E G H	65250	25801	OMIM:614615	Joubert syndrome 17	.
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	FAM149B1 CL E G H	317662	29162	OMIM:618763	JOUBERT SYNDROME 36; JBTS36
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	IFT74 CL E G H	80173	21424	OMIM:619582	JOUBERT SYNDROME 40; JBTS40		3
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	167
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	201
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	1
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	PIBF1 CL E G H	10464	23352	OMIM:617767	Joubert syndrome 33	.	4
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3		167
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	RPGRIP1L CL E G H	23322	29168	OMIM:611560	Joubert syndrome 7	.	167
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	167
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.	124
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome		52
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.	31
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	31
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM107 CL E G H	84314	28128	OMIM:617562	Meckel syndrome 13	.	4
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	39
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	45
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	45
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM231 CL E G H	79583	37234	OMIM:614970	Joubert syndrome 20	HP:0040280 - Obligate	33
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	33
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	82
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	82
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent	61
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration		51
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	49
HP:0002418	HP:0033249	Focal substantia nigra T2 hyperintensity	2	CL E G H
HP:0002418	HP:0007265	Absent mesencephalon	2	CL E G H
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002418	HP:0011960	Substantia nigra gliosis	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002418	HP:0034259	Hypoplasia of the midbrain	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002418	HP:0011960	Substantia nigra gliosis	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0002418	HP:0012678	Iron accumulation in substantia nigra	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0002418	HP:0011960	Substantia nigra gliosis	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0002418	HP:0011960	Substantia nigra gliosis	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0002418	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002418	HP:0011960	Substantia nigra gliosis	2	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0002418	HP:0011960	Substantia nigra gliosis	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0002418	HP:0034316	Thinning of the substantia nigra pars compacta	2	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0002418	HP:0011960	Substantia nigra gliosis	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0002418	HP:0011960	Substantia nigra gliosis	2	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2	.	138
HP:0002418	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0002418	HP:0011960	Substantia nigra gliosis	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0002418	HP:0011960	Substantia nigra gliosis	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0002418	HP:0012678	Iron accumulation in substantia nigra	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040283 - Occasional	52
HP:0002418	HP:0011960	Substantia nigra gliosis	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0002418	HP:0011960	Substantia nigra gliosis	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0002418	HP:0012678	Iron accumulation in substantia nigra	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002418	HP:0012678	Iron accumulation in substantia nigra	2	WDR45 CL E G H	11152	28912	ORPHA:329284	Beta-propeller protein-associated neurodegeneration	HP:0040282 - Frequent	51