Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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:0007265 | Absent mesencephalon | 2 | CL E G H | | | | | | | | | | |
HP:0002418 | HP:0033249 | Focal substantia nigra T2 hyperintensity | 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 | | |