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:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | | 145 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | | | | 1 | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0010951 | HP:0010951 | Abnormal third ventricle morphology | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0010951 | HP:0032578 | Third ventricle colloid cyst | 1 | CL E G H | | | | | | | | | | |
HP:0010951 | HP:0010661 | Absence of the third cerebral ventricle | 1 | CL E G H | | | | | | | | | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0010951 | HP:0007082 | Dilated third ventricle | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |