Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system morphology (HP:0012639)help
Parent Node:
expand
Cephalocele (HP:0011815)help
Parent Node:
expand
Morphological central nervous system abnormality (HP:0002011)help
..Starting node
..expand
Encephalocele (HP:0002084)help
Term ID: 2084
Name: Encephalocele
Synonym: Bifid skull; Cranium bifidum
Definition: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Comments:
Reference: HP:0002084
Genes and Diseases:
 
       Child Nodes:
........expandOccipital encephalocele (HP:0002085) help
........expandCranium bifidum occultum (HP:0004423) help
........expandMeningoencephalocele (HP:0006888) help
........expandAnterior basal encephalocele (HP:0006992) help
........expandAnterior encephalocele (HP:0007035) help
........expandOrbital encephalocele (HP:0007115) help
........expandFrontal encephalocele (HP:0007330) help
................... HP:0011818 Nasofrontal encephalocele
........expandParietal encephalocele (HP:0011816) help
........expandBasal encephalocele (HP:0011817) help
................... HP:0004478 Ethmoidal encephalocele

 Sister Nodes: 
..expandAbnormal CNS myelination (HP:0011400) help
..expandAbnormal glial cell morphology (HP:0100705) help
..expandAbnormal meningeal morphology (HP:0010651) help
..expandAbnormal neural tube morphology (HP:0410043) help
..expandAbnormal subarachnoid space morphology (HP:0012703) help
..expandAbnormality of brain morphology (HP:0012443) help
..expandAbnormality of neuronal migration (HP:0002269) help
..expandAbnormality of the cerebrospinal fluid (HP:0002921) help
..expandAbnormality of the spinal cord (HP:0002143) help
..expandAlzheimer disease (HP:0002511) help
..expandAplasia/Hypoplasia involving the central nervous system (HP:0002977) help
..expandAtrophy/Degeneration affecting the central nervous system (HP:0007367) help
..expandCentral nervous system cyst (HP:0030724) help
..expandMorphological abnormality of the pyramidal tract (HP:0002062) help
..expandNeoplasm of the central nervous system (HP:0100006) help
..expandUnusual CNS infection (HP:0011450) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002084HP:0002084Encephalocele0AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0002084Encephalocele0ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0002084Encephalocele0ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0002084Encephalocele0ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0002084Encephalocele0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0002084Encephalocele0B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0002084Encephalocele0B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0002084Encephalocele0CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0002084Encephalocele0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0002084Encephalocele0CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0002084Encephalocele0CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0002084Encephalocele0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0002084Encephalocele0CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0002084Encephalocele0CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0002084Encephalocele0CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0002084Encephalocele0CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0002084Encephalocele0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0002084Encephalocele0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0002084Encephalocele0FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0002084Encephalocele0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0002084Encephalocele0GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0002084Encephalocele0GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0002084Encephalocele0IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0002084Encephalocele0IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0002084Encephalocele0IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0002084Encephalocele0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0002084Encephalocele0KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0002084Encephalocele0LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0002084Encephalocele0LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0002084Encephalocele0MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0002084Encephalocele0MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0002084Encephalocele0NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0002084Encephalocele0PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0002084Encephalocele0RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0002084Encephalocele0RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0002084Encephalocele0RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0002084Encephalocele0RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0002084Encephalocele0RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0002084Encephalocele0RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0002084Encephalocele0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0002084Encephalocele0SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0002084Encephalocele0TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0002084Encephalocele0TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0002084Encephalocele0TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0002084Encephalocele0TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0002084Encephalocele0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0002084Encephalocele0TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0002084Encephalocele0TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0002084Encephalocele0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0002084Encephalocele0TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0002084Encephalocele0TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0002084Encephalocele0TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0002084Encephalocele0WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0002084Encephalocele0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0002084Encephalocele0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0011816Parietal encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0011817Basal encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0007115Orbital encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0007035Anterior encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0007330Frontal encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0002085Occipital encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0006992Anterior basal encephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0004423Cranium bifidum occultum1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0006888Meningoencephalocele1AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0006992Anterior basal encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0004423Cranium bifidum occultum1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0002085Occipital encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0006888Meningoencephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0011817Basal encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0011816Parietal encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0007035Anterior encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0007330Frontal encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0007115Orbital encephalocele1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0011816Parietal encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0011817Basal encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0007330Frontal encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0007115Orbital encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0007035Anterior encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0004423Cranium bifidum occultum1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0002085Occipital encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0006992Anterior basal encephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0006888Meningoencephalocele1ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0011817Basal encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0011816Parietal encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0007035Anterior encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0007330Frontal encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0007115Orbital encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0006992Anterior basal encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0004423Cranium bifidum occultum1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0002085Occipital encephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0006888Meningoencephalocele1ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0011817Basal encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0011816Parietal encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0007035Anterior encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0007330Frontal encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0007115Orbital encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0006992Anterior basal encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0004423Cranium bifidum occultum1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0002085Occipital encephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0006888Meningoencephalocele1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0006888Meningoencephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0011816Parietal encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0011817Basal encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0007035Anterior encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0007330Frontal encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0007115Orbital encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0006992Anterior basal encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0004423Cranium bifidum occultum1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0002085Occipital encephalocele1B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0006888Meningoencephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0011817Basal encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0011816Parietal encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0007035Anterior encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0007330Frontal encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0007115Orbital encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0006992Anterior basal encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0004423Cranium bifidum occultum1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0002085Occipital encephalocele1B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0006888Meningoencephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0011816Parietal encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0011817Basal encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0007330Frontal encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0007115Orbital encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0007035Anterior encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0004423Cranium bifidum occultum1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0002085Occipital encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0006992Anterior basal encephalocele1CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0011817Basal encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0011816Parietal encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0007035Anterior encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0007330Frontal encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0007115Orbital encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0006992Anterior basal encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0004423Cranium bifidum occultum1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0002085Occipital encephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0006888Meningoencephalocele1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0011817Basal encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0011816Parietal encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0006888Meningoencephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0007035Anterior encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0007330Frontal encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0007115Orbital encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0011817Basal encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0011816Parietal encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0006992Anterior basal encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0004423Cranium bifidum occultum1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0002085Occipital encephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0007035Anterior encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0007330Frontal encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0007115Orbital encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0006888Meningoencephalocele1CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0006992Anterior basal encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0004423Cranium bifidum occultum1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0002085Occipital encephalocele1CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0011816Parietal encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0011817Basal encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0007330Frontal encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0007115Orbital encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0007035Anterior encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0004423Cranium bifidum occultum1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0002085Occipital encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0006992Anterior basal encephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0006888Meningoencephalocele1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0006888Meningoencephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0011817Basal encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0011816Parietal encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0007035Anterior encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0007330Frontal encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0007115Orbital encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0006992Anterior basal encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0004423Cranium bifidum occultum1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0002085Occipital encephalocele1CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0011817Basal encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0011816Parietal encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0007035Anterior encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0007330Frontal encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0007115Orbital encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0004423Cranium bifidum occultum1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0002085Occipital encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0006992Anterior basal encephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0006888Meningoencephalocele1CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0011816Parietal encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0011817Basal encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0007115Orbital encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0007035Anterior encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0007330Frontal encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0002085Occipital encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0006992Anterior basal encephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0004423Cranium bifidum occultum1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0006888Meningoencephalocele1CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0006888Meningoencephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0011816Parietal encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0011817Basal encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0007115Orbital encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0007035Anterior encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0007330Frontal encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0002085Occipital encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0006992Anterior basal encephalocele1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0004423Cranium bifidum occultum1CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0006992Anterior basal encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0004423Cranium bifidum occultum1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0002085Occipital encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0006888Meningoencephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0011816Parietal encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0011817Basal encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0007115Orbital encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0007035Anterior encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0007330Frontal encephalocele1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0011817Basal encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0011816Parietal encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0007035Anterior encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0007330Frontal encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0007115Orbital encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0006992Anterior basal encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0004423Cranium bifidum occultum1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0002085Occipital encephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0006888Meningoencephalocele1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0011817Basal encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0011816Parietal encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0007035Anterior encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0007330Frontal encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0007115Orbital encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0006992Anterior basal encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0004423Cranium bifidum occultum1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0002085Occipital encephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0006888Meningoencephalocele1FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0011817Basal encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0011816Parietal encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0007035Anterior encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0007330Frontal encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0007115Orbital encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0006992Anterior basal encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0004423Cranium bifidum occultum1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0002085Occipital encephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0006888Meningoencephalocele1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0011817Basal encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0011816Parietal encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0007035Anterior encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0007330Frontal encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0007115Orbital encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0006992Anterior basal encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0004423Cranium bifidum occultum1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0002085Occipital encephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0006888Meningoencephalocele1GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0011817Basal encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0011816Parietal encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0007330Frontal encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0007115Orbital encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0007035Anterior encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0004423Cranium bifidum occultum1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0002085Occipital encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0006992Anterior basal encephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0006888Meningoencephalocele1GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0011816Parietal encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0011817Basal encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0007115Orbital encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0007035Anterior encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0007330Frontal encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0006992Anterior basal encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0004423Cranium bifidum occultum1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0002085Occipital encephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0006888Meningoencephalocele1IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0011817Basal encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0011816Parietal encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0007035Anterior encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0007330Frontal encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0007115Orbital encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0006992Anterior basal encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0004423Cranium bifidum occultum1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0002085Occipital encephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0006888Meningoencephalocele1IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0011816Parietal encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0011817Basal encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0007330Frontal encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0007115Orbital encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0007035Anterior encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0004423Cranium bifidum occultum1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0002085Occipital encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0006992Anterior basal encephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0006888Meningoencephalocele1IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0011817Basal encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0011816Parietal encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0007035Anterior encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0007330Frontal encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0007115Orbital encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0006992Anterior basal encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0004423Cranium bifidum occultum1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0002085Occipital encephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0006888Meningoencephalocele1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0011816Parietal encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0011817Basal encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0007035Anterior encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0007330Frontal encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0007115Orbital encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0006992Anterior basal encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0004423Cranium bifidum occultum1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0002085Occipital encephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0006888Meningoencephalocele1KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0011817Basal encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0011816Parietal encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0007035Anterior encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0007330Frontal encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0007115Orbital encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0006992Anterior basal encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0004423Cranium bifidum occultum1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0002085Occipital encephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0006888Meningoencephalocele1LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0011816Parietal encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0011817Basal encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0007330Frontal encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0007115Orbital encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0007035Anterior encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0002085Occipital encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0006992Anterior basal encephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0004423Cranium bifidum occultum1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0006888Meningoencephalocele1LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0006888Meningoencephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0011817Basal encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0011816Parietal encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0007035Anterior encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0007330Frontal encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0007115Orbital encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0006992Anterior basal encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0004423Cranium bifidum occultum1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0002085Occipital encephalocele1MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0011816Parietal encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0011817Basal encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0007330Frontal encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0007115Orbital encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0007035Anterior encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0002085Occipital encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0006992Anterior basal encephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0004423Cranium bifidum occultum1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0006888Meningoencephalocele1MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0011817Basal encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0011816Parietal encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0007035Anterior encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0007330Frontal encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0007115Orbital encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0006992Anterior basal encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0004423Cranium bifidum occultum1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0002085Occipital encephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0006888Meningoencephalocele1NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0011817Basal encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0011816Parietal encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0007035Anterior encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0007330Frontal encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0007115Orbital encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0006992Anterior basal encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0004423Cranium bifidum occultum1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0002085Occipital encephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0006888Meningoencephalocele1PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0011816Parietal encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0011817Basal encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0007115Orbital encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0007035Anterior encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0007330Frontal encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0002085Occipital encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0006992Anterior basal encephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0004423Cranium bifidum occultum1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0006888Meningoencephalocele1RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0011817Basal encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0011816Parietal encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0007035Anterior encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0007330Frontal encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0007115Orbital encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0006992Anterior basal encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0004423Cranium bifidum occultum1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0002085Occipital encephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0006888Meningoencephalocele1RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0011817Basal encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0011816Parietal encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0007035Anterior encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0007330Frontal encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0007115Orbital encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0006992Anterior basal encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0004423Cranium bifidum occultum1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0002085Occipital encephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0006888Meningoencephalocele1RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0011816Parietal encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0011817Basal encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0006888Meningoencephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0007115Orbital encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0007035Anterior encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0007330Frontal encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0011817Basal encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0011816Parietal encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0002085Occipital encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0006992Anterior basal encephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0004423Cranium bifidum occultum1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0007035Anterior encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0007330Frontal encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0007115Orbital encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0006888Meningoencephalocele1RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0006992Anterior basal encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0004423Cranium bifidum occultum1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0002085Occipital encephalocele1RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0006888Meningoencephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0011816Parietal encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0011817Basal encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0007115Orbital encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0007035Anterior encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0007330Frontal encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0002085Occipital encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0006992Anterior basal encephalocele1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0004423Cranium bifidum occultum1RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0011816Parietal encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0011817Basal encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0007115Orbital encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0007035Anterior encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0007330Frontal encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0006992Anterior basal encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0004423Cranium bifidum occultum1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0002085Occipital encephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0006888Meningoencephalocele1RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0011817Basal encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0011816Parietal encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0007035Anterior encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0007330Frontal encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0007115Orbital encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0006992Anterior basal encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0004423Cranium bifidum occultum1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0002085Occipital encephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0006888Meningoencephalocele1SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0006888Meningoencephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0011817Basal encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0011816Parietal encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0007035Anterior encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0007330Frontal encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0007115Orbital encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0006992Anterior basal encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0004423Cranium bifidum occultum1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0002085Occipital encephalocele1TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0011816Parietal encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0011817Basal encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0007035Anterior encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0007330Frontal encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0007115Orbital encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0006992Anterior basal encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0004423Cranium bifidum occultum1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0002085Occipital encephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0006888Meningoencephalocele1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0006888Meningoencephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0011817Basal encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0011816Parietal encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0007035Anterior encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0007330Frontal encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0007115Orbital encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0004423Cranium bifidum occultum1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0002085Occipital encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0006992Anterior basal encephalocele1TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0006888Meningoencephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0011816Parietal encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0011817Basal encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0007115Orbital encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0007035Anterior encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0007330Frontal encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0002085Occipital encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0006992Anterior basal encephalocele1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0004423Cranium bifidum occultum1TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0011816Parietal encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0011817Basal encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0007115Orbital encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0007035Anterior encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0007330Frontal encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0002085Occipital encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0006992Anterior basal encephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0004423Cranium bifidum occultum1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0006888Meningoencephalocele1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0011816Parietal encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0011817Basal encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0007115Orbital encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0007035Anterior encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0007330Frontal encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0002085Occipital encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0006992Anterior basal encephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0004423Cranium bifidum occultum1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0006888Meningoencephalocele1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0006888Meningoencephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0011817Basal encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0011816Parietal encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0007035Anterior encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0007330Frontal encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0007115Orbital encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0006992Anterior basal encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0004423Cranium bifidum occultum1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0002085Occipital encephalocele1TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0011817Basal encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0011816Parietal encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0007035Anterior encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0007330Frontal encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0007115Orbital encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0006992Anterior basal encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0004423Cranium bifidum occultum1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0002085Occipital encephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0011816Parietal encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0011817Basal encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0007330Frontal encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0007115Orbital encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0007035Anterior encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0004423Cranium bifidum occultum1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0002085Occipital encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0006992Anterior basal encephalocele1TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0011817Basal encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0011816Parietal encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0007035Anterior encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0007330Frontal encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0007115Orbital encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0004423Cranium bifidum occultum1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0002085Occipital encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0006992Anterior basal encephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0006888Meningoencephalocele1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0011817Basal encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0011816Parietal encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0007330Frontal encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0007115Orbital encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0007035Anterior encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0004423Cranium bifidum occultum1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0002085Occipital encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0006992Anterior basal encephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0006888Meningoencephalocele1TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0006888Meningoencephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0011816Parietal encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0011817Basal encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0007115Orbital encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0007035Anterior encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0007330Frontal encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0006992Anterior basal encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0004423Cranium bifidum occultum1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0002085Occipital encephalocele1WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0011817Basal encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0011816Parietal encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0007035Anterior encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0007330Frontal encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0007115Orbital encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0006992Anterior basal encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0004423Cranium bifidum occultum1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0002085Occipital encephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0006888Meningoencephalocele1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0004423Cranium bifidum occultum1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0002085Occipital encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0006992Anterior basal encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0006888Meningoencephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0011817Basal encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0011816Parietal encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0007035Anterior encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0007330Frontal encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0007115Orbital encephalocele1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0011818Nasofrontal encephalocele2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0004478Ethmoidal encephalocele2AIPL1 CL E G H2374665ORPHA1479359604392
HP:0002084HP:0004478Ethmoidal encephalocele2ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0011818Nasofrontal encephalocele2ALX4 CL E G H60529228390ORPHA1281450605420
HP:0002084HP:0011818Nasofrontal encephalocele2ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0004478Ethmoidal encephalocele2ALX4 CL E G H60529613451Frontonasal dysplasia 2613451C3150703OMIM1281450605420
HP:0002084HP:0011818Nasofrontal encephalocele2ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0004478Ethmoidal encephalocele2ALX4 CL E G H60529609597Parietal foramina 2609597C1865044OMIM1281450605420
HP:0002084HP:0011818Nasofrontal encephalocele2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0004478Ethmoidal encephalocele2ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM139429216610911
HP:0002084HP:0004478Ethmoidal encephalocele2B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0011818Nasofrontal encephalocele2B9D1 CL E G H27077564ORPHA131024123614144
HP:0002084HP:0004478Ethmoidal encephalocele2B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0011818Nasofrontal encephalocele2B9D2 CL E G H80776564ORPHA17328636611951
HP:0002084HP:0004478Ethmoidal encephalocele2CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0011818Nasofrontal encephalocele2CC2D2A CL E G H57545564ORPHA1152529253612013
HP:0002084HP:0011818Nasofrontal encephalocele2CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0004478Ethmoidal encephalocele2CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM143326690613446
HP:0002084HP:0011818Nasofrontal encephalocele2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0004478Ethmoidal encephalocele2CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0011818Nasofrontal encephalocele2CEP290 CL E G H80184564ORPHA1294429021610142
HP:0002084HP:0004478Ethmoidal encephalocele2CEP290 CL E G H8018465ORPHA1294429021610142
HP:0002084HP:0011818Nasofrontal encephalocele2CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0004478Ethmoidal encephalocele2CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM1294429021610142
HP:0002084HP:0004478Ethmoidal encephalocele2CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0011818Nasofrontal encephalocele2CEP55 CL E G H55165564ORPHA1891161610000
HP:0002084HP:0011818Nasofrontal encephalocele2CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0004478Ethmoidal encephalocele2CRB1 CL E G H2341865ORPHA116332343604210
HP:0002084HP:0011818Nasofrontal encephalocele2CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0004478Ethmoidal encephalocele2CRX CL E G H140665ORPHA14992383602225
HP:0002084HP:0004478Ethmoidal encephalocele2CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0011818Nasofrontal encephalocele2CSPP1 CL E G H79848564ORPHA1107426193611654
HP:0002084HP:0004478Ethmoidal encephalocele2FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0011818Nasofrontal encephalocele2FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA19363688136350
HP:0002084HP:0011818Nasofrontal encephalocele2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0004478Ethmoidal encephalocele2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM19143622607440
HP:0002084HP:0011818Nasofrontal encephalocele2FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0004478Ethmoidal encephalocele2FLNB CL E G H2317108720Atelosteogenesis type 1108720C0265283OMIM116243755603381
HP:0002084HP:0011818Nasofrontal encephalocele2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0004478Ethmoidal encephalocele2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM1128719185607830
HP:0002084HP:0011818Nasofrontal encephalocele2GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0004478Ethmoidal encephalocele2GDF6 CL E G H39225565ORPHA14064221601147
HP:0002084HP:0011818Nasofrontal encephalocele2GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0004478Ethmoidal encephalocele2GUCY2D CL E G H300065ORPHA110484689600179
HP:0002084HP:0011818Nasofrontal encephalocele2IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0004478Ethmoidal encephalocele2IFT140 CL E G H974265ORPHA1168629077614620
HP:0002084HP:0011818Nasofrontal encephalocele2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0004478Ethmoidal encephalocele2IMPDH1 CL E G H361465ORPHA15426052146690
HP:0002084HP:0011818Nasofrontal encephalocele2IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0004478Ethmoidal encephalocele2IQCB1 CL E G H965765ORPHA149628949609237
HP:0002084HP:0011818Nasofrontal encephalocele2ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0004478Ethmoidal encephalocele2ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM173337276614631
HP:0002084HP:0011818Nasofrontal encephalocele2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0004478Ethmoidal encephalocele2KCNJ13 CL E G H376965ORPHA12356259603208
HP:0002084HP:0011818Nasofrontal encephalocele2LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0004478Ethmoidal encephalocele2LCA5 CL E G H16769165ORPHA168631923611408
HP:0002084HP:0011818Nasofrontal encephalocele2LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0004478Ethmoidal encephalocele2LRAT CL E G H922765ORPHA12426685604863
HP:0002084HP:0004478Ethmoidal encephalocele2MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0011818Nasofrontal encephalocele2MKS1 CL E G H54903564ORPHA18397121609883
HP:0002084HP:0011818Nasofrontal encephalocele2MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0004478Ethmoidal encephalocele2MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM12067392123101
HP:0002084HP:0011818Nasofrontal encephalocele2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0004478Ethmoidal encephalocele2NMNAT1 CL E G H6480265ORPHA122617877608700
HP:0002084HP:0011818Nasofrontal encephalocele2PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0004478Ethmoidal encephalocele2PCYT1A CL E G H513065ORPHA13588754123695
HP:0002084HP:0011818Nasofrontal encephalocele2RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0004478Ethmoidal encephalocele2RD3 CL E G H34303565ORPHA125619689180040
HP:0002084HP:0011818Nasofrontal encephalocele2RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0004478Ethmoidal encephalocele2RDH12 CL E G H14522665ORPHA149519977608830
HP:0002084HP:0011818Nasofrontal encephalocele2RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0004478Ethmoidal encephalocele2RPE65 CL E G H612165ORPHA178310294180069
HP:0002084HP:0011818Nasofrontal encephalocele2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0004478Ethmoidal encephalocele2RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0011818Nasofrontal encephalocele2RPGRIP1 CL E G H57096564ORPHA1101013436605446
HP:0002084HP:0004478Ethmoidal encephalocele2RPGRIP1 CL E G H5709665ORPHA1101013436605446
HP:0002084HP:0004478Ethmoidal encephalocele2RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0011818Nasofrontal encephalocele2RPGRIP1L CL E G H23322564ORPHA1149429168610937
HP:0002084HP:0011818Nasofrontal encephalocele2RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0004478Ethmoidal encephalocele2RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM1149429168610937
HP:0002084HP:0011818Nasofrontal encephalocele2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0004478Ethmoidal encephalocele2SPATA7 CL E G H5581265ORPHA143220423609868
HP:0002084HP:0004478Ethmoidal encephalocele2TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0011818Nasofrontal encephalocele2TCTN2 CL E G H79867564ORPHA162225774613846
HP:0002084HP:0011818Nasofrontal encephalocele2TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0004478Ethmoidal encephalocele2TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM162225774613846
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM107 CL E G H84314564ORPHA129928128616183
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM216 CL E G H51259564ORPHA123625018613277
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM123625018613277
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM123625018613277
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM231 CL E G H79583564ORPHA146337234614949
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM146614432614423
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM67 CL E G H91147564ORPHA192828396609884
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0002084HP:0011818Nasofrontal encephalocele2TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0004478Ethmoidal encephalocele2TULP1 CL E G H728765ORPHA158712423602280
HP:0002084HP:0004478Ethmoidal encephalocele2WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0011818Nasofrontal encephalocele2WDPCP CL E G H51057564ORPHA158728027613580
HP:0002084HP:0011818Nasofrontal encephalocele2ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0004478Ethmoidal encephalocele2ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM165929316615951
HP:0002084HP:0004478Ethmoidal encephalocele2ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
HP:0002084HP:0011818Nasofrontal encephalocele2ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA165929316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002084HP:0002084Encephalocele0AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0002084Encephalocele0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0002084Encephalocele0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0002084Encephalocele0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0002084Encephalocele0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0002084Encephalocele0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0002084Encephalocele0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0002084Encephalocele0CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0002084Encephalocele0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0002084Encephalocele0CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0002084Encephalocele0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0002084Encephalocele0CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0002084Encephalocele0CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0002084Encephalocele0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0002084Encephalocele0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0002084Encephalocele0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0002084Encephalocele0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0002084Encephalocele0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0002084Encephalocele0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0002084Encephalocele0FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0002084Encephalocele0FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0002084Encephalocele0FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0002084Encephalocele0FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0002084Encephalocele0GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0002084Encephalocele0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0002084Encephalocele0INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0002084Encephalocele0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0002084Encephalocele0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0002084Encephalocele0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0002084Encephalocele0MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0002084Encephalocele0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0002084Encephalocele0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0002084Encephalocele0NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0002084Encephalocele0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0002084Encephalocele0POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0002084Encephalocele0POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0002084Encephalocele0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0002084Encephalocele0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0002084Encephalocele0RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0002084Encephalocele0TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0002084Encephalocele0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0002084Encephalocele0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0002084Encephalocele0TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0002084Encephalocele0TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0002084Encephalocele0TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0002084Encephalocele0TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0002084Encephalocele0TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0002084Encephalocele0TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0002084Encephalocele0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0002084Encephalocele0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0002084Encephalocele0ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0004423Cranium bifidum occultum1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0002085Occipital encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0006992Anterior basal encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0006888Meningoencephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0011817Basal encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0011816Parietal encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0007035Anterior encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0007330Frontal encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0007115Orbital encephalocele1AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0011817Basal encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0006888Meningoencephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0007035Anterior encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0011816Parietal encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0006992Anterior basal encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0004423Cranium bifidum occultum1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0007115Orbital encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0007330Frontal encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0002085Occipital encephalocele1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0006888Meningoencephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0011817Basal encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0011816Parietal encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0007035Anterior encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0007330Frontal encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0007115Orbital encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0006992Anterior basal encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0004423Cranium bifidum occultum1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0002085Occipital encephalocele1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0006888Meningoencephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0011817Basal encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0011816Parietal encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0007035Anterior encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0007330Frontal encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0007115Orbital encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0006992Anterior basal encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0004423Cranium bifidum occultum1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0002085Occipital encephalocele1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0006888Meningoencephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0011817Basal encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0011816Parietal encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0007330Frontal encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0007115Orbital encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0007035Anterior encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0004423Cranium bifidum occultum1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0002085Occipital encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0006992Anterior basal encephalocele1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0006888Meningoencephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0011816Parietal encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0011817Basal encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0007115Orbital encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0007035Anterior encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0007330Frontal encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0006992Anterior basal encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0004423Cranium bifidum occultum1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0002085Occipital encephalocele1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0006888Meningoencephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0011817Basal encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0011816Parietal encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0007035Anterior encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0007330Frontal encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0007115Orbital encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0006992Anterior basal encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0004423Cranium bifidum occultum1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0002085Occipital encephalocele1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0006992Anterior basal encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0004423Cranium bifidum occultum1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0002085Occipital encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0006888Meningoencephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0011817Basal encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0011816Parietal encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0007035Anterior encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0007330Frontal encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0007115Orbital encephalocele1CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0006888Meningoencephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0011816Parietal encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0011817Basal encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0007330Frontal encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0007115Orbital encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0007035Anterior encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0004423Cranium bifidum occultum1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0002085Occipital encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0006992Anterior basal encephalocele1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0002085Occipital encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0006992Anterior basal encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0004423Cranium bifidum occultum1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0006888Meningoencephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0011816Parietal encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0011817Basal encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0007115Orbital encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0007035Anterior encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0007330Frontal encephalocele1CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0006888Meningoencephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0011816Parietal encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0011817Basal encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0007035Anterior encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0007330Frontal encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0007115Orbital encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0006992Anterior basal encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0004423Cranium bifidum occultum1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0002085Occipital encephalocele1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0004423Cranium bifidum occultum1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0002085Occipital encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0006992Anterior basal encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0006888Meningoencephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0011816Parietal encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0011817Basal encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0007330Frontal encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0007115Orbital encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0007035Anterior encephalocele1CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0006992Anterior basal encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0004423Cranium bifidum occultum1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0002085Occipital encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0006888Meningoencephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0011817Basal encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0011816Parietal encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0007035Anterior encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0007330Frontal encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0007115Orbital encephalocele1CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0006888Meningoencephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0011817Basal encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0011816Parietal encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0007035Anterior encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0007330Frontal encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0007115Orbital encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0006992Anterior basal encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0004423Cranium bifidum occultum1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0002085Occipital encephalocele1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0006888Meningoencephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0011816Parietal encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0011817Basal encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0007330Frontal encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0007115Orbital encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0007035Anterior encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0002085Occipital encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0006992Anterior basal encephalocele1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0004423Cranium bifidum occultum1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0006888Meningoencephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0011817Basal encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0011816Parietal encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0007035Anterior encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0007330Frontal encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0007115Orbital encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0006992Anterior basal encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0004423Cranium bifidum occultum1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0002085Occipital encephalocele1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0006888Meningoencephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0011817Basal encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0011816Parietal encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0007330Frontal encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0007115Orbital encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0007035Anterior encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0002085Occipital encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0006992Anterior basal encephalocele1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0004423Cranium bifidum occultum1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0006992Anterior basal encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0004423Cranium bifidum occultum1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0002085Occipital encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0006888Meningoencephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0011817Basal encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0011816Parietal encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0007035Anterior encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0007330Frontal encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0007115Orbital encephalocele1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0006992Anterior basal encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0004423Cranium bifidum occultum1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0002085Occipital encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0006888Meningoencephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0011817Basal encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0011816Parietal encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0007035Anterior encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0007330Frontal encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0007115Orbital encephalocele1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0006992Anterior basal encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0004423Cranium bifidum occultum1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0002085Occipital encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0006888Meningoencephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0011817Basal encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0011816Parietal encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0007035Anterior encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0007330Frontal encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0007115Orbital encephalocele1FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0002085Occipital encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0006992Anterior basal encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0004423Cranium bifidum occultum1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0006888Meningoencephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0011816Parietal encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0011817Basal encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0007115Orbital encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0007035Anterior encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0007330Frontal encephalocele1FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0002085Occipital encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0006992Anterior basal encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0004423Cranium bifidum occultum1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0006888Meningoencephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0011816Parietal encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0011817Basal encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0007115Orbital encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0007035Anterior encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0007330Frontal encephalocele1FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0006992Anterior basal encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0004423Cranium bifidum occultum1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0002085Occipital encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0006888Meningoencephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0011817Basal encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0011816Parietal encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0007035Anterior encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0007330Frontal encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0007115Orbital encephalocele1FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0004423Cranium bifidum occultum1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0002085Occipital encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0006992Anterior basal encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0006888Meningoencephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0011817Basal encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0011816Parietal encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0007330Frontal encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0007115Orbital encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0007035Anterior encephalocele1GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0006888Meningoencephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0011817Basal encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0011816Parietal encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0007035Anterior encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0007330Frontal encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0007115Orbital encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0006992Anterior basal encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0004423Cranium bifidum occultum1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0002085Occipital encephalocele1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0004423Cranium bifidum occultum1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0002085Occipital encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0006992Anterior basal encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0006888Meningoencephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0011817Basal encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0011816Parietal encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0007330Frontal encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0007115Orbital encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0007035Anterior encephalocele1INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0006888Meningoencephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0011816Parietal encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0011817Basal encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0007115Orbital encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0007035Anterior encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0007330Frontal encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0002085Occipital encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0006992Anterior basal encephalocele1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0004423Cranium bifidum occultum1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0006888Meningoencephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0011817Basal encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0011816Parietal encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0007035Anterior encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0007330Frontal encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0007115Orbital encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0006992Anterior basal encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0004423Cranium bifidum occultum1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0002085Occipital encephalocele1KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0006888Meningoencephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0011817Basal encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0011816Parietal encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0007035Anterior encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0007330Frontal encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0007115Orbital encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0004423Cranium bifidum occultum1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0002085Occipital encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0006992Anterior basal encephalocele1KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0002085Occipital encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0006992Anterior basal encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0004423Cranium bifidum occultum1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0006888Meningoencephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0011816Parietal encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0011817Basal encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0007115Orbital encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0007035Anterior encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0007330Frontal encephalocele1MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0006888Meningoencephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0011816Parietal encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0011817Basal encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0007115Orbital encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0007035Anterior encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0007330Frontal encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0002085Occipital encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0006992Anterior basal encephalocele1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0004423Cranium bifidum occultum1MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0002085Occipital encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0006992Anterior basal encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0004423Cranium bifidum occultum1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0006888Meningoencephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0011816Parietal encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0011817Basal encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0007115Orbital encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0007035Anterior encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0007330Frontal encephalocele1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0006992Anterior basal encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0004423Cranium bifidum occultum1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0002085Occipital encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0006888Meningoencephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0011817Basal encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0011816Parietal encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0007035Anterior encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0007330Frontal encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0007115Orbital encephalocele1NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0006888Meningoencephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0011817Basal encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0011816Parietal encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0007035Anterior encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0007330Frontal encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0007115Orbital encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0006992Anterior basal encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0004423Cranium bifidum occultum1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0002085Occipital encephalocele1PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0006888Meningoencephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0011817Basal encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0011816Parietal encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0007035Anterior encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0007330Frontal encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0007115Orbital encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0006992Anterior basal encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0004423Cranium bifidum occultum1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0002085Occipital encephalocele1POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0006888Meningoencephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0011816Parietal encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0011817Basal encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0007330Frontal encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0007115Orbital encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0007035Anterior encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0004423Cranium bifidum occultum1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0002085Occipital encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0006992Anterior basal encephalocele1POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0011817Basal encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0011816Parietal encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0007035Anterior encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0007330Frontal encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0007115Orbital encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0006992Anterior basal encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0004423Cranium bifidum occultum1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0002085Occipital encephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0006888Meningoencephalocele1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0006992Anterior basal encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0004423Cranium bifidum occultum1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0002085Occipital encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0006888Meningoencephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0011817Basal encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0011816Parietal encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0007035Anterior encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0007330Frontal encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0007115Orbital encephalocele1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0004423Cranium bifidum occultum1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0002085Occipital encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0006992Anterior basal encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0006888Meningoencephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0011816Parietal encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0011817Basal encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0007330Frontal encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0007115Orbital encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0007035Anterior encephalocele1RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0006888Meningoencephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0011817Basal encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0011816Parietal encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0007035Anterior encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0007330Frontal encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0007115Orbital encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0006992Anterior basal encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0004423Cranium bifidum occultum1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0002085Occipital encephalocele1TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0006888Meningoencephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0011817Basal encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0011816Parietal encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0007330Frontal encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0007115Orbital encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0007035Anterior encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0004423Cranium bifidum occultum1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0002085Occipital encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0006992Anterior basal encephalocele1TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0006888Meningoencephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0011816Parietal encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0011817Basal encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0007115Orbital encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0007035Anterior encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0007330Frontal encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0006992Anterior basal encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0004423Cranium bifidum occultum1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0002085Occipital encephalocele1TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0006992Anterior basal encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0004423Cranium bifidum occultum1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0002085Occipital encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0006888Meningoencephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0011816Parietal encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0011817Basal encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0007035Anterior encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0007330Frontal encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0007115Orbital encephalocele1TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0011816Parietal encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0011817Basal encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0007330Frontal encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0007115Orbital encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0007035Anterior encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0002085Occipital encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0006992Anterior basal encephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0004423Cranium bifidum occultum1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0006888Meningoencephalocele1TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0006992Anterior basal encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0004423Cranium bifidum occultum1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0002085Occipital encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0006888Meningoencephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0011817Basal encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0011816Parietal encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0007035Anterior encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0007330Frontal encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0007115Orbital encephalocele1TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0002085Occipital encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0006992Anterior basal encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0004423Cranium bifidum occultum1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0006888Meningoencephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0011816Parietal encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0011817Basal encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0007330Frontal encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0007115Orbital encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0007035Anterior encephalocele1TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0006992Anterior basal encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0006992Anterior basal encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0004423Cranium bifidum occultum1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0004423Cranium bifidum occultum1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0002085Occipital encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0002085Occipital encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0011816Parietal encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0011817Basal encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0011817Basal encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0011816Parietal encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0007035Anterior encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0007035Anterior encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0007330Frontal encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0007330Frontal encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0007115Orbital encephalocele1TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0007115Orbital encephalocele1TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0011817Basal encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0011816Parietal encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0007035Anterior encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0007330Frontal encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0007115Orbital encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0006992Anterior basal encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0004423Cranium bifidum occultum1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0002085Occipital encephalocele1TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0006888Meningoencephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0011816Parietal encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0011817Basal encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0007330Frontal encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0007115Orbital encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0007035Anterior encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0004423Cranium bifidum occultum1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0002085Occipital encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0006992Anterior basal encephalocele1TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0006992Anterior basal encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0004423Cranium bifidum occultum1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0002085Occipital encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0006888Meningoencephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0011817Basal encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0011816Parietal encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0007035Anterior encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0007330Frontal encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0007115Orbital encephalocele1ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0004478Ethmoidal encephalocele2AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0011818Nasofrontal encephalocele2AHI1 CL E G H54806220493ORPHA0119421575608894
HP:0002084HP:0011818Nasofrontal encephalocele2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0004478Ethmoidal encephalocele2AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA0119421575608894
HP:0002084HP:0004478Ethmoidal encephalocele2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0011818Nasofrontal encephalocele2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA039429216610911
HP:0002084HP:0004478Ethmoidal encephalocele2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0011818Nasofrontal encephalocele2ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA034025419608922
HP:0002084HP:0004478Ethmoidal encephalocele2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0011818Nasofrontal encephalocele2ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA0137694604695
HP:0002084HP:0004478Ethmoidal encephalocele2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0011818Nasofrontal encephalocele2ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA063120730617612
HP:0002084HP:0004478Ethmoidal encephalocele2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0011818Nasofrontal encephalocele2B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA031024123614144
HP:0002084HP:0004478Ethmoidal encephalocele2CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0011818Nasofrontal encephalocele2CC2D2A CL E G H575452318ORPHA0152529253612013
HP:0002084HP:0004478Ethmoidal encephalocele2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0011818Nasofrontal encephalocele2CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA050624866616690
HP:0002084HP:0004478Ethmoidal encephalocele2CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0011818Nasofrontal encephalocele2CEP120 CL E G H153241220493ORPHA043326690613446
HP:0002084HP:0004478Ethmoidal encephalocele2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0011818Nasofrontal encephalocele2CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA043326690613446
HP:0002084HP:0004478Ethmoidal encephalocele2CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0011818Nasofrontal encephalocele2CEP290 CL E G H801842318ORPHA0294429021610142
HP:0002084HP:0004478Ethmoidal encephalocele2CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0011818Nasofrontal encephalocele2CEP41 CL E G H95681220493ORPHA043512370610523
HP:0002084HP:0004478Ethmoidal encephalocele2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0011818Nasofrontal encephalocele2CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA043512370610523
HP:0002084HP:0004478Ethmoidal encephalocele2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0011818Nasofrontal encephalocele2CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA0198925801614571
HP:0002084HP:0004478Ethmoidal encephalocele2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0011818Nasofrontal encephalocele2CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA0107426193611654
HP:0002084HP:0004478Ethmoidal encephalocele2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0011818Nasofrontal encephalocele2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA02122910605185
HP:0002084HP:0004478Ethmoidal encephalocele2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0011818Nasofrontal encephalocele2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0108019189614194
HP:0002084HP:0004478Ethmoidal encephalocele2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0011818Nasofrontal encephalocele2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA021828526614789
HP:0002084HP:0004478Ethmoidal encephalocele2FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0011818Nasofrontal encephalocele2FGFR3 CL E G H226193274ORPHA09163690134934
HP:0002084HP:0004478Ethmoidal encephalocele2FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0011818Nasofrontal encephalocele2FLNA CL E G H231690652ORPHA030333754300017
HP:0002084HP:0004478Ethmoidal encephalocele2FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0011818Nasofrontal encephalocele2FRAS1 CL E G H801442052ORPHA0128719185607830
HP:0002084HP:0004478Ethmoidal encephalocele2FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0011818Nasofrontal encephalocele2FREM2 CL E G H3416402052ORPHA0100025396608945
HP:0002084HP:0004478Ethmoidal encephalocele2GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0011818Nasofrontal encephalocele2GRIP1 CL E G H234262052ORPHA025218708604597
HP:0002084HP:0004478Ethmoidal encephalocele2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0011818Nasofrontal encephalocele2HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA031426558610693
HP:0002084HP:0004478Ethmoidal encephalocele2INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0011818Nasofrontal encephalocele2INPP5E CL E G H56623220493ORPHA078221474613037
HP:0002084HP:0004478Ethmoidal encephalocele2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0011818Nasofrontal encephalocele2INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA078221474613037
HP:0002084HP:0004478Ethmoidal encephalocele2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0011818Nasofrontal encephalocele2KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA029068616650
HP:0002084HP:0004478Ethmoidal encephalocele2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0011818Nasofrontal encephalocele2KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA0125319960610178
HP:0002084HP:0004478Ethmoidal encephalocele2MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0011818Nasofrontal encephalocele2MKS1 CL E G H54903220493ORPHA08397121609883
HP:0002084HP:0004478Ethmoidal encephalocele2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0011818Nasofrontal encephalocele2MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA08397121609883
HP:0002084HP:0004478Ethmoidal encephalocele2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0011818Nasofrontal encephalocele2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA031877881190198
HP:0002084HP:0004478Ethmoidal encephalocele2NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0011818Nasofrontal encephalocele2NPHP1 CL E G H4867220497ORPHA08157905607100
HP:0002084HP:0004478Ethmoidal encephalocele2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0011818Nasofrontal encephalocele2PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA018023352607532
HP:0002084HP:0004478Ethmoidal encephalocele2POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0011818Nasofrontal encephalocele2POLR1C CL E G H9533861ORPHA0194420194610060
HP:0002084HP:0004478Ethmoidal encephalocele2POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0011818Nasofrontal encephalocele2POLR1D CL E G H51082861ORPHA011120422613715
HP:0002084HP:0011818Nasofrontal encephalocele2POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0004478Ethmoidal encephalocele2POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM093619743607439
HP:0002084HP:0004478Ethmoidal encephalocele2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0011818Nasofrontal encephalocele2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA01865724147183
HP:0002084HP:0004478Ethmoidal encephalocele2RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0011818Nasofrontal encephalocele2RPGRIP1L CL E G H23322220497ORPHA0149429168610937
HP:0002084HP:0004478Ethmoidal encephalocele2TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0011818Nasofrontal encephalocele2TCOF1 CL E G H6949861ORPHA069511654606847
HP:0002084HP:0004478Ethmoidal encephalocele2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0011818Nasofrontal encephalocele2TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA039326113609863
HP:0002084HP:0004478Ethmoidal encephalocele2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0011818Nasofrontal encephalocele2TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA062225774613846
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM138 CL E G H515242318ORPHA016626944614459
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM138 CL E G H51524614465Joubert syndrome 16614465C3280906OMIM016626944614459
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM216 CL E G H512592318ORPHA023625018613277
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM231 CL E G H795832318ORPHA046337234614949
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM237 CL E G H650622318ORPHA046614432614423
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM237 CL E G H65062220497ORPHA046614432614423
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA046614432614423
HP:0002084HP:0004478Ethmoidal encephalocele2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0011818Nasofrontal encephalocele2TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA092828396609884
HP:0002084HP:0004478Ethmoidal encephalocele2ZNF423 CL E G H230902318ORPHA081016762604557
HP:0002084HP:0011818Nasofrontal encephalocele2ZNF423 CL E G H230902318ORPHA081016762604557


Genes (87) :AHI1 AIPL1 ALX1 ALX3 ALX4 ARHGAP31 ARL13B ARL3 ARMC9 B4GAT1 B9D1 B9D2 CC2D2A CEP104 CEP120 CEP290 CEP41 CEP55 COL18A1 CPLANE1 CRB1 CRPPA CRX CSPP1 CYP26B1 DLL4 DOCK6 EOGT ESCO2 FGFR1 FGFR3 FKRP FKTN FLNA FLNB FRAS1 FREM2 GDF6 GRIP1 GUCY2D HOXD13 HYLS1 IFT140 IMPDH1 INPP5E IQCB1 ISPD KCNJ13 KIAA0556 KIAA0586 LAMB1 LARGE1 LCA5 LRAT MKS1 MSX2 NMNAT1 NOTCH1 NPHP1 PCYT1A PIBF1 POLR1C POLR1D POMT1 POMT2 RBPJ RD3 RDH12 RPE65 RPGRIP1 RPGRIP1L SPATA7 TCOF1 TCTN1 TCTN2 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMTC3 TULP1 VSX1 WDPCP ZNF423 ZSWIM6

Diseases (58) :220493 475 65 228390 613451 609597 100300 974 564 2318 616300 611134 614643 2117 93274 253800 90652 108720 2052 219000 168500 220497 861 613150 611560 613885 614465 608091 603194 614424 607361 603671 1827 306542 391474 136760 612291 615287 614209 614175 216360 1454 612284 1571 267750 397715 615636 614416 268300 236670 887 615191 249000 611561 617562 615397 617255 614195
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.