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:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 93 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 5 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | | | | 25 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | | | | 20 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 6 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 148 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | | | | 144 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | | | | 102 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 342 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 106 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | | | | 10 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:618924 | EPISODIC ATAXIA, TYPE 9; EA9 | | | | 427 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
HP:0100700 | HP:0100700 | Abnormal arachnoid mater morphology | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0100700 | HP:0034454 | Arachnoid granulation | 1 | CL E G H | | | | | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 93 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 5 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040284 - Very rare | | | 25 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | | | | 20 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 6 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | GPSM2 CL E G H | 29899 | 29501 | OMIM:604213 | CHUDLEY-MCCULLOUGH SYNDROME; CMCS | | | | 74 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 148 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | KCNC2 CL E G H | 3747 | 6234 | OMIM:619913 | | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NARS1 CL E G H | 4677 | 7643 | OMIM:619091 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | HP:0040283 - Occasional | | | 102 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 342 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 106 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | OMIM:212720 | Martsolf syndrome 1 | | | | 135 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SCN2A CL E G H | 6326 | 10588 | OMIM:618924 | EPISODIC ATAXIA, TYPE 9; EA9 | | | | 427 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | HP:0040283 - Occasional | | | 109 | | |
HP:0100700 | HP:0100702 | Arachnoid cyst | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0100700 | HP:0009745 | Spinal arachnoid cyst | 2 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0100700 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0100700 | HP:0012489 | Suprasellar arachnoid cyst | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0100700 | HP:0012488 | Intraventricular arachnoid cyst | 2 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |